alterlab-gnomad

alterlab-gnomad is a skill for Claude Code from AlterLab-IEU/AlterLab-Academic-Skills. It costs 80 tokens per session (3,769 once invoked), scanned A, original, MIT.

A human-genetics lookup tool for gnomAD, a database of genetic variants observed in large population sequencing studies.

In plain words
What is it for?
Use it to check population allele frequencies, filter candidate variants for rare-disease research, assess variant evidence, and review gene constraint scores.
Why use it?
It helps distinguish variants that are common in the population from those that are rare or absent, and provides gene-level measures related to tolerance of damaging changes.

Skill for Claude Code

Written for Claude Code: allowed-tools in frontmatter.

Part of the alterlab-databases plugin — 39 skills shipped together

Good fit Use it to check population allele frequencies, filter candidate variants for rare-disease research, assess variant evidence, and review gene constraint scores.

Compare 6 skills from other repositories ↓
Install with agentmods
npx agentmods add skills/alterlab-ieu/alterlab-academic-skills/alterlab-gnomad
Install

Getting it into your agent

One page per mod, every tool's command on it. A separate URL per tool would split the same page into five that compete with each other.

Any agent
npx skills add AlterLab-IEU/AlterLab-Academic-Skills --skill alterlab-gnomad
Clone the repo
git clone --depth 1 https://github.com/AlterLab-IEU/AlterLab-Academic-Skills

Made for: Claude Code.

Or install alterlab-databases, the plugin that ships this one along with the rest of its 39 skills.

Wrote this? Show the measurements

A badge with what this costs and how it scanned, read live from this page, so it follows the numbers instead of freezing them. Markdown for a README, HTML for a documentation site or a project page.

agentmods badge for alterlab-gnomad

README.md
[![agentmods](https://agentmods.dev/badge/skills/alterlab-ieu/alterlab-academic-skills/alterlab-gnomad/github.svg)](https://agentmods.dev/skills/alterlab-ieu/alterlab-academic-skills/alterlab-gnomad)
Your own site
<a href="https://agentmods.dev/skills/alterlab-ieu/alterlab-academic-skills/alterlab-gnomad"><img src="https://agentmods.dev/badge/skills/alterlab-ieu/alterlab-academic-skills/alterlab-gnomad/github.svg" alt="Measured on agentmods" height="20"></a>

Or the 80×15 button, for a site that already has a row of RSS and ATOM ones. Only the verdict fits; the numbers stay here.

agentmods 80×15 button for alterlab-gnomad

Your own site · 80×15
<a href="https://agentmods.dev/skills/alterlab-ieu/alterlab-academic-skills/alterlab-gnomad"><img src="https://agentmods.dev/badge/skills/alterlab-ieu/alterlab-academic-skills/alterlab-gnomad.svg" alt="Reviewed on agentmods" width="80" height="20"></a>
Per session 80 Skills are progressive disclosure: only the name and description are preloaded; the body loads when the skill is used.
When invoked 3,769 The whole file, excluding the scripts and references it only reads on demand.
Security scan A 1 finding. A grade says what 26 rules found in the file — not that it is safe. Third-party audits
  • NVIDIA SkillSpector warn 7 Sept 2026
SkillSpector: 5 findings, up to medium

These are SkillSpector’s own severities. On a checked sample its high-severity flags on skills were ~96% false positives — a documented command, a public API, a “never do X” rule — so we show them as a caution to read, not a verdict. Why →

  • medium Data Exfiltration · line 104
    Data is being sent to an external URL. This could be legitimate telemetry or data exfiltration. Manual review is recommended.
    Fix: Verify the destination URL is trusted and necessary. Remove or replace with documented APIs. Ensure no secrets, tokens, or PII are transmitted.
  • medium Data Exfiltration · line 181
    Data is being sent to an external URL. This could be legitimate telemetry or data exfiltration. Manual review is recommended.
    Fix: Verify the destination URL is trusted and necessary. Remove or replace with documented APIs. Ensure no secrets, tokens, or PII are transmitted.
  • medium Data Exfiltration · line 241
    Data is being sent to an external URL. This could be legitimate telemetry or data exfiltration. Manual review is recommended.
    Fix: Verify the destination URL is trusted and necessary. Remove or replace with documented APIs. Ensure no secrets, tokens, or PII are transmitted.
  • medium Data Exfiltration · line 294
    Data is being sent to an external URL. This could be legitimate telemetry or data exfiltration. Manual review is recommended.
    Fix: Verify the destination URL is trusted and necessary. Remove or replace with documented APIs. Ensure no secrets, tokens, or PII are transmitted.
  • medium Data Exfiltration · line 349
    Data is being sent to an external URL. This could be legitimate telemetry or data exfiltration. Manual review is recommended.
    Fix: Verify the destination URL is trusted and necessary. Remove or replace with documented APIs. Ensure no secrets, tokens, or PII are transmitted.
How audits are shown
Origin original No closer match found in the catalogue.
Token cost

What it costs to keep this loaded

Counted locally with the o200k_base tokenizer, which is exact for GPT models; Claude uses its own tokenizer and its counts differ. Treat this as one consistent yardstick across the catalogue rather than a bill. Prices are per million input tokens.

ModelPer sessionOnce invoked
Fable 5.1 $0.00080 $0.03769
Opus 5 $0.00040 $0.01885
Sonnet 5 $0.00016 $0.00754
Haiku 4.5 $0.00008 $0.00377

Measured 7d ago against content hash b4d2b17bd2a8, method: parsed. Prices are Anthropic first-party input rates as of 2026-09-12, from the pricing page.

Security

Grade A, and why

alterlab-gnomad scanned grade A with 1 finding against 26 rules in 11 categories — prompt injection, anti-refusal, data exfiltration, privilege escalation, supply chain, agent snooping, system-prompt leakage, SSRF and excessive agency — measured 7d ago.

The scan reads SKILL.md. This mod also ships 1 executable file (scripts/query_gnomad.py), listed below but not scanned — reading those needs a real analyzer, not pattern matching.

A static scan of the body, not an audit. Every finding is printed with the line that produced it so you can judge whether it matters here. A mod is markdown that instructs an agent; that is exactly why what it instructs is worth reading.

Makes network callslowCapability

Not a fault in itself. Listed so you know the mod talks to something, and to what.

allowed-tools: Read WebFetch Bash(curl:*) Bash(python:*)
skills/databases/alterlab-gnomad/SKILL.md · 421 lines

How it starts

The opening of the file, as written. The whole thing — 421 lines — stays where its author put it; the contents beside it link to each section on GitHub.

gnomAD Database

Overview

The Genome Aggregation Database (gnomAD) is the largest publicly available collection of human genetic variation, aggregated from large-scale sequencing projects. gnomAD v4 contains exome sequences from 730,947 individuals and genome sequences from 76,215 individuals across diverse ancestries. It provides population allele frequencies, variant consequence annotations, and gene-level constraint metrics that are essential for interpreting the clinical significance of genetic variants.

Key resources:

When to Use This Skill

Use gnomAD when:

  • Variant frequency lookup: Checking if a variant is rare, common, or absent in the general population
  • Pathogenicity assessment: Rare variants (MAF < 1%) are candidates for disease causation; gnomAD helps filter benign common variants
  • Loss-of-function intolerance: Using pLI and LOEUF scores to assess whether a gene tolerates protein-truncating variants
  • Population-stratified frequencies: Comparing allele frequencies across ancestries (African/African American, Admixed American, Ashkenazi Jewish, East Asian, Finnish, Middle Eastern, Non-Finnish European, South Asian)
  • ClinVar/ACMG variant classification: gnomAD frequency data feeds into BA1/BS1 evidence codes for variant classification
  • Constraint analysis: Identifying genes depleted of missense or loss-of-function variation (z-scores, pLI, LOEUF)

Core Capabilities

1. gnomAD GraphQL API

gnomAD uses a GraphQL API accessible at https://gnomad.broadinstitute.org/api. Most queries fetch variants by gene or specific genomic position.

Datasets available (values of the DatasetId enum):

  • gnomad_r4 — gnomAD v4, GRCh38 (recommended default; returns both exome and genome blocks per variant — there is no separate gnomad_r4_genomes id)
  • gnomad_r3 — gnomAD v3 genomes, GRCh38
  • gnomad_r2_1 — gnomAD v2, GRCh37 (use only for GRCh37 compatibility)

Read the full file on GitHub · 421 lines

Files

What ships with it

4 files beside SKILL.md in the same directory: the scripts, references and assets a skill reads on demand. Not counted in the per-session cost; read them before you install if any of them is executable.

Changes

What this file has done since we first saw it

Hashed on every crawl. A supply-chain change to an agent config is a question of when, not whether, so the history is kept rather than the latest state alone.

  1. 7d ago First seen · 421 lines · 80 tokens per session scan A b4d2b17bd2a8

Subscribe to this mod's changes

alterlab-gnomad is a skill published in the GitHub repository AlterLab-IEU/AlterLab-Academic-Skills (66 stars, last pushed 8d ago), licensed MIT. It adds 80 tokens to every session and 3,769 once invoked, about $0.0004 per session on Opus 5. A static security scan graded it A with 1 finding (makes network calls). No closer match exists in the catalogue, so it is treated as the original; first seen 2026-09-05.

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