alterlab-clinvar

alterlab-clinvar is a skill for Claude Code from AlterLab-IEU/AlterLab-Academic-Skills. It costs 133 tokens per session (3,638 once invoked), scanned A, a copy of clinvar-database, MIT.

A programming interface to ClinVar, an NCBI archive of human genetic variants and their reported links to health conditions. It helps find clinical significance ratings such as pathogenic, benign, or uncertain.

In plain words
What is it for?
Use it to search variants by gene, condition, genomic position, or variant details. It can support genetic research and annotate variant call data with clinical significance.
Why use it?
It removes the need to search ClinVar manually or combine scattered variant reports. It also helps compare conflicting interpretations and review the evidence level behind ratings.

Skill for Claude Code

Written for Claude Code: allowed-tools in frontmatter. Also seen: positional $N argument.

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

Good fit Use it to search variants by gene, condition, genomic position, or variant details. It can support genetic research and annotate variant call data with clinical significance.

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

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

Your own site · 80×15
<a href="https://agentmods.dev/skills/alterlab-ieu/alterlab-academic-skills/alterlab-clinvar"><img src="https://agentmods.dev/badge/skills/alterlab-ieu/alterlab-academic-skills/alterlab-clinvar.svg" alt="Reviewed on agentmods" width="80" height="20"></a>
Per session 133 Skills are progressive disclosure: only the name and description are preloaded; the body loads when the skill is used.
When invoked 3,638 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.
Origin 88% copy Near-identical to another mod 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 $0.00133 $0.03638
Opus 5 $0.00067 $0.01819
Sonnet 5 $0.00027 $0.00728
Haiku 4.5 $0.00013 $0.00364

Measured 8d ago against content hash e2ea5b793f13, method: parsed. Prices are Anthropic first-party input rates as of 2026-09-11, from the pricing page.

Security

Grade A, and why

alterlab-clinvar 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 8d ago.

The scan reads SKILL.md. This mod also ships 1 executable file (scripts/query_clinvar.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:*)
Origin

This is a copy

88% identical to clinvar-database — 63 lines differ, which has more behind it and is treated as the original. This page carries a canonical link to it rather than competing with it.

skills/databases/alterlab-clinvar/SKILL.md · 377 lines

How it starts

The opening of the file, as written. The whole thing — 377 lines — stays where its author put it; the contents beside it link to each section on GitHub.

ClinVar Database

Overview

ClinVar is NCBI's freely accessible archive of reports on relationships between human genetic variants and phenotypes, with supporting evidence. The database aggregates information about genomic variation and its relationship to human health, providing standardized variant classifications used in clinical genetics and research.

When to Use This Skill

This skill should be used when:

  • Searching for variants by gene, condition, or clinical significance
  • Interpreting clinical significance classifications (pathogenic, benign, VUS)
  • Accessing ClinVar data programmatically via E-utilities API
  • Downloading and processing bulk data from FTP
  • Understanding review status and star ratings
  • Resolving conflicting variant interpretations
  • Annotating variant call sets with clinical significance

Core Capabilities

1. Search and Query ClinVar

Web Interface Queries

Search ClinVar using the web interface at https://www.ncbi.nlm.nih.gov/clinvar/

Common search patterns (field tags verified against the live einfo field list — there is no [CLNSIG] or [RVSTAT] field; using them silently falls back to [All Fields] and does NOT filter):

  • By gene: BRCA1[gene]
  • By clinical significance: clinsig_pathogenic[Properties] (also clinsig_likely_pathogenic, clinsig_benign, clinsig_likely_benign, clinsig_uncertain, clinsig_has_conflicts)
  • By review status: "reviewed by expert panel"[Review status], "practice guideline"[Review status], "criteria provided, single submitter"[Review status]
  • By condition: "breast cancer"[Disease/Phenotype]
  • By variant: "c.1310_1313del"[Variant name]
  • By chromosome: 13[chr]
  • Combined: BRCA1[gene] AND clinsig_pathogenic[Properties]
Programmatic Access via E-utilities

Access ClinVar programmatically using NCBI's E-utilities API. Refer to references/api_reference.md for comprehensive API documentation including:

  • esearch - Search for variants matching criteria
  • esummary - Retrieve variant summaries
  • efetch - Download full XML records
  • elink - Find related records in other NCBI databases

Read the full file on GitHub · 377 lines

Files

What ships with it

5 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. 8d ago First seen · 377 lines · 133 tokens per session scan A e2ea5b793f13

Subscribe to this mod's changes

alterlab-clinvar is a skill published in the GitHub repository AlterLab-IEU/AlterLab-Academic-Skills (66 stars, last pushed 6d ago), licensed MIT. It adds 133 tokens to every session and 3,638 once invoked, about $0.0007 per session on Opus 5. A static security scan graded it A with 1 finding (makes network calls). It is 88% identical to clinvar-database, differing in 63 lines, and is treated as a copy.

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