alterlab-gwas

alterlab-gwas is a skill for Claude Code from AlterLab-IEU/AlterLab-Academic-Skills. It costs 85 tokens per session (1,611 once invoked), scanned A, original, MIT.

A query tool for the GWAS Catalog, a public database of genetic studies that links DNA variants with diseases and other traits. It can retrieve variant, trait, gene, study, and statistical information through the catalog's web API.

In plain words
What is it for?
Use it to look up an rs ID, find variants linked to a disease or trait, inspect gene associations, retrieve study metadata, or obtain summary statistics for genetic analysis.
Why use it?
It avoids manually searching many published genome-wide association studies, where researchers test many genetic variants for links to traits. It puts related associations and study details into a queryable form.

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 look up an rs ID, find variants linked to a disease or trait, inspect gene associations, retrieve study metadata, or obtain summary statistics for genetic analysis.

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

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

Your own site · 80×15
<a href="https://agentmods.dev/skills/alterlab-ieu/alterlab-academic-skills/alterlab-gwas"><img src="https://agentmods.dev/badge/skills/alterlab-ieu/alterlab-academic-skills/alterlab-gwas.svg" alt="Reviewed on agentmods" width="80" height="20"></a>
Per session 85 Skills are progressive disclosure: only the name and description are preloaded; the body loads when the skill is used.
When invoked 1,611 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 pass 7 Sept 2026
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 $0.00085 $0.01611
Opus 5 $0.00043 $0.00805
Sonnet 5 $0.00017 $0.00322
Haiku 4.5 $0.00009 $0.00161

Measured 7d ago against content hash a58b88e9ff52, method: parsed. Prices are Anthropic first-party input rates as of 2026-09-11, from the pricing page.

Security

Grade A, and why

alterlab-gwas 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_gwas.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-gwas/SKILL.md · 96 lines

How it starts

The opening of the file, as written. The whole thing — 96 lines — stays where its author put it; the contents beside it link to each section on GitHub.

GWAS Catalog Database

Overview

The GWAS Catalog is a curated repository of published genome-wide association studies maintained by NHGRI and EBI. It contains SNP-trait associations from thousands of GWAS publications — genetic variants, associated traits and diseases, p-values, effect sizes, and full summary statistics for many studies.

Scripts

scripts/query_gwas.py — query the GWAS Catalog REST API (stdlib only, JSON to stdout):

python scripts/query_gwas.py variant rs7903146           # associations for a SNP
python scripts/query_gwas.py trait MONDO_0005148 --size 100  # associations for a trait
python scripts/query_gwas.py study GCST001795            # study metadata

When to Use This Skill

Use this skill for:

  • Genetic variant associations — SNPs associated with diseases or traits
  • SNP lookups — information about specific variants (rs IDs)
  • Trait/disease searches — genetic associations for phenotypes
  • Gene associations — variants in or near specific genes
  • GWAS summary statistics — complete genome-wide association data
  • Study metadata — publication and cohort information
  • Population genetics — ancestry-specific associations
  • Polygenic risk scores — variants for risk prediction models
  • Functional genomics / systematic reviews — variant effects, literature synthesis

Data Model

Four core entities, each with a canonical identifier:

  • StudiesGCST accessions (e.g., GCST001234)
  • Associations → SNP-trait links with p-values (genome-wide significant: p ≤ 5×10⁻⁸)
  • Variantsrs numbers (e.g., rs7903146)
  • Traits → trait ontology short-forms (e.g., MONDO_0005148 = type 2 diabetes on the main REST API); genes use HGNC symbols (e.g., TCF7L2)

Trait-ID gotcha (verified): the two APIs disagree on trait IDs. The main REST API has migrated many traits to MONDO / current EFO short-forms, so efoTraits/MONDO_0005148 works but the legacy efoTraits/EFO_0001360 now 404s. The Summary Statistics API still uses the legacy ID: traits/EFO_0001360 works there but traits/MONDO_0005148 404s. If a trait path 404s, look up the current short-form with /efoTraits/search/findByTrait?trait=... (main API) before assuming the trait is absent.

Read the full file on GitHub · 96 lines

Files

What ships with it

6 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 · 96 lines · 85 tokens per session scan A a58b88e9ff52

Subscribe to this mod's changes

alterlab-gwas is a skill published in the GitHub repository AlterLab-IEU/AlterLab-Academic-Skills (66 stars, last pushed 7d ago), licensed MIT. It adds 85 tokens to every session and 1,611 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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