skills.rest
pur3v4d3r
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gwas-database

Query GWAS Catalog REST API endpoints for SNP-trait associations and metadata.

6|Updated Dec 30, 2025
Search Tags:#api#catalog#genetics#summary-statistics#gwas#variant-search#trait-associations
One-click install
npx skills add https://github.com/pur3v4d3r/pur3-pkb-codebase --skill gwas-database-pur3v4d3r
Or copy as Structured Prompt for Agent▼
Please help me install this Agent Skill.
Skill: gwas-database
Source: https://github.com/pur3v4d3r/pur3-pkb-codebase/tree/main/.claude/skills/__scientific-skills/gwas-database
Command: npx skills add https://github.com/pur3v4d3r/pur3-pkb-codebase --skill gwas-database-pur3v4d3r

SYSTEM DOCUMENTATION & REQUIREMENTS

💡 This Skill includes references (resource) components.

What problem does it solve?

Enables researchers to programmatically access curated SNP-trait associations from the GWAS Catalog, removing manual browsing overhead and enabling reproducible analyses.

Core Features & Use Cases

  • Variant-centric queries: look up rsIDs to retrieve all trait associations and related study details.
  • Trait/disease searches: identify associations for phenotypes using EFO terms or disease names.
  • Gene and region exploration: discover nearby variants and gene contexts, with access to summary statistics when available.
  • Data and workflow support: fetch or download summary statistics to support PRS construction, replication, and meta-analyses.

Quick Start

Query by rsID, trait (EFO), or gene to retrieve SNP-trait associations and any available summary statistics.

Frequently Asked Questions about gwas-database

High-intent search queries and answers about installing and using this skill.

FAQPage Schema
How do I query GWAS Catalog for SNP-trait associations using an rsID?▼

Query GWAS Catalog for SNP-trait associations by providing an rsID to retrieve all linked trait associations, p-values, effect sizes, and related study metadata through variant-centric REST API endpoints.

Can I search GWAS summary statistics by EFO trait or disease name?▼

Search GWAS summary statistics by EFO trait or disease name using trait-centered queries to identify relevant SNP-trait associations and fetch available summary statistics for phenotype analyses.

What is the best way to retrieve GWAS study metadata and p-values programmatically?▼

Retrieve GWAS study metadata and p-values programmatically by querying REST API endpoints for studies and associations, using pagination and HAL links to navigate reproducible data retrieval workflows.

Does the GWAS Catalog API support gene and region searches for nearby variants?▼

The GWAS Catalog API supports gene and region searches to discover nearby variants and gene contexts, returning associated trait data and access to summary statistics when available.

How do I download GWAS summary statistics for PRS construction and meta-analyses?▼

Download GWAS summary statistics for PRS construction and meta-analyses by querying associations and studies endpoints to fetch or access available summary statistics supporting replication workflows.

Can I retrieve effect sizes and trait names from GWAS Catalog variant searches?▼

Retrieve effect sizes and trait names from GWAS Catalog variant searches by querying variant endpoints, which return curated SNP-trait associations alongside p-values and complete study details.

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