gwas-database

Query the GWAS Catalog REST API for SNP-trait associations and variant data.

48|6|Updated Mar 9, 2026
One-click install
npx skills add https://github.com/qinyan-ai/qinyan-academic-skills --skill gwas-database-qinyan-ai
Or copy as Structured Prompt for Agent
Please help me install this Agent Skill.
Skill: gwas-database
Source: https://github.com/qinyan-ai/qinyan-academic-skills/tree/main/skills/12-%E7%A7%91%E5%AD%A6%E6%95%B0%E6%8D%AE%E5%BA%93/gwas-database
Command: npx skills add https://github.com/qinyan-ai/qinyan-academic-skills --skill gwas-database-qinyan-ai

SYSTEM DOCUMENTATION & REQUIREMENTS

💡 This Skill includes references (resource) components.

What problem does it solve?

The GWAS Catalog provides a comprehensive resource of published SNP-trait associations, and this Skill offers a streamlined way to query the catalog programmatically to obtain variant-level associations, p-values, effect sizes, and downloadable summary statistics for downstream analyses.

Core Features & Use Cases

  • Search by variant, trait, gene, or publication: Retrieve associations and study metadata across multiple GWAS publications.
  • Access p-values, effect sizes, and summary statistics: Retrieve genome-wide significant results and study-level metadata for interpretation and meta-analysis.
  • Programmatic workflows: Leverage REST API endpoints and FTP summary statistics for automated data extraction and integration into research pipelines.

Quick Start

Query the GWAS Catalog for trait associations by EFO ID or rsID to retrieve variant-level results.

Frequently Asked Questions about gwas-database

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

FAQPage Schema
How do I query the GWAS Catalog for SNP-trait associations by rsID?

To query SNP-trait associations by rsID, search the GWAS Catalog REST API using the variant endpoint, which returns genome-wide significant p-values, effect sizes, and links to summary statistics for the specified rsID.

What is the best way to programmatically retrieve summary statistics from the GWAS Catalog?

The best way to retrieve summary statistics programmatically is querying the GWAS Catalog REST API endpoints, which provide HAL-formatted JSON responses with direct links to downloadable summary statistics via FTP for downstream pipelines.

Can I search the GWAS Catalog by EFO trait terms and genes?

Yes, you can search the GWAS Catalog by EFO trait terms, genes, variants, and publications to retrieve matching SNP-trait associations, study metadata, and summary statistics across multiple published GWAS.

How does pagination work when retrieving variant data from the GWAS Catalog REST API?

Pagination in the GWAS Catalog REST API works by returning HAL-formatted JSON responses with navigation links, allowing you to systematically retrieve large sets of variant data and associations across multiple pages.

What metadata is available when querying GWAS studies for genetic associations?

Querying GWAS studies provides study-level metadata including p-values, effect sizes, variant associations, and links to summary statistics, enabling interpretation and meta-analysis of published genome-wide association results.

Are there limitations to extracting associations from the GWAS Catalog via REST API?

Limitations include handling pagination for large queries and parsing HAL-formatted JSON responses, as the REST API provides structured data links rather than directly pre-processed association tables for analysis.