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felixboehm
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gwas-database

Query the NHGRI-EBI GWAS Catalog REST API for SNP-trait associations and variant details.

Updated Mar 10, 2026
Search Tags:#genomics#genetics#summary statistics#trait#gwas#association#snp
One-click install
npx skills add https://github.com/felixboehm/biochem-allergy --skill gwas-database-felixboehm
Or copy as Structured Prompt for Agent▼
Please help me install this Agent Skill.
Skill: gwas-database
Source: https://github.com/felixboehm/biochem-allergy/tree/main/.claude/skills/gwas-database
Command: npx skills add https://github.com/felixboehm/biochem-allergy --skill gwas-database-felixboehm

SYSTEM DOCUMENTATION & REQUIREMENTS

💡 This Skill includes references (resource) components.

What problem does it solve?

This Skill provides programmatic access to the NHGRI-EBI GWAS Catalog, enabling users to find genetic variants associated with diseases and traits, retrieve detailed association statistics, and explore genomic data for research.

Core Features & Use Cases

  • SNP-Trait Association Lookup: Find SNPs linked to specific diseases or traits.
  • Variant Information Retrieval: Get details for a given rs ID, including genomic location and associated traits.
  • Summary Statistics Access: Download or query full summary statistics for detailed analysis.
  • Use Case: A researcher wants to identify all known genetic variants associated with Type 2 Diabetes and retrieve their p-values and effect sizes to build a polygenic risk score.

Quick Start

Use the gwas-database skill to find all associations for the trait 'EFO_0001360' with a p-value less than 1e-8.

Frequently Asked Questions about gwas-database

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

FAQPage Schema
How do I find SNPs associated with a specific trait using GWAS summary statistics?▼

To find SNP-trait associations using GWAS summary statistics, query the NHGRI-EBI GWAS Catalog via REST API by trait, gene, or rs ID to retrieve associated variants, p-values, and effect sizes.

Can I retrieve genomic variant details and study metadata for a specific rs ID?▼

Yes, you can retrieve variant details and study metadata for a specific rs ID by querying the GWAS Catalog API, which returns genomic location, associated traits, and study information.

What is the best way to access full summary statistics for polygenic risk score development?▼

The best way to access full summary statistics for polygenic risk score development is querying the GWAS Catalog API to download or retrieve structured association data like p-values and effect sizes.

Does the GWAS Catalog API support searching for genetic associations by chromosomal region?▼

Yes, the GWAS Catalog API supports searching for genetic associations by chromosomal region, allowing you to find variants and traits linked to specific genomic loci.

How do I filter GWAS Catalog associations by p-value threshold for genetic epidemiology research?▼

You can filter GWAS Catalog associations by applying a p-value threshold parameter in your REST API query, such as requesting associations with a p-value less than 1e-8 for a specific trait.

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