gwas-database

Query the NHGRI-EBI GWAS Catalog REST API for SNP-trait associations and study metadata.

1|Updated Jan 14, 2026
One-click install
npx skills add https://github.com/Sologa/codex-pipeline --skill gwas-database-sologa
Or copy as Structured Prompt for Agent
Please help me install this Agent Skill.
Skill: gwas-database
Source: https://github.com/Sologa/codex-pipeline/tree/main/.codex/skills/gwas-database
Command: npx skills add https://github.com/Sologa/codex-pipeline --skill gwas-database-sologa

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 efficiently query and retrieve associations between genetic variants (SNPs) and traits or diseases.

Core Features & Use Cases

  • SNP-Trait Association Lookup: Find traits associated with a specific SNP (rs ID).
  • Trait-Variant Search: Discover genetic variants linked to a particular disease or trait.
  • Gene-Variant Retrieval: Identify SNPs located within or near a specified gene.
  • Summary Statistics Access: Query and download detailed summary statistics for genome-wide association studies.
  • Use Case: A researcher wants to find all known associations for the rs123456 SNP and retrieve the p-values and effect sizes for each.

Quick Start

Use the gwas-database skill to find all trait associations for the variant rs7903146.

Frequently Asked Questions about gwas-database

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

FAQPage Schema
How do I find SNP-trait associations for a specific variant like rs7903146?

To find SNP-trait associations for a specific variant like rs7903146, query the NHGRI-EBI GWAS Catalog via REST API using the variant ID to retrieve matching traits, p-values, and effect sizes.

What is the best way to retrieve GWAS summary statistics for a specific trait or disease?

The best way to retrieve GWAS summary statistics for a specific trait or disease is to query the GWAS Catalog API by trait name, which returns detailed study metadata and downloadable summary statistics for genome-wide association studies.

Can I search for genetic variants linked to a particular gene or chromosomal region?

Yes, you can search for genetic variants linked to a particular gene or chromosomal region by querying the GWAS Catalog API with gene names or genomic coordinates to identify associated SNPs and their trait associations.

Does querying the GWAS Catalog return p-values and effect sizes for SNP associations?

Yes, querying the GWAS Catalog returns p-values and effect sizes for SNP associations, providing the necessary summary statistics to facilitate genetic epidemiology research and polygenic risk score development.

When do I need to access the NHGRI-EBI GWAS Catalog programmatically for bioinformatics research?

You need to access the NHGRI-EBI GWAS Catalog programmatically for bioinformatics research when developing polygenic risk scores or conducting genetic epidemiology studies that require bulk retrieval of SNP-trait associations and summary statistics.

What are the limitations of using the GWAS Catalog for genetic epidemiology research?

A limitation of using the GWAS Catalog for genetic epidemiology research is that retrieval depends entirely on the catalog's existing study metadata and published summary statistics, which may not cover unpublished or rare variant associations.