gwas-database

Query GWAS Catalog REST APIs for SNP-trait associations and study metadata.

15|2|Updated Dec 17, 2025
One-click install
npx skills add https://github.com/rubensliv/k-dense-ai --skill gwas-database-rubensliv
Or copy as Structured Prompt for Agent
Please help me install this Agent Skill.
Skill: gwas-database
Source: https://github.com/rubensliv/k-dense-ai/tree/main/scientific-skills/gwas-database
Command: npx skills add https://github.com/rubensliv/k-dense-ai --skill gwas-database-rubensliv

SYSTEM DOCUMENTATION & REQUIREMENTS

💡 This Skill includes references (resource) components.

What problem does it solve?

GWAS Catalog data is scattered across publications; this Skill centralizes access to SNP-trait associations, p-values, effect sizes, and study metadata via REST APIs and summary statistics.

Core Features & Use Cases

  • Retrieve associations by variant, trait, or gene
  • Access full study metadata and summary statistics for downstream analyses
  • Support workflows for genetic epidemiology, meta-analyses, and polygenic risk scoring

Quick Start

Query the GWAS Catalog for a given rsID or trait and fetch the top significant associations to begin analysis.

Frequently Asked Questions about gwas-database

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

FAQPage Schema
How do I fetch SNP-trait associations and p-values from the GWAS Catalog?

To fetch SNP-trait associations and p-values from the GWAS Catalog, query by variant, trait, or gene using the REST API endpoints. This retrieves effect sizes and full study metadata for downstream genetic epidemiology workflows.

Can I retrieve GWAS summary statistics for polygenic risk score analysis?

Yes, you can retrieve GWAS summary statistics for polygenic risk scoring. The Skill accesses the Summary Statistics API and full study metadata, supporting meta-analyses and variant annotation across genomic regions.

What is the best way to query EFO traits and rsIDs across multiple genomic studies?

The best way to query EFO traits and rsIDs across studies is by targeting the REST API endpoints for associations, variants, and traits. Pagination and HAL-formatted responses handle large result sets for systemic reviews.

Does the GWAS Catalog API support pagination for large association queries?

Yes, the GWAS Catalog API supports pagination for large association queries. It returns HAL-formatted responses, allowing you to systematically retrieve extensive SNP-trait association datasets and study metadata without data loss.

How do I get effect sizes and study metadata for variant annotation?

To get effect sizes and study metadata for variant annotation, query the GWAS Catalog associations endpoint with a specific rsID or trait. This centralizes scattered publication data into structured summary statistics for analysis.