gwas-database

Name: gwas-database
Availability: InStock
Author: rubensliv

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

15|2|Updated Dec 17, 2025

Search Tags:#associations #genetics #summary-statistics #gwas #snp #gwas-catalog #efo

Ready to run

npx skills add https://github.com/rubensliv/k-dense-ai --skill gwas-database-rubensliv

💬 Prompt for ChatGPT / Claude Chat▼

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.