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gwas-database

Query NHGRI-EBI GWAS Catalog for SNP-trait associations. Search variants by rs ID, disease/trait, gene, retrieve p-values and summary statistics, for genetic epidemiology and polygenic risk scores.

17,798stars1,609forksUpdated 1/21/2026

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About gwas-database

The gwas-database skill enables users to query the NHGRI-EBI GWAS Catalog for comprehensive information about SNP-trait associations. This skill addresses the need for researchers and genetic epidemiologists to access curated data on genetic variants, their associated diseases or traits, and associated statistical measures such as p-values and effect sizes. By providing an organized repository of genome-wide association studies, the skill facilitates the exploration of genetic associations crucial for understanding the genetic basis of diseases and traits in diverse populations.

Among its main features, the gwas-database skill offers the ability to perform SNP lookups, trait searches, and gene association queries. It supports multiple search modes via a user-friendly web interface and provides REST API access for programmatic data retrieval. Users can leverage this skill to access detailed study metadata, population-specific genetic associations, and summary statistics, thereby enhancing their research capabilities in genetic epidemiology and functional genomics.

This skill is particularly beneficial for geneticists, epidemiologists, and researchers engaged in genomics, offering them the tools needed to identify and analyze SNPs for polygenic risk scores and systematic reviews. Whether users are investigating specific genetic variants or exploring broader associations within a trait or disease context, the gwas-database skill serves as a vital resource for advancing knowledge in genetic research and public health applications.

FAQ

How do I search for SNPs using the gwas-database skill?

You can search for SNPs using their rs ID or by querying associated traits or diseases.

Is there an API available for programmatic access?

Yes, the gwas-database skill provides REST APIs for both general GWAS data and summary statistics.

Are there any limitations to the data provided?

The data is limited to the information curated within the NHGRI-EBI GWAS Catalog and may not include the latest studies.

Can I retrieve study metadata through this skill?

Yes, you can access detailed study metadata, including publication information and cohort details.

Who can benefit from using this skill?

Researchers, geneticists, and public health professionals interested in genetic epidemiology can benefit from this skill.

Install gwas-database

Download and extract the skill files to your .claude/skills/ directory.

Quick Setup:

  1. Copy the skill folder to .claude/skills/
  2. Claude will automatically detect and use the skill