db-gnomad

Name: db-gnomad
Availability: InStock
Author: biomaps-infra

Query gnomAD genetic variant allele frequencies and gene constraint metrics via GraphQL API.

Updated Mar 13, 2026

Search Tags:#genetics #variant interpretation #gnomad #pathogenicity #gene constraint #population frequency

Ready to run

npx skills add https://github.com/biomaps-infra/blender-opencode --skill db-gnomad

💬 Prompt for ChatGPT / Claude Chat▼

Please help me install this Agent Skill.
Skill: db-gnomad
Source: https://github.com/biomaps-infra/blender-opencode/tree/main/.opencode/skills/db-gnomad
Command: npx skills add https://github.com/biomaps-infra/blender-opencode --skill db-gnomad

SYSTEM DOCUMENTATION & REQUIREMENTS

💡 This Skill requires requests, pandas, and includes references (resource) components.

What problem does it solve?

This Skill provides access to the Genome Aggregation Database (gnomAD) to help interpret the pathogenicity of genetic variants by querying population allele frequencies, variant constraint scores, and loss-of-function intolerance metrics.

Core Features & Use Cases

Variant Frequency Lookup: Determine if a variant is rare or common across diverse populations.
Gene Constraint Analysis: Assess a gene's tolerance to loss-of-function or missense variation using pLI and LOEUF scores.
Pathogenicity Interpretation: Aid in variant classification by leveraging gnomAD data for ACMG criteria.
Use Case: Given a rare variant identified in a patient, use this Skill to check its allele frequency in gnomAD across different ancestries and to evaluate the constraint of the affected gene to understand its potential impact.

Quick Start

Query gnomAD for the gene symbol BRCA1 to retrieve its variants and constraint scores.

Frequently Asked Questions about db-gnomad

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

FAQPage Schema

How do I query gnomAD for genetic variant allele frequencies across populations?▼

To query gnomAD for genetic variant allele frequencies across populations, use this Skill to access the gnomAD GraphQL API via Python requests and retrieve population-specific data. It facilitates variant pathogenicity interpretation by determining if a variant is rare or common in diverse ancestries.

What is gene constraint analysis and how do I check loss-of-function intolerance for a gene?▼

Gene constraint analysis assesses a gene's tolerance to variation using pLI and LOEUF scores. You can check loss-of-function intolerance by querying the gnomAD database to retrieve constraint metrics, helping identify genes intolerant to loss-of-function variation.

Can I use gnomAD population frequency data for ACMG variant pathogenicity interpretation?▼

Yes, you can use gnomAD population frequency data for ACMG variant pathogenicity interpretation. The Skill retrieves allele frequencies and constraint scores to aid variant classification, supporting rare disease genetics research by evaluating variant impact.

How do I retrieve gnomAD constraint scores for a gene like BRCA1 using Python?▼

To retrieve gnomAD constraint scores for a gene like BRCA1 using Python, query the gnomAD GraphQL API endpoints with the gene symbol. This Skill uses Python requests and pandas to fetch and structure the gene data, including loss-of-function intolerance metrics.

Does this gnomAD API query tool require pandas to process variant data?▼

Yes, this gnomAD API query tool requires pandas to process variant data. It utilizes Python requests to interact with the gnomAD API endpoints and pandas to handle the retrieved genetic variant allele frequencies and gene constraint metrics.