skills.rest
OwnLabAI
OwnLabAIOFFICIAL
Explore all skills by this author →
GitHub

gnomad-database

Query gnomAD GraphQL API for allele frequencies, constraint scores, and LoF annotations.

21|1|Updated Mar 19, 2026
Search Tags:#genomics#variant-interpretation#gnomad#allele-frequency#constraint-scores#pLI#LOEUF
One-click install
npx skills add https://github.com/OwnLabAI/ownlab --skill gnomad-database-ownlabai
Or copy as Structured Prompt for Agent▼
Please help me install this Agent Skill.
Skill: gnomad-database
Source: https://github.com/OwnLabAI/ownlab/tree/main/mart/skills/scientific-skills/gnomad-database
Command: npx skills add https://github.com/OwnLabAI/ownlab --skill gnomad-database-ownlabai

SYSTEM DOCUMENTATION & REQUIREMENTS

💡 This Skill includes references (resource) components.

What problem does it solve?

gnomAD data is essential for interpreting genetic variants; this skill enables researchers and clinicians to quickly fetch population allele frequencies, constraint scores (pLI/LOEUF), and loss-of-function annotations from gnomAD to support clinical and research variant assessments.

Core Features & Use Cases

  • Gene- and variant-centered queries against gnomAD datasets (gnomad_r4, gnomad_r4_genomes, gnomad_r3, gnomad_r2_1) to retrieve allele frequencies, lof status, and population-specific AFs.
  • Constraint analysis support: pLI, LOEUF, observed/expected metrics to prioritize candidate genes.
  • Integrations: GraphQL-based access and ready-to-use Python examples for quick analysis.

Quick Start

Query gnomAD for a gene like BRCA1 to retrieve frequency and constraint data.

Frequently Asked Questions about gnomad-database

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

FAQPage Schema
How do I retrieve population allele frequencies from gnomAD for variant interpretation?▼

You can retrieve gnomAD population allele frequencies by performing gene- or variant-centered queries across datasets like gnomad_r4 or gnomad_r3, which return structured ancestry-specific frequency and loss-of-function annotation results.

What do constraint scores like pLI and LOEUF mean for prioritizing candidate genes?▼

Constraint scores like pLI and LOEUF measure a gene's intolerance to loss-of-function variation. Querying gnomAD provides observed/expected metrics to help prioritize candidate genes in clinical and research assessments.

Can I query older gnomAD datasets like gnomad_r2_1 alongside newer versions?▼

Yes, you can query older gnomAD datasets like gnomad_r2_1 alongside newer versions. The skill supports multiple datasets including gnomad_r4, gnomad_r4_genomes, gnomad_r3, and gnomad_r2_1 for comparative frequency lookups.

How do I handle absent data or missing ancestry-specific frequencies in gnomAD query results?▼

The skill provides specific guidance for handling absent data and missing ancestry-specific frequencies in gnomAD query results, ensuring structured outputs remain suitable for accurate clinical analysis.

Does the gnomAD GraphQL API support structured results for integration into Python analyses?▼

Yes, the gnomAD GraphQL API supports structured results suitable for integration into Python analyses. The skill provides ready-to-use Python examples for querying frequency comparisons and constraint interpretations.

Related Skills

Explore More Data & Analytics Skills→
ammawlaammawla
26

gnomad-variants

Query gnomAD allele frequencies and gene constraint scores via GraphQL API.

Community
Intermediate
NeuroAIHubNeuroAIHub
269

gnomad-database

Query gnomAD for allele frequencies, gene constraint metrics, and variant lists.

Official
Intermediate
felixboehmfelixboehm

gnomad-database

Query gnomAD's GraphQL API for allele frequencies and constraint scores.

Community
Intermediate
exon-researchexon-research
475

genomi-gnomad

Fetch population allele frequencies for a specified variant from gnomAD.

Official
Basic