gnomad

Characterization of Germline variants

Scalable SQLite database for fast querying of gnomAD variant annotations (allele frequency, depth, population metrics). Supports gnomAD v2-v4, WGS and WES.

[deprecated] 🧬 Python API to fetch gnomAD data

An AI-driven genomic intelligence system delivering structured ClinVar interpretation and high-precision exon, intron, and gene queries using the Model Context Protocol (MCP).

PyGeneBe: A Python client seamlessly integrating with the GeneBe platform, offering efficient annotation of genetic variants through its API, while supporting pandas, VCF file formats, and HGVS parsing

MetaDome is aimed at professionals in the (bio-)medical field of human genetics who wish to visualize the position of their variant of interest in the context of general population-based genetic variation, and provides detailed information on pathogenic variants found across homologous protein domain positions, for GRCh37 and GRCh38.

Analyze human genetic knockouts to predict drug efficacy and side effects

Identification of cancer-causing variants

Reproducible variant interpretation across the human Na+/K+-ATPase alpha-subunit family (ATP1A1–ATP1A4): conservation, structure, ClinVar curation, gnomAD constraint and AlphaMissense, integrated without circular reasoning.

Using gnomad-browser's GraphQL updated API to retrieve total joint allele frequencies, exome/genome allele frequencies and homozygote counts as well as population specific numbers for a batch of variants.

Narrows 2.3M ClinVar variants of uncertain significance to 306 cardiovascular reclassification candidates, combining gnomAD population frequencies with AlphaMissense predictions across 71.7M scored variants.

Computational pipeline for prioritizing structurally tractable pharmacologic rescue candidates across KCNQ1-KCNQ5.

ML pipeline for pathogenic variant analysis in scoliosis genes using ClinVar, gnomAD, UMAP, and KMeans clustering

MCP server for gnomAD (Genome Aggregation Database): variant allele frequencies, gene constraint, coverage, structural and mitochondrial variants, and liftover — as typed tools for LLM agents.

Reproducible APOL1 G1/G2 allele-frequency analysis using gnomAD, 1000 Genomes, and ABraOM