gnomad

Characterization of Germline variants

Explore gnomAD datasets on the web

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).

Variant Agents: Multi-Agent Genomic Analysis

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

Some BASH Projects

The ProteoGenomics database generation workflow creates different protein databases for ProteoGenomics data analysis.

Candidate flanking-SNP marker panels for PGT-M linkage before an experiment. After one, parent of origin from SNP arrays, and a parental genotype reconstructed from haploid cells. Research use only.

R package to access gnomAD API (under development)

Fast, memory-efficient toolkit for querying Hail tables and VCFs, exporting genomic data, and running distributed GCP jobs.

Identification of cancer-causing variants

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.

Ancestry allele frequencies, LoF constraint, variant lists, and coverage from gnomAD, joined with ClinVar clinical significance - via MCP. STDIO or Streamable HTTP.

Research tool for exploring carrier frequencies and recurrence risks for autosomal recessive conditions using gnomAD population data. For research use only.

R pipeline for population-specific variant frequency analysis using gnomAD data — includes MAF calculation, Fisher's Exact Test with Bonferroni correction, and bubble plot visualization across 11 global populations

shiny web-app