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.

Fast Rust reimplementation of Ensembl VEP (Variant Effect Predictor): same flags and output formats, 100x+ faster

[deprecated] 🧬 Python API to fetch gnomAD data

Variant Agents: Multi-Agent Genomic Analysis

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.

Rare-disease plugin for Mirobody — codes clinical narratives to HPO, reads trio VCF/PED, DICOM and EEG attachments, and ranks Orphanet diagnoses for AI agents.

Analyze human genetic knockouts to predict drug efficacy and side effects

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

Some BASH Projects

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

R package to access gnomAD API (under development)

Identification of cancer-causing variants

A lightweight R Shiny app for reviewing a gene or variant across ClinVar, gnomAD, Ensembl, Open Targets, and more, with an optional AI assistant.

Why the best genetically validated pain target keeps failing in the clinic: a genetic–pharmacological asymmetry at Nav1.7 (SCN9A), worked through single-cell atlases, a homeostatic-compensation model and human genetics.

Local-first VCF/gVCF genetic variant annotation desktop app for research use only (Windows, 23andMe, FASTA, gnomAD)

Local, privacy-first analyser for your own whole-genome sequencing data: FASTQ to GRCh38 calls with DeepVariant on your own machine, graded against ClinVar, gnomAD and ClinGen, with pharmacogenomics (PharmCAT, CPIC), polygenic scores, haplogroups and repeat expansions. Nothing leaves your machine unless you ask; a monthly refresh shows what's new.