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

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

Some BASH Projects

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

Identification of cancer-causing variants

R package to access gnomAD API (under development)

shiny web-app

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

Convert VCF files with AF (e.g., ToMMo/jMorp, gnomAD) to ANNOVAR database format.