gnomAD

Provides integration with the gnomAD (Genome Aggregation Database) through ten specialized tools for querying genomic variant data via GraphQL API. The implementation offers complete genomic analysis workflow coverage including gene and variant searches, detailed variant information with population frequencies and functional annotations, transcript analysis, regional variant queries, coverage statistics, and structural variant discovery across multiple gnomAD datasets (r2.1, r3, r4) and reference genomes (GRCh37/GRCh38). Features intelligent dataset validation with automatic fallbacks to latest versions, comprehensive constraint scoring including pLI and LOEUF metrics, and support for mitochondrial variants, making it valuable for clinical geneticists analyzing variant pathogenicity, researchers studying population genetics and gene constraint, and bioinformaticians building genomic analysis pipelines that require programmatic access to gnomAD's extensive variant annotation and frequency data.