Annotate genetic variants with regulatory impact

Query and manipulate Ensembl gene annotations (transcripts, variants, orthologs)

Genomics workflows where you need canonical gene structure, variant consequences, or cross-species orthologs; authoritative source (if on-date).

• · gene ID (ENSG... / HGNC symbol)
• · variant coordinate (chr:pos:ref:alt)
• · species (human, mouse, fly)

• · transcript isoforms (ENST... with exons, domains)
• · variant consequence (missense, frameshift, regulatory)
• · ortholog gene IDs across species

• · Ensembl REST API
• · VEP (Variant Effect Predictor)

Ensembl API accessible; gene/variant identifiers valid; species matches assembly (GRCh38 for human)

• · stale cache returns outdated annotations (Ensembl releases quarterly)
• · VEP variant format misspecified → 'not found' error
• · ambiguous HGNC symbol (multiple ENSG) → need manual resolution

• · VEP integration
• · Quarterly release schedule documented
• · REST API versioning