Queries the Ensembl REST API to retrieve gene annotations, sequences, variants, and comparative genomic data for over 250 species.
This skill empowers researchers and bioinformaticians to programmatically access the Ensembl genome database, a premier resource for vertebrate genomic data maintained by EMBL-EBI. It facilitates automated gene lookups, sequence extraction (DNA, cDNA, and protein), and sophisticated variant analysis using the Variant Effect Predictor (VEP). Whether performing comparative genomics to find orthologs or mapping coordinates between genome assemblies like GRCh37 and GRCh38, this skill provides the patterns and best practices needed to streamline complex genomic workflows directly within a Claude-powered development environment.
主要功能
01Sequence Retrieval: Extract genomic, transcript, and protein sequences in JSON, FASTA, or plain text.
02Variant Effect Prediction: Analyze genetic variants and predict functional consequences using VEP.
03Gene & Transcript Lookup: Search by symbol, Ensembl ID, or external identifiers across 250+ species.
04Comparative Genomics: Identify orthologs, paralogs, and evolutionary gene trees across species.
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06Assembly Mapping: Convert coordinates between different genome versions, such as GRCh37 to GRCh38.
使用场景
01Predicting the functional impact and population frequency of clinical genetic variants.
02Automating gene annotation and sequence extraction pipelines for genomic research projects.
03Conducting cross-species evolutionary analysis to identify conserved genetic elements and orthologs.
