Biomedical Term Service
Cafe Variome Biomedical Term Service (CV-BTS or BTS) is a web API service that provides various functionalities related to biomedical terms, including:
Autocomplete for terms
Parent-child traversal for terms (expansion)
Mapping between term systems
Semantic similarity between terms
License and disclaimer
CV-BTS is licensed under the MIT License. You should have received a copy of the MIT License along with this program. If not, see MIT License or below:
The data being downloaded or used by CV-BTS are not generated, validated or distributed in any form by Cafe Variome. They should be downloaded from the respective sources, under their own licenses and terms of use. Their authors do not endorse or support CV-BTS in any way. When downloading and using the data, ensure that you comply with the terms of use of the respective data sources and the local laws. For questions regarding the data, please contact the respective data sources.
Features and roadmap
The currently implemented features are:
Downloading and parsing of biomedical term sets
HPO
OMIM
NCIT
ORDO (Orphanet)
SNOMED-CT, SNOMED UK Edition, SNOMED UK Drug Extension, SNOMED UK Clinical Extension
HGNC symbols and IDs
Reactome Pathways
Auto-completion of terms
Ontology tree expansion search
Semantic similarity search
GraphQL support on querying all data
A CLI to manage the system
Prometheus metrics support
The planned features are:
Adding more term sets:
NCBI
Ensembl