When you find a variant you are interested in, you will want to thoroughly investigate all current knowledge about it. For each Ensembl release we update our variation databases with the latest public information from a wide range of resources and make summary information available in VEP. We now make it easier to link to fuller details in these resources by providing lists of names used for each variant in each.
When using web VEP, check the ‘Variant Synonyms’ option in the ‘Variants and frequency data’ section to get a column of synonym names and links to other databases in your output:
These links are available to databases including ClinVar, OMIM, PharmGKB and UniProt. Names are matched to input variants based on location and are not allele-specific.
Synonyms are also available through VEP’s REST and command line interfaces. The command line option –var_synonyms can only be used with the VEP cache, for performance reasons.
Synonyms are reported by default in the VEP REST service. To keep the size of response small, only variant names are returned and full URLs should be constructed separately.