On Friday 11th March 2022, the VarSome Stable API (stable-api.varsome.com) will be updated from version 10.2.6 to version 11.1.6 with data frozen as of the 4th February 2022.
This version will be available for testing on the Staging API (staging-api.varsome.com) from Friday 11th February 2022.
The most recent version, used by VarSome itself, is always available at api.varsome.com.
We strongly encourage you to test your own use of the VarSome API against the Staging API over the next four weeks, and let us know if you encounter any unexpected difficulties.
Functional Changes
There have been two releases of the VarSome platform in the intervening time, please see the full release notes here for each of these releases
Highlights in this API update include:
- Many refinements to the ACMG classifier
- Improved reporting of drugs and therapies in the AMP classifier
Data Format Changes
The “Saphetor Known Pathogenic” database which contains all clinically reported variants (see Clinical Evidence) has some additional fields:
- transcript: the transcript picked by the ACMG classifier to classify this variant
- gene_symbol: the gene symbol for that transcript
- codon: the number of the affected codon within that transcript
- hgvs: the HGVS notation for the variant, where applicable, without the gene name
- disease_name: the list of conditions reported by the source database for this variant
Database Updates
The following databases have updated contents which will remain frozen till the next Stable API release.
Data Source |
Current Version |
New Version |
Comment |
UNIPROT UniProt Regions |
13-Jul-2021 |
7 Dec 2021 |
|
NCBI ClinVar CNVs |
07-Oct 2021 |
07-Dec-2021 |
|
Sanger DECIPHER |
07-Oct-2021 |
11-Nov-2021 |
|
RefSeq Transcripts |
208 |
209 |
|
Ensembl Transcripts |
104 |
105 |
|
NCBI ClinVar |
07-Oct-2021 |
07-Dec-2021 |
|
UniProt Variants |
13-Jul-2021 |
09-Dec-2021 |
|
WUSTL CIViC |
07-Oct-2021 |
10-Dec-2021 |
|
NIH GDC |
13-Oct-2021 |
13-Dec-2021 |
|
Saphetor Known Pathogenic |
01-Nov-2021 |
04-Feb-2021 |
Contains additional fields for each variant entry. |
PharmGKB |
16-Sep-2021 |
11-Nov-2021 |
|
ACMG Annotation |
10.2.6 |
11.1.6 |
|
AMP Annotation |
10.2.6 |
11.1.6 |
|
CNV Annotation |
10.2.6 |
11.1.6 |
|
JAX CKB |
20-Sep-2021 |
15-Dec-2021 |
|
CGD |
15-Jun-2021 |
11-Nov-2021 |
|
AACT |
07-Sep-2021 |
13-Dec-2021 |
|
GHR Genes |
20-Oct-2021 |
10-Dec-2021 |
|
Genomics England PanelAPP |
13-Oct-2021 |
10-Dec-2021 |
|
Fusion GDB |
21-Sep-2021 |
19-Nov-2021 |
|
ClinGen Gene |
01-Jul-2021 |
20-Dec-2021 |
|
GWAS |
13-Oct-2021 |
10-Dec-2021 |
Further Information and Support
An overview of the VarSome API is available here with more detailed information here.
Please contact us at the usual address support@varsome.com should you require any additional information or run into any major issues. As ever we look forward to your feedback and suggestions to improve our platform.
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