Platform Updates VarSome API

VarSome API Update - V 11.1.6

By Richard Meyer on February, 11 2022

Stay up to date

Back to main Blog
Richard Meyer

CTO

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
(Stable)

New Version
(Staging)

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.

Submit a Comment

Stay up to date