Platform Updates VarSome API

VarSome API Update - V 11.2.8

By Richard Meyer on May, 11 2022

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Richard Meyer

CTO

On the 10th of June 2022, we will update the VarSome Stable API (stable-api.varsome.com) from version 11.1.6  to version 11.2.12  with data frozen as of the 13th of May 2022. This version has been successfully used in production for over three months, and includes many improvements.

The most recent version, used by VarSome itself, is always available at api.varsome.com.

Functional Changes

The major changes in this version are:

  • CNVs: the user can provide phenotypes that will be used to improve the variant classification.
  • ACMG classification: improved accuracy & closer adherence to standards.
  • AMP Drug rule: major improvements to how Tier I and Tier II drugs are evaluated. As part of this we have ‘normalized’ drug names so that they are as consistent as possible between various databases.

Please refer to the following release notes for more detailed information: 

Database Updates

The following databases have been updated, the JSON schema changes below are should have minimal impact:

Databases

Current

New Release

Comment

AACT

13 Dec 2021

17 Apr 2022

Additional JSON data keys for 'interventions' and 'last_update_posted_date'.

ACMG, CNV & AMP Classifiers

11.1.6

11.2.8

See release notes for detailed list of changes.

Cancer Gene Census

v94

v95

 

CBioPortal

17 Sep 2021

23 Mar 2022

 

CGD

11 Nov 2021

15 Mar 2022

 

ClinGen Gene

20 Dec 2021

23 Feb 2022

 

Genomics England PanelApp

10 Dec 2021

17 Apr 2022

 

GHR Genes

10 Dec 2021

15 Mar 2022

 

GWAS

10 Dec 2021

17 Apr 2022

 

Jackson Labs CKB

15 Dec 2021

18 Apr 2022

 

NCBI ClinVar

Variants & CNVs

7 Dec 2021

14 Mar 2022

 

NCBI dbVar

30 Jun 2021

23 Feb 2022

 

PharmGKB

11 Nov 2021

15 Mar 2022

Drug names in the 'normalized_drugs' key are now consistent with other databases.

RefSeq transcripts

209

210

 

Sanger COSMIC

v94

v95

 

Sanger DECIPHER

11 Nov 2021

17 Apr 2022

 

Saphetor Clinically Reported Variants

4 Feb 2022

12 May 2022

 

UniProt Regions

7 Dec 2021

15 Mar 2022

 

UniProt Variants

9 Dec 2021

15 Mar 2022

 

WUSTL CIViC

10 Dec 2021

17 Apr 2022

 

 

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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