FAQs

  • How do I know what the API statuses mean?

  • Why can't I find my case in the API?

    • Please email Genomics England Service desk, your case may be blocked upstream in the GeL Interpretation Pipeline.
  • What does GitVersionControl field represent?

    • Changes to the GeL data models are versioned in GitHub. Details of the models and the associated versions can be found on GitHub here
  • I can see multiple versions of an interpretation request / interpreted genome / clinical report which should I use?

    • It is generally recommended to use the most recent version (the version with the highest number) unless you need to use a specific version.
  • How often will new versions of interpretation request / interpreted genome / clinical reports be generated?

    • Once a case has been approved and passed to the GMC it is unlikely that a new version of the interpretation request or interpreted genome will be generated due to cases that have not yet be processed having priority over reprocessing cases.
    • Clinical Report versions are controlled by GMCs via their actions in the CIP systems.
  • Can we get Cancer results via the API?

    • Yes. If your workspace (LDP/GMC) have had any cancer results, they can be queried from the following URL: api/2/interpretation-request?sample_type=cancer
  • Why does a variant have multiple report events?

    • Multiple report events could arise for various reasons e.g if multiple panels are applied to the family you might get tiering report events for the same variant if there are overlapping genes in the panels applied. We also now tier using “complete” and “incomplete” penetrance modes (depending on clinical review of the pedigree) so you will get “complete" and “incomplete" tiering reportEvents (see the reportEvent penetrance field).