Available parameters and response documentation is available here

GET /lookup/15-73027478-T-C?add-ACMG-annotation=1&override_transcript=ENST00000542334
HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json ;utf-8
ETag: "6126d618eaa1ebb4730c176e2f797974f2162b94bbd0cab60cef33b3c6637989"
Vary: Accept

{
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              "ClinVar",
              "CGD"
            ],
            "pub_med_id": 12016587
          },
          {
            "referenced_by": [
              "gene2phenotype",
              "GenCC",
              "PanelApp",
              "CGD"
            ],
            "pub_med_id": 11381270
          },
          {
            "referenced_by": [
              "GenCC",
              "CGD"
            ],
            "pub_med_id": 7711739
          },
          {
            "referenced_by": [
              "GenCC"
            ],
            "pub_med_id": 1577705
          },
          {
            "referenced_by": [
              "GenCC"
            ],
            "pub_med_id": 251008
          }
        ],
        "gene_symbol": "BBS4",
        "gene_id": 1959
      }
    ]
  },
  "uniprot_variants": [
    {
      "version": "01-Apr-2024",
      "items": [
        {
          "annotation_id": "VAR_017054",
          "protein_id": "H3BU58",
          "proteinname": "Bardet-Biedl syndrome 4 (Fragment)",
          "somaticstatus": "False",
          "frequency": null,
          "gene": "BBS4",
          "clinicalsignificances": [
            "Benign",
            "Polymorphism"
          ],
          "transcripts": [
            "ENST00000566197"
          ],
          "association": [
            {
              "disease": "Bardet-Biedl syndrome ",
              "disease_description": null,
              "disease_symbol": null,
              "disease_alt_symbol": null,
              "evidences": {
                "pub_med_references": [
                  20301537,
                  28359099
                ],
                "cosmic_study": null
              }
            },
            {
              "disease": "Bardet-Biedl syndrome 1 ",
              "disease_description": null,
              "disease_symbol": null,
              "disease_alt_symbol": null,
              "evidences": {
                "pub_med_references": [
                  20301537,
                  28359099
                ],
                "cosmic_study": null
              }
            },
            {
              "disease": "Bardet-Biedl syndrome 4 ",
              "disease_description": null,
              "disease_symbol": null,
              "disease_alt_symbol": null,
              "evidences": {
                "pub_med_references": [
                  20301537,
                  28359099
                ],
                "cosmic_study": null
              }
            }
          ],
          "siftscore": null,
          "siftprediction": null,
          "polyphenscore": null,
          "polyphenprediction": null,
          "evidences": {
            "pub_med_references": [
              15666242,
              15770229
            ],
            "cosmic_study": []
          },
          "xrefs": {
            "cosmicmutationid": [],
            "clinvaraccession": []
          },
          "variant_type": "Polymorphism",
          "disease": "Bardet-Biedl syndrome ",
          "disease_symbol": null,
          "disease_alt_symbol": null,
          "bed_comments": null,
          "pub_med_references": [
            15666242,
            15770229
          ]
        }
      ]
    }
  ],
  "saphetor_known_pathogenicity": [
    {
      "version": "30-Apr-2024",
      "items": [
        {
          "annotations": {
            "NCBI ClinVar2": [
              {
                "functions": [
                  "coding"
                ],
                "coding_impact": "missense",
                "acmg_confirmed": true,
                "acmg_class": "Benign",
                "acmg_reannotated": "Benign",
                "source": "NCBI ClinVar2",
                "codon": 354,
                "gene_symbol": "BBS4",
                "hgvs": "I354T",
                "transcript": "NM_033028.5",
                "submission_count": 10,
                "review_stars": 2,
                "accession_count": 5,
                "publication_count": 1,
                "clinical_significance": [
                  "benign"
                ],
                "pub_med_references": [
                  12016587
                ],
                "disease_name": [
                  "Allhighlypenetrant",
                  "Bardet-Biedl Syndrome",
                  "Bardet-Biedl Syndrome 1",
                  "Bardet-Biedl Syndrome 4",
                  "None Provided"
                ]
              }
            ],
            "UNIPROT UniProt Variants": [
              {
                "functions": [
                  "coding"
                ],
                "coding_impact": "missense",
                "acmg_confirmed": true,
                "acmg_class": "Benign",
                "acmg_reannotated": "Benign",
                "source": "UNIPROT UniProt Variants",
                "codon": 354,
                "gene_symbol": "BBS4",
                "hgvs": "I354T",
                "transcript": "NM_033028.5",
                "pub_med_references": [
                  15666242,
                  15770229
                ],
                "disease_name": [
                  "Bardet-Biedl syndrome",
                  "Bardet-Biedl syndrome 1",
                  "Bardet-Biedl syndrome 4"
                ],
                "annotation_id": "VAR_017054"
              }
            ]
          }
        }
      ]
    }
  ],
  "acmg_annotation": {
    "version_name": "11.15.0",
    "gene_symbol": "BBS4",
    "transcript": "ENST00000542334.1",
    "transcript_reason": "user-selected",
    "coding_impact": "missense",
    "blosum_score": -3,
    "verdict": {
      "ACMG_rules": {
        "benign_score": 20,
        "benign_subscore": "Benign",
        "clinical_score": 1.23,
        "pathogenic_score": 0,
        "pathogenic_subscore": "Uncertain Significance",
        "total_score": -20,
        "verdict": "Benign"
      },
      "classifications": [
        "BA1",
        "BP6_Very Strong",
        "BP4_Strong"
      ]
    },
    "classifications": [
      {
        "name": "BA1",
        "met_criteria": true,
        "user_explain": [
          "GnomAD exomes allele frequency = 0.573 is greater than 0.05 threshold, good gnomAD exomes coverage = 75.8."
        ]
      },
      {
        "name": "BP6",
        "met_criteria": true,
        "user_explain": [
          "Combined evidence strength is Very Strong (score = 9).",
          "Very Strong: ClinVar classifies this variant as Benign, 2 stars (reviewed Jan '24, 10 submissions of which 2 are from high confidence submitters), citing %%PUBMED:12016587%%.",
          "Supporting: UniProt Variants classifies this variant as Benign, citing 3 articles (%%PUBMED:15770229%%, %%PUBMED:15666242%% and %%PUBMED:14702039%%)."
        ],
        "strength": "Very Strong"
      },
      {
        "name": "BP4",
        "met_criteria": true,
        "user_explain": [
          "MetaRNN = 0.00000207 is less than 0.00692 ⇒ very strong benign."
        ],
        "strength": "Strong"
      }
    ],
    "gene_id": 1959,
    "sample_findings": {
      "phenotypes": "No matching phenotype found for gene BBS4 which is associated with Bardet-Biedl Syndrome, Bardet-Biedl Syndrome 4, Bardet-Biedl Syndrome 4 615982, Bardet-Biedl Syndrome 4, 209900 and 8 more, according to CGD, GenCC, Mondo, PanelApp and gene2phenotype.",
      "mode_of_inheritance": "AR, based on gene information from CGD, GenCC, Mondo, PanelApp and gene2phenotype."
    }
  },
  "phylop100way": [
    {
      "version": "13-Apr-2021",
      "conservation_score": [
        "-0.245"
      ]
    }
  ],
  "maxentscan": null
}