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GeneBe API Showcase

This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.

API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.

Documentation & Advanced Usage

Complete API documentation:docs.genebe.net/docs/api/overview/

Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/

Python client for pandas:pypi.org/project/genebe/

Java CLI for VCF files:github.com/pstawinski/genebe-cli

All tools documented at:docs.genebe.net

API Request Examples for Variant: 9-79718839-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=79718839&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 79718839,
      "ref": "C",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "NM_001282748.2",
      "consequences": [
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TLE4",
          "gene_hgnc_id": 11840,
          "hgvs_c": "c.1458C>T",
          "hgvs_p": "p.His486His",
          "transcript": "NM_007005.6",
          "protein_id": "NP_008936.2",
          "transcript_support_level": null,
          "aa_start": 486,
          "aa_end": null,
          "aa_length": 773,
          "cds_start": 1458,
          "cds_end": null,
          "cds_length": 2322,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000376552.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_007005.6"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TLE4",
          "gene_hgnc_id": 11840,
          "hgvs_c": "c.1458C>T",
          "hgvs_p": "p.His486His",
          "transcript": "ENST00000376552.8",
          "protein_id": "ENSP00000365735.2",
          "transcript_support_level": 1,
          "aa_start": 486,
          "aa_end": null,
          "aa_length": 773,
          "cds_start": 1458,
          "cds_end": null,
          "cds_length": 2322,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_007005.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000376552.8"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TLE4",
          "gene_hgnc_id": 11840,
          "hgvs_c": "c.1554C>T",
          "hgvs_p": "p.His518His",
          "transcript": "ENST00000376537.8",
          "protein_id": "ENSP00000365720.4",
          "transcript_support_level": 1,
          "aa_start": 518,
          "aa_end": null,
          "aa_length": 805,
          "cds_start": 1554,
          "cds_end": null,
          "cds_length": 2418,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000376537.8"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TLE4",
          "gene_hgnc_id": 11840,
          "hgvs_c": "c.1251C>T",
          "hgvs_p": "p.His417His",
          "transcript": "ENST00000376544.7",
          "protein_id": "ENSP00000365727.4",
          "transcript_support_level": 1,
          "aa_start": 417,
          "aa_end": null,
          "aa_length": 704,
          "cds_start": 1251,
          "cds_end": null,
          "cds_length": 2115,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000376544.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TLE4",
          "gene_hgnc_id": 11840,
          "hgvs_c": "n.*1280C>T",
          "hgvs_p": null,
          "transcript": "ENST00000470872.5",
          "protein_id": "ENSP00000417245.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000470872.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TLE4",
          "gene_hgnc_id": 11840,
          "hgvs_c": "n.*1280C>T",
          "hgvs_p": null,
          "transcript": "ENST00000470872.5",
          "protein_id": "ENSP00000417245.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000470872.5"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TLE4",
          "gene_hgnc_id": 11840,
          "hgvs_c": "c.1554C>T",
          "hgvs_p": "p.His518His",
          "transcript": "NM_001282748.2",
          "protein_id": "NP_001269677.1",
          "transcript_support_level": null,
          "aa_start": 518,
          "aa_end": null,
          "aa_length": 805,
          "cds_start": 1554,
          "cds_end": null,
          "cds_length": 2418,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001282748.2"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TLE4",
          "gene_hgnc_id": 11840,
          "hgvs_c": "c.1497C>T",
          "hgvs_p": "p.His499His",
          "transcript": "NM_001351541.2",
          "protein_id": "NP_001338470.1",
          "transcript_support_level": null,
          "aa_start": 499,
          "aa_end": null,
          "aa_length": 786,
          "cds_start": 1497,
          "cds_end": null,
          "cds_length": 2361,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001351541.2"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TLE4",
          "gene_hgnc_id": 11840,
          "hgvs_c": "c.1497C>T",
          "hgvs_p": "p.His499His",
          "transcript": "ENST00000965889.1",
          "protein_id": "ENSP00000635948.1",
          "transcript_support_level": null,
          "aa_start": 499,
          "aa_end": null,
          "aa_length": 786,
          "cds_start": 1497,
          "cds_end": null,
          "cds_length": 2361,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965889.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TLE4",
          "gene_hgnc_id": 11840,
          "hgvs_c": "c.1461C>T",
          "hgvs_p": "p.His487His",
          "transcript": "NM_001351542.2",
          "protein_id": "NP_001338471.1",
          "transcript_support_level": null,
          "aa_start": 487,
          "aa_end": null,
          "aa_length": 774,
          "cds_start": 1461,
          "cds_end": null,
          "cds_length": 2325,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001351542.2"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TLE4",
          "gene_hgnc_id": 11840,
          "hgvs_c": "c.1455C>T",
          "hgvs_p": "p.His485His",
          "transcript": "NM_001351543.2",
          "protein_id": "NP_001338472.1",
          "transcript_support_level": null,
          "aa_start": 485,
          "aa_end": null,
          "aa_length": 772,
          "cds_start": 1455,
          "cds_end": null,
          "cds_length": 2319,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001351543.2"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TLE4",
          "gene_hgnc_id": 11840,
          "hgvs_c": "c.1455C>T",
          "hgvs_p": "p.His485His",
          "transcript": "ENST00000706431.1",
          "protein_id": "ENSP00000516378.1",
          "transcript_support_level": null,
          "aa_start": 485,
          "aa_end": null,
          "aa_length": 772,
          "cds_start": 1455,
          "cds_end": null,
          "cds_length": 2319,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000706431.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TLE4",
          "gene_hgnc_id": 11840,
          "hgvs_c": "c.1452C>T",
          "hgvs_p": "p.His484His",
          "transcript": "NM_001351546.2",
          "protein_id": "NP_001338475.1",
          "transcript_support_level": null,
          "aa_start": 484,
          "aa_end": null,
          "aa_length": 771,
          "cds_start": 1452,
          "cds_end": null,
          "cds_length": 2316,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001351546.2"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TLE4",
          "gene_hgnc_id": 11840,
          "hgvs_c": "c.1407C>T",
          "hgvs_p": "p.His469His",
          "transcript": "NM_001351547.2",
          "protein_id": "NP_001338476.1",
          "transcript_support_level": null,
          "aa_start": 469,
          "aa_end": null,
          "aa_length": 756,
          "cds_start": 1407,
          "cds_end": null,
          "cds_length": 2271,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001351547.2"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TLE4",
          "gene_hgnc_id": 11840,
          "hgvs_c": "c.1404C>T",
          "hgvs_p": "p.His468His",
          "transcript": "ENST00000965887.1",
          "protein_id": "ENSP00000635946.1",
          "transcript_support_level": null,
          "aa_start": 468,
          "aa_end": null,
          "aa_length": 755,
          "cds_start": 1404,
          "cds_end": null,
          "cds_length": 2268,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965887.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TLE4",
          "gene_hgnc_id": 11840,
          "hgvs_c": "c.1398C>T",
          "hgvs_p": "p.His466His",
          "transcript": "NM_001351550.2",
          "protein_id": "NP_001338479.1",
          "transcript_support_level": null,
          "aa_start": 466,
          "aa_end": null,
          "aa_length": 753,
          "cds_start": 1398,
          "cds_end": null,
          "cds_length": 2262,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001351550.2"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TLE4",
          "gene_hgnc_id": 11840,
          "hgvs_c": "c.1395C>T",
          "hgvs_p": "p.His465His",
          "transcript": "NM_001351552.2",
          "protein_id": "NP_001338481.1",
          "transcript_support_level": null,
          "aa_start": 465,
          "aa_end": null,
          "aa_length": 752,
          "cds_start": 1395,
          "cds_end": null,
          "cds_length": 2259,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001351552.2"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TLE4",
          "gene_hgnc_id": 11840,
          "hgvs_c": "c.1395C>T",
          "hgvs_p": "p.His465His",
          "transcript": "ENST00000965888.1",
          "protein_id": "ENSP00000635947.1",
          "transcript_support_level": null,
          "aa_start": 465,
          "aa_end": null,
          "aa_length": 752,
          "cds_start": 1395,
          "cds_end": null,
          "cds_length": 2259,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965888.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TLE4",
          "gene_hgnc_id": 11840,
          "hgvs_c": "c.1389C>T",
          "hgvs_p": "p.His463His",
          "transcript": "NM_001351556.2",
          "protein_id": "NP_001338485.1",
          "transcript_support_level": null,
          "aa_start": 463,
          "aa_end": null,
          "aa_length": 750,
          "cds_start": 1389,
          "cds_end": null,
          "cds_length": 2253,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001351556.2"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TLE4",
          "gene_hgnc_id": 11840,
          "hgvs_c": "c.1386C>T",
          "hgvs_p": "p.His462His",
          "transcript": "NM_001351558.2",
          "protein_id": "NP_001338487.1",
          "transcript_support_level": null,
          "aa_start": 462,
          "aa_end": null,
          "aa_length": 749,
          "cds_start": 1386,
          "cds_end": null,
          "cds_length": 2250,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
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          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000478290.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TLE4",
          "gene_hgnc_id": 11840,
          "hgvs_c": "n.2417C>T",
          "hgvs_p": null,
          "transcript": "NR_104239.2",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "NR_104239.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TLE4",
          "gene_hgnc_id": 11840,
          "hgvs_c": "n.*808C>T",
          "hgvs_p": null,
          "transcript": "ENST00000462803.5",
          "protein_id": "ENSP00000417715.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000462803.5"
        }
      ],
      "gene_symbol": "TLE4",
      "gene_hgnc_id": 11840,
      "dbsnp": "rs61742686",
      "frequency_reference_population": 0.0013846451,
      "hom_count_reference_population": 27,
      "allele_count_reference_population": 2235,
      "gnomad_exomes_af": 0.000738087,
      "gnomad_genomes_af": 0.00759307,
      "gnomad_exomes_ac": 1079,
      "gnomad_genomes_ac": 1156,
      "gnomad_exomes_homalt": 12,
      "gnomad_genomes_homalt": 15,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.35899999737739563,
      "computational_prediction_selected": "Uncertain_significance",
      "computational_source_selected": "REVEL",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.359,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.36,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.001,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -17,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP6_Very_Strong,BP7,BS1,BS2",
      "acmg_by_gene": [
        {
          "score": -17,
          "benign_score": 17,
          "pathogenic_score": 0,
          "criteria": [
            "BP6_Very_Strong",
            "BP7",
            "BS1",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "NM_001282748.2",
          "gene_symbol": "TLE4",
          "hgnc_id": 11840,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.1554C>T",
          "hgvs_p": "p.His518His"
        }
      ],
      "clinvar_disease": "not provided",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "B:2",
      "phenotype_combined": "not provided",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
    }
  ],
  "message": null
}