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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: 10-18536170-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=18536170&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 18536170,
      "ref": "G",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "ENST00000324631.13",
      "consequences": [
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNB2",
          "gene_hgnc_id": 1402,
          "hgvs_c": "c.1276G>T",
          "hgvs_p": "p.Ala426Ser",
          "transcript": "NM_201596.3",
          "protein_id": "NP_963890.2",
          "transcript_support_level": null,
          "aa_start": 426,
          "aa_end": null,
          "aa_length": 660,
          "cds_start": 1276,
          "cds_end": null,
          "cds_length": 1983,
          "cdna_start": 1589,
          "cdna_end": null,
          "cdna_length": 6129,
          "mane_select": "ENST00000324631.13",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNB2",
          "gene_hgnc_id": 1402,
          "hgvs_c": "c.1276G>T",
          "hgvs_p": "p.Ala426Ser",
          "transcript": "ENST00000324631.13",
          "protein_id": "ENSP00000320025.8",
          "transcript_support_level": 1,
          "aa_start": 426,
          "aa_end": null,
          "aa_length": 660,
          "cds_start": 1276,
          "cds_end": null,
          "cds_length": 1983,
          "cdna_start": 1589,
          "cdna_end": null,
          "cdna_length": 6129,
          "mane_select": "NM_201596.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNB2",
          "gene_hgnc_id": 1402,
          "hgvs_c": "c.1114G>T",
          "hgvs_p": "p.Ala372Ser",
          "transcript": "NM_201590.3",
          "protein_id": "NP_963884.2",
          "transcript_support_level": null,
          "aa_start": 372,
          "aa_end": null,
          "aa_length": 606,
          "cds_start": 1114,
          "cds_end": null,
          "cds_length": 1821,
          "cdna_start": 1332,
          "cdna_end": null,
          "cdna_length": 5872,
          "mane_select": null,
          "mane_plus": "ENST00000377329.10",
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNB2",
          "gene_hgnc_id": 1402,
          "hgvs_c": "c.1114G>T",
          "hgvs_p": "p.Ala372Ser",
          "transcript": "ENST00000377329.10",
          "protein_id": "ENSP00000366546.4",
          "transcript_support_level": 1,
          "aa_start": 372,
          "aa_end": null,
          "aa_length": 606,
          "cds_start": 1114,
          "cds_end": null,
          "cds_length": 1821,
          "cdna_start": 1332,
          "cdna_end": null,
          "cdna_length": 5872,
          "mane_select": null,
          "mane_plus": "NM_201590.3",
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNB2",
          "gene_hgnc_id": 1402,
          "hgvs_c": "c.1204G>T",
          "hgvs_p": "p.Ala402Ser",
          "transcript": "ENST00000352115.10",
          "protein_id": "ENSP00000344474.6",
          "transcript_support_level": 1,
          "aa_start": 402,
          "aa_end": null,
          "aa_length": 636,
          "cds_start": 1204,
          "cds_end": null,
          "cds_length": 1911,
          "cdna_start": 1204,
          "cdna_end": null,
          "cdna_length": 1911,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNB2",
          "gene_hgnc_id": 1402,
          "hgvs_c": "c.1192G>T",
          "hgvs_p": "p.Ala398Ser",
          "transcript": "ENST00000282343.13",
          "protein_id": "ENSP00000282343.8",
          "transcript_support_level": 1,
          "aa_start": 398,
          "aa_end": null,
          "aa_length": 632,
          "cds_start": 1192,
          "cds_end": null,
          "cds_length": 1899,
          "cdna_start": 1414,
          "cdna_end": null,
          "cdna_length": 3160,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNB2",
          "gene_hgnc_id": 1402,
          "hgvs_c": "c.1132G>T",
          "hgvs_p": "p.Ala378Ser",
          "transcript": "ENST00000377315.6",
          "protein_id": "ENSP00000366532.4",
          "transcript_support_level": 1,
          "aa_start": 378,
          "aa_end": null,
          "aa_length": 612,
          "cds_start": 1132,
          "cds_end": null,
          "cds_length": 1839,
          "cdna_start": 1589,
          "cdna_end": null,
          "cdna_length": 6129,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNB2",
          "gene_hgnc_id": 1402,
          "hgvs_c": "c.1111G>T",
          "hgvs_p": "p.Ala371Ser",
          "transcript": "ENST00000396576.6",
          "protein_id": "ENSP00000379821.2",
          "transcript_support_level": 1,
          "aa_start": 371,
          "aa_end": null,
          "aa_length": 605,
          "cds_start": 1111,
          "cds_end": null,
          "cds_length": 1818,
          "cdna_start": 1612,
          "cdna_end": null,
          "cdna_length": 4464,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNB2",
          "gene_hgnc_id": 1402,
          "hgvs_c": "c.997G>T",
          "hgvs_p": "p.Ala333Ser",
          "transcript": "ENST00000377319.9",
          "protein_id": "ENSP00000366536.3",
          "transcript_support_level": 1,
          "aa_start": 333,
          "aa_end": null,
          "aa_length": 567,
          "cds_start": 997,
          "cds_end": null,
          "cds_length": 1704,
          "cdna_start": 1545,
          "cdna_end": null,
          "cdna_length": 6085,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNB2",
          "gene_hgnc_id": 1402,
          "hgvs_c": "c.526G>T",
          "hgvs_p": "p.Ala176Ser",
          "transcript": "ENST00000377328.5",
          "protein_id": "ENSP00000366545.1",
          "transcript_support_level": 1,
          "aa_start": 176,
          "aa_end": null,
          "aa_length": 410,
          "cds_start": 526,
          "cds_end": null,
          "cds_length": 1233,
          "cdna_start": 526,
          "cdna_end": null,
          "cdna_length": 1233,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "CACNB2",
          "gene_hgnc_id": 1402,
          "hgvs_c": "c.927+1943G>T",
          "hgvs_p": null,
          "transcript": "ENST00000377331.8",
          "protein_id": "ENSP00000366548.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 528,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1589,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1648,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000240291",
          "gene_hgnc_id": 58168,
          "hgvs_c": "n.482+3024C>A",
          "hgvs_p": null,
          "transcript": "ENST00000425669.1",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1028,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNB2",
          "gene_hgnc_id": 1402,
          "hgvs_c": "c.1204G>T",
          "hgvs_p": "p.Ala402Ser",
          "transcript": "NM_201597.3",
          "protein_id": "NP_963891.1",
          "transcript_support_level": null,
          "aa_start": 402,
          "aa_end": null,
          "aa_length": 636,
          "cds_start": 1204,
          "cds_end": null,
          "cds_length": 1911,
          "cdna_start": 1517,
          "cdna_end": null,
          "cdna_length": 6057,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNB2",
          "gene_hgnc_id": 1402,
          "hgvs_c": "c.1192G>T",
          "hgvs_p": "p.Ala398Ser",
          "transcript": "NM_201571.4",
          "protein_id": "NP_963865.2",
          "transcript_support_level": null,
          "aa_start": 398,
          "aa_end": null,
          "aa_length": 632,
          "cds_start": 1192,
          "cds_end": null,
          "cds_length": 1899,
          "cdna_start": 1948,
          "cdna_end": null,
          "cdna_length": 6488,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNB2",
          "gene_hgnc_id": 1402,
          "hgvs_c": "c.1162G>T",
          "hgvs_p": "p.Ala388Ser",
          "transcript": "NM_201593.3",
          "protein_id": "NP_963887.2",
          "transcript_support_level": null,
          "aa_start": 388,
          "aa_end": null,
          "aa_length": 622,
          "cds_start": 1162,
          "cds_end": null,
          "cds_length": 1869,
          "cdna_start": 1475,
          "cdna_end": null,
          "cdna_length": 6015,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNB2",
          "gene_hgnc_id": 1402,
          "hgvs_c": "c.1132G>T",
          "hgvs_p": "p.Ala378Ser",
          "transcript": "NM_201570.3",
          "protein_id": "NP_963864.1",
          "transcript_support_level": null,
          "aa_start": 378,
          "aa_end": null,
          "aa_length": 612,
          "cds_start": 1132,
          "cds_end": null,
          "cds_length": 1839,
          "cdna_start": 1589,
          "cdna_end": null,
          "cdna_length": 6129,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNB2",
          "gene_hgnc_id": 1402,
          "hgvs_c": "c.1120G>T",
          "hgvs_p": "p.Ala374Ser",
          "transcript": "NM_201572.4",
          "protein_id": "NP_963866.2",
          "transcript_support_level": null,
          "aa_start": 374,
          "aa_end": null,
          "aa_length": 608,
          "cds_start": 1120,
          "cds_end": null,
          "cds_length": 1827,
          "cdna_start": 1876,
          "cdna_end": null,
          "cdna_length": 6416,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNB2",
          "gene_hgnc_id": 1402,
          "hgvs_c": "c.1120G>T",
          "hgvs_p": "p.Ala374Ser",
          "transcript": "ENST00000645287.2",
          "protein_id": "ENSP00000496203.1",
          "transcript_support_level": null,
          "aa_start": 374,
          "aa_end": null,
          "aa_length": 608,
          "cds_start": 1120,
          "cds_end": null,
          "cds_length": 1827,
          "cdna_start": 1564,
          "cdna_end": null,
          "cdna_length": 6104,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNB2",
          "gene_hgnc_id": 1402,
          "hgvs_c": "c.1111G>T",
          "hgvs_p": "p.Ala371Ser",
          "transcript": "NM_000724.4",
          "protein_id": "NP_000715.2",
          "transcript_support_level": null,
          "aa_start": 371,
          "aa_end": null,
          "aa_length": 605,
          "cds_start": 1111,
          "cds_end": null,
          "cds_length": 1818,
          "cdna_start": 1659,
          "cdna_end": null,
          "cdna_length": 6199,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNB2",
          "gene_hgnc_id": 1402,
          "hgvs_c": "c.1096G>T",
          "hgvs_p": "p.Ala366Ser",
          "transcript": "ENST00000652391.1",
          "protein_id": "ENSP00000498938.1",
          "transcript_support_level": null,
          "aa_start": 366,
          "aa_end": null,
          "aa_length": 600,
          "cds_start": 1096,
          "cds_end": null,
          "cds_length": 1803,
          "cdna_start": 1243,
          "cdna_end": null,
          "cdna_length": 2501,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNB2",
          "gene_hgnc_id": 1402,
          "hgvs_c": "c.1078G>T",
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CACNB2-AS1",
          "gene_hgnc_id": 58168,
          "hgvs_c": "n.83+3024C>A",
          "hgvs_p": null,
          "transcript": "XR_007062076.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5557,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "CACNB2",
      "gene_hgnc_id": 1402,
      "dbsnp": "rs1336353571",
      "frequency_reference_population": 6.9336875e-7,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 1,
      "gnomad_exomes_af": 6.93369e-7,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 1,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.8276745080947876,
      "computational_prediction_selected": "Pathogenic",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.477,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": 0.1316,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.08,
      "bayesdelnoaf_prediction": "Uncertain_significance",
      "phylop100way_score": 7.987,
      "phylop100way_prediction": "Pathogenic",
      "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": 3,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,PP3",
      "acmg_by_gene": [
        {
          "score": 3,
          "benign_score": 0,
          "pathogenic_score": 3,
          "criteria": [
            "PM2",
            "PP3"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000324631.13",
          "gene_symbol": "CACNB2",
          "hgnc_id": 1402,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD,Unknown",
          "hgvs_c": "c.1276G>T",
          "hgvs_p": "p.Ala426Ser"
        },
        {
          "score": 3,
          "benign_score": 0,
          "pathogenic_score": 3,
          "criteria": [
            "PM2",
            "PP3"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000425669.1",
          "gene_symbol": "ENSG00000240291",
          "hgnc_id": 58168,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.482+3024C>A",
          "hgvs_p": null
        },
        {
          "score": 3,
          "benign_score": 0,
          "pathogenic_score": 3,
          "criteria": [
            "PM2",
            "PP3"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "XR_007062076.1",
          "gene_symbol": "CACNB2-AS1",
          "hgnc_id": 58168,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.83+3024C>A",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}