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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: 3-12585761-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=12585761&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 12585761,
      "ref": "C",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "ENST00000251849.9",
      "consequences": [
        {
          "aa_ref": "D",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.1456G>C",
          "hgvs_p": "p.Asp486His",
          "transcript": "NM_002880.4",
          "protein_id": "NP_002871.1",
          "transcript_support_level": null,
          "aa_start": 486,
          "aa_end": null,
          "aa_length": 648,
          "cds_start": 1456,
          "cds_end": null,
          "cds_length": 1947,
          "cdna_start": 1787,
          "cdna_end": null,
          "cdna_length": 3191,
          "mane_select": "ENST00000251849.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "H",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.1456G>C",
          "hgvs_p": "p.Asp486His",
          "transcript": "ENST00000251849.9",
          "protein_id": "ENSP00000251849.4",
          "transcript_support_level": 1,
          "aa_start": 486,
          "aa_end": null,
          "aa_length": 648,
          "cds_start": 1456,
          "cds_end": null,
          "cds_length": 1947,
          "cdna_start": 1787,
          "cdna_end": null,
          "cdna_length": 3191,
          "mane_select": "NM_002880.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.1516G>C",
          "hgvs_p": "p.Asp506His",
          "transcript": "NM_001354689.3",
          "protein_id": "NP_001341618.1",
          "transcript_support_level": null,
          "aa_start": 506,
          "aa_end": null,
          "aa_length": 668,
          "cds_start": 1516,
          "cds_end": null,
          "cds_length": 2007,
          "cdna_start": 1847,
          "cdna_end": null,
          "cdna_length": 3251,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.1516G>C",
          "hgvs_p": "p.Asp506His",
          "transcript": "ENST00000442415.7",
          "protein_id": "ENSP00000401888.2",
          "transcript_support_level": 5,
          "aa_start": 506,
          "aa_end": null,
          "aa_length": 668,
          "cds_start": 1516,
          "cds_end": null,
          "cds_length": 2007,
          "cdna_start": 1847,
          "cdna_end": null,
          "cdna_length": 3251,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.1456G>C",
          "hgvs_p": "p.Asp486His",
          "transcript": "NM_001354690.3",
          "protein_id": "NP_001341619.1",
          "transcript_support_level": null,
          "aa_start": 486,
          "aa_end": null,
          "aa_length": 648,
          "cds_start": 1456,
          "cds_end": null,
          "cds_length": 1947,
          "cdna_start": 1622,
          "cdna_end": null,
          "cdna_length": 3026,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.1456G>C",
          "hgvs_p": "p.Asp486His",
          "transcript": "ENST00000685653.1",
          "protein_id": "ENSP00000509968.1",
          "transcript_support_level": null,
          "aa_start": 486,
          "aa_end": null,
          "aa_length": 648,
          "cds_start": 1456,
          "cds_end": null,
          "cds_length": 1947,
          "cdna_start": 3161,
          "cdna_end": null,
          "cdna_length": 4402,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.1456G>C",
          "hgvs_p": "p.Asp486His",
          "transcript": "ENST00000691899.1",
          "protein_id": "ENSP00000508763.1",
          "transcript_support_level": null,
          "aa_start": 486,
          "aa_end": null,
          "aa_length": 648,
          "cds_start": 1456,
          "cds_end": null,
          "cds_length": 1947,
          "cdna_start": 1622,
          "cdna_end": null,
          "cdna_length": 2983,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.1444G>C",
          "hgvs_p": "p.Asp482His",
          "transcript": "ENST00000690460.1",
          "protein_id": "ENSP00000509106.1",
          "transcript_support_level": null,
          "aa_start": 482,
          "aa_end": null,
          "aa_length": 644,
          "cds_start": 1444,
          "cds_end": null,
          "cds_length": 1935,
          "cdna_start": 1775,
          "cdna_end": null,
          "cdna_length": 3141,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.1357G>C",
          "hgvs_p": "p.Asp453His",
          "transcript": "NM_001354693.3",
          "protein_id": "NP_001341622.1",
          "transcript_support_level": null,
          "aa_start": 453,
          "aa_end": null,
          "aa_length": 615,
          "cds_start": 1357,
          "cds_end": null,
          "cds_length": 1848,
          "cdna_start": 1688,
          "cdna_end": null,
          "cdna_length": 3092,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.1357G>C",
          "hgvs_p": "p.Asp453His",
          "transcript": "ENST00000685437.1",
          "protein_id": "ENSP00000508794.1",
          "transcript_support_level": null,
          "aa_start": 453,
          "aa_end": null,
          "aa_length": 615,
          "cds_start": 1357,
          "cds_end": null,
          "cds_length": 1848,
          "cdna_start": 1781,
          "cdna_end": null,
          "cdna_length": 2866,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.1357G>C",
          "hgvs_p": "p.Asp453His",
          "transcript": "ENST00000688543.1",
          "protein_id": "ENSP00000509612.1",
          "transcript_support_level": null,
          "aa_start": 453,
          "aa_end": null,
          "aa_length": 615,
          "cds_start": 1357,
          "cds_end": null,
          "cds_length": 1848,
          "cdna_start": 1758,
          "cdna_end": null,
          "cdna_length": 4662,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.1357G>C",
          "hgvs_p": "p.Asp453His",
          "transcript": "ENST00000692093.1",
          "protein_id": "ENSP00000509669.1",
          "transcript_support_level": null,
          "aa_start": 453,
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          "aa_length": 615,
          "cds_start": 1357,
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          "cdna_start": 1790,
          "cdna_end": null,
          "cdna_length": 3187,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.1345G>C",
          "hgvs_p": "p.Asp449His",
          "transcript": "ENST00000687923.1",
          "protein_id": "ENSP00000510255.1",
          "transcript_support_level": null,
          "aa_start": 449,
          "aa_end": null,
          "aa_length": 611,
          "cds_start": 1345,
          "cds_end": null,
          "cds_length": 1836,
          "cdna_start": 1670,
          "cdna_end": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.1345G>C",
          "hgvs_p": "p.Asp449His",
          "transcript": "ENST00000690397.1",
          "protein_id": "ENSP00000508730.1",
          "transcript_support_level": null,
          "aa_start": 449,
          "aa_end": null,
          "aa_length": 611,
          "cds_start": 1345,
          "cds_end": null,
          "cds_length": 1836,
          "cdna_start": 1676,
          "cdna_end": null,
          "cdna_length": 3037,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.1279G>C",
          "hgvs_p": "p.Asp427His",
          "transcript": "ENST00000689389.1",
          "protein_id": "ENSP00000510213.1",
          "transcript_support_level": null,
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          "cds_length": 1770,
          "cdna_start": 1613,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.1273G>C",
          "hgvs_p": "p.Asp425His",
          "transcript": "NM_001354694.3",
          "protein_id": "NP_001341623.1",
          "transcript_support_level": null,
          "aa_start": 425,
          "aa_end": null,
          "aa_length": 587,
          "cds_start": 1273,
          "cds_end": null,
          "cds_length": 1764,
          "cdna_start": 1734,
          "cdna_end": null,
          "cdna_length": 3138,
          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.1231G>C",
          "hgvs_p": "p.Asp411His",
          "transcript": "ENST00000693312.1",
          "protein_id": "ENSP00000508686.1",
          "transcript_support_level": null,
          "aa_start": 411,
          "aa_end": null,
          "aa_length": 573,
          "cds_start": 1231,
          "cds_end": null,
          "cds_length": 1722,
          "cdna_start": 1532,
          "cdna_end": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "H",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
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          "exon_count": 17,
          "intron_rank": null,
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          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.1213G>C",
          "hgvs_p": "p.Asp405His",
          "transcript": "NM_001354691.3",
          "protein_id": "NP_001341620.1",
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          "cds_start": 1213,
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          "cds_length": 1704,
          "cdna_start": 1767,
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        },
        {
          "aa_ref": "D",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.1213G>C",
          "hgvs_p": "p.Asp405His",
          "transcript": "NM_001354692.3",
          "protein_id": "NP_001341621.1",
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          "aa_length": 567,
          "cds_start": 1213,
          "cds_end": null,
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          "cdna_start": 1674,
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          "cdna_length": 3078,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "H",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
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          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.1114G>C",
          "hgvs_p": "p.Asp372His",
          "transcript": "NM_001354695.3",
          "protein_id": "NP_001341624.1",
          "transcript_support_level": null,
          "aa_start": 372,
          "aa_end": null,
          "aa_length": 534,
          "cds_start": 1114,
          "cds_end": null,
          "cds_length": 1605,
          "cdna_start": 1575,
          "cdna_end": null,
          "cdna_length": 2979,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.772G>C",
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      "gene_hgnc_id": 9829,
      "dbsnp": "rs80338798",
      "frequency_reference_population": 6.841059e-7,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 1,
      "gnomad_exomes_af": 6.84106e-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": 0.9898566603660583,
      "computational_prediction_selected": "Pathogenic",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.009999999776482582,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.992,
      "revel_prediction": "Pathogenic",
      "alphamissense_score": 0.9999,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.61,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 7.9,
      "phylop100way_prediction": "Pathogenic",
      "spliceai_max_score": 0.01,
      "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": 10,
      "acmg_classification": "Pathogenic",
      "acmg_criteria": "PM1,PM2,PM5,PP3_Strong",
      "acmg_by_gene": [
        {
          "score": 10,
          "benign_score": 0,
          "pathogenic_score": 10,
          "criteria": [
            "PM1",
            "PM2",
            "PM5",
            "PP3_Strong"
          ],
          "verdict": "Pathogenic",
          "transcript": "ENST00000251849.9",
          "gene_symbol": "RAF1",
          "hgnc_id": 9829,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.1456G>C",
          "hgvs_p": "p.Asp486His"
        },
        {
          "score": 6,
          "benign_score": 0,
          "pathogenic_score": 6,
          "criteria": [
            "PM2",
            "PP3_Strong"
          ],
          "verdict": "Likely_pathogenic",
          "transcript": "ENST00000677816.1",
          "gene_symbol": "MKRN2",
          "hgnc_id": 7113,
          "effects": [
            "non_coding_transcript_exon_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "n.*2063C>G",
          "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
}