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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: 2-178540115-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178540115&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 178540115,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_001267550.2",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 351,
          "exon_rank_end": null,
          "exon_count": 363,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.98051G>A",
          "hgvs_p": "p.Gly32684Asp",
          "transcript": "NM_001267550.2",
          "protein_id": "NP_001254479.2",
          "transcript_support_level": null,
          "aa_start": 32684,
          "aa_end": null,
          "aa_length": 35991,
          "cds_start": 98051,
          "cds_end": null,
          "cds_length": 107976,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000589042.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001267550.2"
        },
        {
          "aa_ref": "G",
          "aa_alt": "D",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 351,
          "exon_rank_end": null,
          "exon_count": 363,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.98051G>A",
          "hgvs_p": "p.Gly32684Asp",
          "transcript": "ENST00000589042.5",
          "protein_id": "ENSP00000467141.1",
          "transcript_support_level": 5,
          "aa_start": 32684,
          "aa_end": null,
          "aa_length": 35991,
          "cds_start": 98051,
          "cds_end": null,
          "cds_length": 107976,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001267550.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000589042.5"
        },
        {
          "aa_ref": "G",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 349,
          "exon_rank_end": null,
          "exon_count": 361,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.97895G>A",
          "hgvs_p": "p.Gly32632Asp",
          "transcript": "ENST00000446966.2",
          "protein_id": "ENSP00000408004.2",
          "transcript_support_level": 1,
          "aa_start": 32632,
          "aa_end": null,
          "aa_length": 35939,
          "cds_start": 97895,
          "cds_end": null,
          "cds_length": 107820,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000446966.2"
        },
        {
          "aa_ref": "G",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 349,
          "exon_rank_end": null,
          "exon_count": 361,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.97775G>A",
          "hgvs_p": "p.Gly32592Asp",
          "transcript": "ENST00000436599.2",
          "protein_id": "ENSP00000405517.2",
          "transcript_support_level": 1,
          "aa_start": 32592,
          "aa_end": null,
          "aa_length": 35899,
          "cds_start": 97775,
          "cds_end": null,
          "cds_length": 107700,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000436599.2"
        },
        {
          "aa_ref": "G",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 344,
          "exon_rank_end": null,
          "exon_count": 356,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.97493G>A",
          "hgvs_p": "p.Gly32498Asp",
          "transcript": "ENST00000426232.6",
          "protein_id": "ENSP00000392336.2",
          "transcript_support_level": 1,
          "aa_start": 32498,
          "aa_end": null,
          "aa_length": 35805,
          "cds_start": 97493,
          "cds_end": null,
          "cds_length": 107418,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000426232.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTN-AS1",
          "gene_hgnc_id": 44124,
          "hgvs_c": "n.1849C>T",
          "hgvs_p": null,
          "transcript": "ENST00000419746.5",
          "protein_id": null,
          "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": "pseudogene",
          "feature": "ENST00000419746.5"
        },
        {
          "aa_ref": "G",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 353,
          "exon_rank_end": null,
          "exon_count": 365,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.98051G>A",
          "hgvs_p": "p.Gly32684Asp",
          "transcript": "ENST00000412264.2",
          "protein_id": "ENSP00000394672.2",
          "transcript_support_level": 3,
          "aa_start": 32684,
          "aa_end": null,
          "aa_length": 35991,
          "cds_start": 98051,
          "cds_end": null,
          "cds_length": 107976,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000412264.2"
        },
        {
          "aa_ref": "G",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 350,
          "exon_rank_end": null,
          "exon_count": 362,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.97967G>A",
          "hgvs_p": "p.Gly32656Asp",
          "transcript": "ENST00000425332.3",
          "protein_id": "ENSP00000396805.3",
          "transcript_support_level": 5,
          "aa_start": 32656,
          "aa_end": null,
          "aa_length": 35963,
          "cds_start": 97967,
          "cds_end": null,
          "cds_length": 107892,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000425332.3"
        },
        {
          "aa_ref": "G",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 348,
          "exon_rank_end": null,
          "exon_count": 360,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.97637G>A",
          "hgvs_p": "p.Gly32546Asp",
          "transcript": "ENST00000715174.1",
          "protein_id": "ENSP00000520370.1",
          "transcript_support_level": null,
          "aa_start": 32546,
          "aa_end": null,
          "aa_length": 35853,
          "cds_start": 97637,
          "cds_end": null,
          "cds_length": 107562,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000715174.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 301,
          "exon_rank_end": null,
          "exon_count": 313,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.93128G>A",
          "hgvs_p": "p.Gly31043Asp",
          "transcript": "NM_001256850.1",
          "protein_id": "NP_001243779.1",
          "transcript_support_level": null,
          "aa_start": 31043,
          "aa_end": null,
          "aa_length": 34350,
          "cds_start": 93128,
          "cds_end": null,
          "cds_length": 103053,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001256850.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 301,
          "exon_rank_end": null,
          "exon_count": 313,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.93128G>A",
          "hgvs_p": "p.Gly31043Asp",
          "transcript": "ENST00000591111.5",
          "protein_id": "ENSP00000465570.1",
          "transcript_support_level": 5,
          "aa_start": 31043,
          "aa_end": null,
          "aa_length": 34350,
          "cds_start": 93128,
          "cds_end": null,
          "cds_length": 103053,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000591111.5"
        },
        {
          "aa_ref": "G",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 300,
          "exon_rank_end": null,
          "exon_count": 312,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.90347G>A",
          "hgvs_p": "p.Gly30116Asp",
          "transcript": "NM_133378.4",
          "protein_id": "NP_596869.4",
          "transcript_support_level": null,
          "aa_start": 30116,
          "aa_end": null,
          "aa_length": 33423,
          "cds_start": 90347,
          "cds_end": null,
          "cds_length": 100272,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_133378.4"
        },
        {
          "aa_ref": "G",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 300,
          "exon_rank_end": null,
          "exon_count": 312,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.90347G>A",
          "hgvs_p": "p.Gly30116Asp",
          "transcript": "ENST00000342992.11",
          "protein_id": "ENSP00000343764.6",
          "transcript_support_level": 5,
          "aa_start": 30116,
          "aa_end": null,
          "aa_length": 33423,
          "cds_start": 90347,
          "cds_end": null,
          "cds_length": 100272,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000342992.11"
        },
        {
          "aa_ref": "G",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 180,
          "exon_rank_end": null,
          "exon_count": 192,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.71432G>A",
          "hgvs_p": "p.Gly23811Asp",
          "transcript": "NM_133437.4",
          "protein_id": "NP_597681.4",
          "transcript_support_level": null,
          "aa_start": 23811,
          "aa_end": null,
          "aa_length": 27118,
          "cds_start": 71432,
          "cds_end": null,
          "cds_length": 81357,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_133437.4"
        },
        {
          "aa_ref": "G",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 179,
          "exon_rank_end": null,
          "exon_count": 191,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.71432G>A",
          "hgvs_p": "p.Gly23811Asp",
          "transcript": "ENST00000342175.12",
          "protein_id": "ENSP00000340554.6",
          "transcript_support_level": 5,
          "aa_start": 23811,
          "aa_end": null,
          "aa_length": 27118,
          "cds_start": 71432,
          "cds_end": null,
          "cds_length": 81357,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000342175.12"
        },
        {
          "aa_ref": "G",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 180,
          "exon_rank_end": null,
          "exon_count": 192,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.71231G>A",
          "hgvs_p": "p.Gly23744Asp",
          "transcript": "NM_133432.3",
          "protein_id": "NP_597676.3",
          "transcript_support_level": null,
          "aa_start": 23744,
          "aa_end": null,
          "aa_length": 27051,
          "cds_start": 71231,
          "cds_end": null,
          "cds_length": 81156,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_133432.3"
        },
        {
          "aa_ref": "G",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 179,
          "exon_rank_end": null,
          "exon_count": 191,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.71231G>A",
          "hgvs_p": "p.Gly23744Asp",
          "transcript": "ENST00000359218.11",
          "protein_id": "ENSP00000352154.5",
          "transcript_support_level": 5,
          "aa_start": 23744,
          "aa_end": null,
          "aa_length": 27051,
          "cds_start": 71231,
          "cds_end": null,
          "cds_length": 81156,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000359218.11"
        },
        {
          "aa_ref": "G",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 179,
          "exon_rank_end": null,
          "exon_count": 191,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.70856G>A",
          "hgvs_p": "p.Gly23619Asp",
          "transcript": "NM_003319.4",
          "protein_id": "NP_003310.4",
          "transcript_support_level": null,
          "aa_start": 23619,
          "aa_end": null,
          "aa_length": 26926,
          "cds_start": 70856,
          "cds_end": null,
          "cds_length": 80781,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_003319.4"
        },
        {
          "aa_ref": "G",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 179,
          "exon_rank_end": null,
          "exon_count": 191,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.70856G>A",
          "hgvs_p": "p.Gly23619Asp",
          "transcript": "ENST00000460472.6",
          "protein_id": "ENSP00000434586.1",
          "transcript_support_level": 5,
          "aa_start": 23619,
          "aa_end": null,
          "aa_length": 26926,
          "cds_start": 70856,
          "cds_end": null,
          "cds_length": 80781,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000460472.6"
        },
        {
          "aa_ref": "G",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 347,
          "exon_rank_end": null,
          "exon_count": 359,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.96944G>A",
          "hgvs_p": "p.Gly32315Asp",
          "transcript": "XM_017004819.1",
          "protein_id": "XP_016860308.1",
          "transcript_support_level": null,
          "aa_start": 32315,
          "aa_end": null,
          "aa_length": 35622,
          "cds_start": 96944,
          "cds_end": null,
          "cds_length": 106869,
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          "gene_symbol": "TTN-AS1",
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          "transcript": "NR_038271.1",
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        {
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          "consequences": [
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          ],
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          "gene_symbol": "TTN-AS1",
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          "transcript": "ENST00000438095.1",
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          "biotype": "pseudogene",
          "feature": "ENST00000438095.1"
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      ],
      "gene_symbol": "TTN",
      "gene_hgnc_id": 12403,
      "dbsnp": "rs774041992",
      "frequency_reference_population": 0.0000037253012,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 6,
      "gnomad_exomes_af": 0.00000274271,
      "gnomad_genomes_af": 0.0000131411,
      "gnomad_exomes_ac": 4,
      "gnomad_genomes_ac": 2,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.6874394416809082,
      "computational_prediction_selected": "Uncertain_significance",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.019999999552965164,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.662,
      "revel_prediction": "Pathogenic",
      "alphamissense_score": 0.9765,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.07,
      "bayesdelnoaf_prediction": "Uncertain_significance",
      "phylop100way_score": 7.905,
      "phylop100way_prediction": "Pathogenic",
      "spliceai_max_score": 0.02,
      "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": 0,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "",
      "acmg_by_gene": [
        {
          "score": 0,
          "benign_score": 0,
          "pathogenic_score": 0,
          "criteria": [],
          "verdict": "Uncertain_significance",
          "transcript": "NM_001267550.2",
          "gene_symbol": "TTN",
          "hgnc_id": 12403,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD,AR",
          "hgvs_c": "c.98051G>A",
          "hgvs_p": "p.Gly32684Asp"
        },
        {
          "score": 2,
          "benign_score": 0,
          "pathogenic_score": 2,
          "criteria": [
            "PM2"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000419746.5",
          "gene_symbol": "TTN-AS1",
          "hgnc_id": 44124,
          "effects": [
            "non_coding_transcript_exon_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.1849C>T",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "Cardiomyopathy",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "Cardiomyopathy",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}