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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: 1-201359225-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=201359225&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 201359225,
      "ref": "G",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "NM_001276345.2",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNNT2",
          "gene_hgnc_id": 11949,
          "hgvs_c": "c.882C>T",
          "hgvs_p": "p.Thr294Thr",
          "transcript": "NM_001276345.2",
          "protein_id": "NP_001263274.1",
          "transcript_support_level": null,
          "aa_start": 294,
          "aa_end": null,
          "aa_length": 298,
          "cds_start": 882,
          "cds_end": null,
          "cds_length": 897,
          "cdna_start": 954,
          "cdna_end": null,
          "cdna_length": 1165,
          "mane_select": "ENST00000656932.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNNT2",
          "gene_hgnc_id": 11949,
          "hgvs_c": "c.882C>T",
          "hgvs_p": "p.Thr294Thr",
          "transcript": "ENST00000656932.1",
          "protein_id": "ENSP00000499593.1",
          "transcript_support_level": null,
          "aa_start": 294,
          "aa_end": null,
          "aa_length": 298,
          "cds_start": 882,
          "cds_end": null,
          "cds_length": 897,
          "cdna_start": 954,
          "cdna_end": null,
          "cdna_length": 1165,
          "mane_select": "NM_001276345.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNNT2",
          "gene_hgnc_id": 11949,
          "hgvs_c": "c.840C>T",
          "hgvs_p": "p.Thr280Thr",
          "transcript": "ENST00000367322.6",
          "protein_id": "ENSP00000356291.2",
          "transcript_support_level": 1,
          "aa_start": 280,
          "aa_end": null,
          "aa_length": 284,
          "cds_start": 840,
          "cds_end": null,
          "cds_length": 855,
          "cdna_start": 916,
          "cdna_end": null,
          "cdna_length": 1127,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNNT2",
          "gene_hgnc_id": 11949,
          "hgvs_c": "c.753C>T",
          "hgvs_p": "p.Thr251Thr",
          "transcript": "ENST00000367320.6",
          "protein_id": "ENSP00000356289.2",
          "transcript_support_level": 1,
          "aa_start": 251,
          "aa_end": null,
          "aa_length": 255,
          "cds_start": 753,
          "cds_end": null,
          "cds_length": 768,
          "cdna_start": 806,
          "cdna_end": null,
          "cdna_length": 1007,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNNT2",
          "gene_hgnc_id": 11949,
          "hgvs_c": "c.917C>T",
          "hgvs_p": "p.Pro306Leu",
          "transcript": "ENST00000658476.1",
          "protein_id": "ENSP00000499741.1",
          "transcript_support_level": null,
          "aa_start": 306,
          "aa_end": null,
          "aa_length": 368,
          "cds_start": 917,
          "cds_end": null,
          "cds_length": 1107,
          "cdna_start": 931,
          "cdna_end": null,
          "cdna_length": 1139,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNNT2",
          "gene_hgnc_id": 11949,
          "hgvs_c": "c.882C>T",
          "hgvs_p": "p.Thr294Thr",
          "transcript": "ENST00000714314.1",
          "protein_id": "ENSP00000519590.1",
          "transcript_support_level": null,
          "aa_start": 294,
          "aa_end": null,
          "aa_length": 298,
          "cds_start": 882,
          "cds_end": null,
          "cds_length": 897,
          "cdna_start": 957,
          "cdna_end": null,
          "cdna_length": 1168,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNNT2",
          "gene_hgnc_id": 11949,
          "hgvs_c": "c.873C>T",
          "hgvs_p": "p.Thr291Thr",
          "transcript": "NM_000364.4",
          "protein_id": "NP_000355.2",
          "transcript_support_level": null,
          "aa_start": 291,
          "aa_end": null,
          "aa_length": 295,
          "cds_start": 873,
          "cds_end": null,
          "cds_length": 888,
          "cdna_start": 945,
          "cdna_end": null,
          "cdna_length": 1156,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNNT2",
          "gene_hgnc_id": 11949,
          "hgvs_c": "c.873C>T",
          "hgvs_p": "p.Thr291Thr",
          "transcript": "NM_001406723.1",
          "protein_id": "NP_001393652.1",
          "transcript_support_level": null,
          "aa_start": 291,
          "aa_end": null,
          "aa_length": 295,
          "cds_start": 873,
          "cds_end": null,
          "cds_length": 888,
          "cdna_start": 1078,
          "cdna_end": null,
          "cdna_length": 1289,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNNT2",
          "gene_hgnc_id": 11949,
          "hgvs_c": "c.873C>T",
          "hgvs_p": "p.Thr291Thr",
          "transcript": "ENST00000422165.6",
          "protein_id": "ENSP00000395163.2",
          "transcript_support_level": 5,
          "aa_start": 291,
          "aa_end": null,
          "aa_length": 295,
          "cds_start": 873,
          "cds_end": null,
          "cds_length": 888,
          "cdna_start": 945,
          "cdna_end": null,
          "cdna_length": 1156,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNNT2",
          "gene_hgnc_id": 11949,
          "hgvs_c": "c.867C>T",
          "hgvs_p": "p.Thr289Thr",
          "transcript": "ENST00000455702.7",
          "protein_id": "ENSP00000402238.3",
          "transcript_support_level": 5,
          "aa_start": 289,
          "aa_end": null,
          "aa_length": 293,
          "cds_start": 867,
          "cds_end": null,
          "cds_length": 882,
          "cdna_start": 911,
          "cdna_end": null,
          "cdna_length": 1128,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "TNNT2",
          "gene_hgnc_id": 11949,
          "hgvs_c": "c.852C>T",
          "hgvs_p": "p.Thr284Thr",
          "transcript": "NM_001001430.3",
          "protein_id": "NP_001001430.1",
          "transcript_support_level": null,
          "aa_start": 284,
          "aa_end": null,
          "aa_length": 288,
          "cds_start": 852,
          "cds_end": null,
          "cds_length": 867,
          "cdna_start": 924,
          "cdna_end": null,
          "cdna_length": 1135,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNNT2",
          "gene_hgnc_id": 11949,
          "hgvs_c": "c.852C>T",
          "hgvs_p": "p.Thr284Thr",
          "transcript": "NM_001276347.2",
          "protein_id": "NP_001263276.1",
          "transcript_support_level": null,
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          "cds_start": 852,
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          "cdna_start": 1057,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "TNNT2",
          "gene_hgnc_id": 11949,
          "hgvs_c": "c.852C>T",
          "hgvs_p": "p.Thr284Thr",
          "transcript": "NM_001406724.1",
          "protein_id": "NP_001393653.1",
          "transcript_support_level": null,
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          "aa_length": 288,
          "cds_start": 852,
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          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNNT2",
          "gene_hgnc_id": 11949,
          "hgvs_c": "c.852C>T",
          "hgvs_p": "p.Thr284Thr",
          "transcript": "ENST00000367318.10",
          "protein_id": "ENSP00000356287.5",
          "transcript_support_level": 5,
          "aa_start": 284,
          "aa_end": null,
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          "cds_start": 852,
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          "cdna_start": 924,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
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          ],
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          "gene_symbol": "TNNT2",
          "gene_hgnc_id": 11949,
          "hgvs_c": "c.852C>T",
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          "transcript": "ENST00000509001.5",
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNNT2",
          "gene_hgnc_id": 11949,
          "hgvs_c": "c.852C>T",
          "hgvs_p": "p.Thr284Thr",
          "transcript": "ENST00000660295.1",
          "protein_id": "ENSP00000499418.1",
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          "aa_start": 284,
          "aa_end": null,
          "aa_length": 288,
          "cds_start": 852,
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          "cdna_start": 1085,
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          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNNT2",
          "gene_hgnc_id": 11949,
          "hgvs_c": "c.849C>T",
          "hgvs_p": "p.Thr283Thr",
          "transcript": "NM_001406725.1",
          "protein_id": "NP_001393654.1",
          "transcript_support_level": null,
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          "aa_end": null,
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          "cds_start": 849,
          "cds_end": null,
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          "cdna_start": 921,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 15,
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          "exon_count": 15,
          "intron_rank": null,
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          "gene_symbol": "TNNT2",
          "gene_hgnc_id": 11949,
          "hgvs_c": "c.843C>T",
          "hgvs_p": "p.Thr281Thr",
          "transcript": "NM_001001431.3",
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          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
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          "exon_count": 15,
          "intron_rank": null,
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          "gene_symbol": "TNNT2",
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          "hgvs_c": "c.843C>T",
          "hgvs_p": "p.Thr281Thr",
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNNT2",
          "gene_hgnc_id": 11949,
          "hgvs_c": "c.843C>T",
          "hgvs_p": "p.Thr281Thr",
          "transcript": "NM_001406727.1",
          "protein_id": "NP_001393656.1",
          "transcript_support_level": null,
          "aa_start": 281,
          "aa_end": null,
          "aa_length": 285,
          "cds_start": 843,
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          "cdna_start": 906,
          "cdna_end": null,
          "cdna_length": 1117,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
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      ],
      "gene_symbol": "TNNT2",
      "gene_hgnc_id": 11949,
      "dbsnp": "rs45465693",
      "frequency_reference_population": 0.00005711916,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 92,
      "gnomad_exomes_af": 0.0000589645,
      "gnomad_genomes_af": 0.0000394311,
      "gnomad_exomes_ac": 86,
      "gnomad_genomes_ac": 6,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.3700000047683716,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0.05000000074505806,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.37,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -1.952,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.05,
      "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": -15,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1",
      "acmg_by_gene": [
        {
          "score": -15,
          "benign_score": 15,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Moderate",
            "BP6_Very_Strong",
            "BP7",
            "BS1"
          ],
          "verdict": "Benign",
          "transcript": "NM_001276345.2",
          "gene_symbol": "TNNT2",
          "hgnc_id": 11949,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD,AR",
          "hgvs_c": "c.882C>T",
          "hgvs_p": "p.Thr294Thr"
        },
        {
          "score": -10,
          "benign_score": 10,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Moderate",
            "BP6_Very_Strong"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000671234.1",
          "gene_symbol": "ENSG00000286600",
          "hgnc_id": null,
          "effects": [
            "non_coding_transcript_exon_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.989C>T",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": " 3, familial restrictive,Cardiomyopathy,Cardiovascular phenotype,Dilated cardiomyopathy 1D,Hypertrophic cardiomyopathy 2,not provided,not specified",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "LB:11",
      "phenotype_combined": "Hypertrophic cardiomyopathy 2;Dilated cardiomyopathy 1D;Cardiomyopathy, familial restrictive, 3|Cardiomyopathy|not provided|Cardiovascular phenotype|Hypertrophic cardiomyopathy 2|Cardiomyopathy, familial restrictive, 3|not specified|Dilated cardiomyopathy 1D",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}