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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: 13-101726667-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=101726667&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "13",
      "pos": 101726667,
      "ref": "C",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "ENST00000376143.5",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGF14",
          "gene_hgnc_id": 3671,
          "hgvs_c": "c.552G>T",
          "hgvs_p": "p.Gly184Gly",
          "transcript": "NM_004115.4",
          "protein_id": "NP_004106.1",
          "transcript_support_level": null,
          "aa_start": 184,
          "aa_end": null,
          "aa_length": 247,
          "cds_start": 552,
          "cds_end": null,
          "cds_length": 744,
          "cdna_start": 852,
          "cdna_end": null,
          "cdna_length": 13071,
          "mane_select": "ENST00000376143.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGF14",
          "gene_hgnc_id": 3671,
          "hgvs_c": "c.552G>T",
          "hgvs_p": "p.Gly184Gly",
          "transcript": "ENST00000376143.5",
          "protein_id": "ENSP00000365313.4",
          "transcript_support_level": 1,
          "aa_start": 184,
          "aa_end": null,
          "aa_length": 247,
          "cds_start": 552,
          "cds_end": null,
          "cds_length": 744,
          "cdna_start": 852,
          "cdna_end": null,
          "cdna_length": 13071,
          "mane_select": "NM_004115.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGF14",
          "gene_hgnc_id": 3671,
          "hgvs_c": "c.567G>T",
          "hgvs_p": "p.Gly189Gly",
          "transcript": "ENST00000376131.9",
          "protein_id": "ENSP00000365301.3",
          "transcript_support_level": 1,
          "aa_start": 189,
          "aa_end": null,
          "aa_length": 252,
          "cds_start": 567,
          "cds_end": null,
          "cds_length": 759,
          "cdna_start": 937,
          "cdna_end": null,
          "cdna_length": 13156,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGF14",
          "gene_hgnc_id": 3671,
          "hgvs_c": "c.567G>T",
          "hgvs_p": "p.Gly189Gly",
          "transcript": "NM_175929.3",
          "protein_id": "NP_787125.1",
          "transcript_support_level": null,
          "aa_start": 189,
          "aa_end": null,
          "aa_length": 252,
          "cds_start": 567,
          "cds_end": null,
          "cds_length": 759,
          "cdna_start": 937,
          "cdna_end": null,
          "cdna_length": 13156,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGF14",
          "gene_hgnc_id": 3671,
          "hgvs_c": "c.456G>T",
          "hgvs_p": "p.Gly152Gly",
          "transcript": "NM_001321939.2",
          "protein_id": "NP_001308868.1",
          "transcript_support_level": null,
          "aa_start": 152,
          "aa_end": null,
          "aa_length": 215,
          "cds_start": 456,
          "cds_end": null,
          "cds_length": 648,
          "cdna_start": 826,
          "cdna_end": null,
          "cdna_length": 13045,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGF14",
          "gene_hgnc_id": 3671,
          "hgvs_c": "c.450G>T",
          "hgvs_p": "p.Gly150Gly",
          "transcript": "NM_001321945.2",
          "protein_id": "NP_001308874.1",
          "transcript_support_level": null,
          "aa_start": 150,
          "aa_end": null,
          "aa_length": 213,
          "cds_start": 450,
          "cds_end": null,
          "cds_length": 642,
          "cdna_start": 808,
          "cdna_end": null,
          "cdna_length": 13027,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGF14",
          "gene_hgnc_id": 3671,
          "hgvs_c": "c.450G>T",
          "hgvs_p": "p.Gly150Gly",
          "transcript": "NM_001321948.2",
          "protein_id": "NP_001308877.1",
          "transcript_support_level": null,
          "aa_start": 150,
          "aa_end": null,
          "aa_length": 213,
          "cds_start": 450,
          "cds_end": null,
          "cds_length": 642,
          "cdna_start": 804,
          "cdna_end": null,
          "cdna_length": 13023,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGF14",
          "gene_hgnc_id": 3671,
          "hgvs_c": "c.450G>T",
          "hgvs_p": "p.Gly150Gly",
          "transcript": "NM_001379342.1",
          "protein_id": "NP_001366271.1",
          "transcript_support_level": null,
          "aa_start": 150,
          "aa_end": null,
          "aa_length": 213,
          "cds_start": 450,
          "cds_end": null,
          "cds_length": 642,
          "cdna_start": 795,
          "cdna_end": null,
          "cdna_length": 13014,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGF14",
          "gene_hgnc_id": 3671,
          "hgvs_c": "c.450G>T",
          "hgvs_p": "p.Gly150Gly",
          "transcript": "ENST00000418923.3",
          "protein_id": "ENSP00000516414.1",
          "transcript_support_level": 3,
          "aa_start": 150,
          "aa_end": null,
          "aa_length": 213,
          "cds_start": 450,
          "cds_end": null,
          "cds_length": 642,
          "cdna_start": 818,
          "cdna_end": null,
          "cdna_length": 1922,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGF14",
          "gene_hgnc_id": 3671,
          "hgvs_c": "c.411G>T",
          "hgvs_p": "p.Gly137Gly",
          "transcript": "NM_001321947.2",
          "protein_id": "NP_001308876.1",
          "transcript_support_level": null,
          "aa_start": 137,
          "aa_end": null,
          "aa_length": 200,
          "cds_start": 411,
          "cds_end": null,
          "cds_length": 603,
          "cdna_start": 732,
          "cdna_end": null,
          "cdna_length": 12951,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGF14",
          "gene_hgnc_id": 3671,
          "hgvs_c": "c.372G>T",
          "hgvs_p": "p.Gly124Gly",
          "transcript": "NM_001321933.1",
          "protein_id": "NP_001308862.1",
          "transcript_support_level": null,
          "aa_start": 124,
          "aa_end": null,
          "aa_length": 187,
          "cds_start": 372,
          "cds_end": null,
          "cds_length": 564,
          "cdna_start": 812,
          "cdna_end": null,
          "cdna_length": 2980,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGF14",
          "gene_hgnc_id": 3671,
          "hgvs_c": "c.372G>T",
          "hgvs_p": "p.Gly124Gly",
          "transcript": "NM_001321938.2",
          "protein_id": "NP_001308867.1",
          "transcript_support_level": null,
          "aa_start": 124,
          "aa_end": null,
          "aa_length": 187,
          "cds_start": 372,
          "cds_end": null,
          "cds_length": 564,
          "cdna_start": 1214,
          "cdna_end": null,
          "cdna_length": 13433,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGF14",
          "gene_hgnc_id": 3671,
          "hgvs_c": "c.372G>T",
          "hgvs_p": "p.Gly124Gly",
          "transcript": "NM_001321940.1",
          "protein_id": "NP_001308869.1",
          "transcript_support_level": null,
          "aa_start": 124,
          "aa_end": null,
          "aa_length": 187,
          "cds_start": 372,
          "cds_end": null,
          "cds_length": 564,
          "cdna_start": 1158,
          "cdna_end": null,
          "cdna_length": 3326,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGF14",
          "gene_hgnc_id": 3671,
          "hgvs_c": "c.366G>T",
          "hgvs_p": "p.Gly122Gly",
          "transcript": "NM_001321941.2",
          "protein_id": "NP_001308870.1",
          "transcript_support_level": null,
          "aa_start": 122,
          "aa_end": null,
          "aa_length": 185,
          "cds_start": 366,
          "cds_end": null,
          "cds_length": 558,
          "cdna_start": 1004,
          "cdna_end": null,
          "cdna_length": 13223,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
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          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "FGF14",
          "gene_hgnc_id": 3671,
          "hgvs_c": "c.363G>T",
          "hgvs_p": "p.Gly121Gly",
          "transcript": "NM_001321932.1",
          "protein_id": "NP_001308861.1",
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          "cds_start": 363,
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          "cdna_start": 902,
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          "cdna_length": 3070,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
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          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGF14",
          "gene_hgnc_id": 3671,
          "hgvs_c": "c.363G>T",
          "hgvs_p": "p.Gly121Gly",
          "transcript": "NM_001321936.1",
          "protein_id": "NP_001308865.1",
          "transcript_support_level": null,
          "aa_start": 121,
          "aa_end": null,
          "aa_length": 184,
          "cds_start": 363,
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          "cds_length": 555,
          "cdna_start": 755,
          "cdna_end": null,
          "cdna_length": 2923,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "FGF14",
          "gene_hgnc_id": 3671,
          "hgvs_c": "c.363G>T",
          "hgvs_p": "p.Gly121Gly",
          "transcript": "NM_001321944.1",
          "protein_id": "NP_001308873.1",
          "transcript_support_level": null,
          "aa_start": 121,
          "aa_end": null,
          "aa_length": 184,
          "cds_start": 363,
          "cds_end": null,
          "cds_length": 555,
          "cdna_start": 1250,
          "cdna_end": null,
          "cdna_length": 3418,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
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          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "FGF14",
          "gene_hgnc_id": 3671,
          "hgvs_c": "c.300G>T",
          "hgvs_p": "p.Gly100Gly",
          "transcript": "NM_001321931.1",
          "protein_id": "NP_001308860.1",
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          "cdna_length": 2984,
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          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
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          "gene_symbol": "FGF14",
          "gene_hgnc_id": 3671,
          "hgvs_c": "c.300G>T",
          "hgvs_p": "p.Gly100Gly",
          "transcript": "NM_001321934.1",
          "protein_id": "NP_001308863.1",
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
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          "exon_count": 5,
          "intron_rank": null,
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          "gene_symbol": "FGF14",
          "gene_hgnc_id": 3671,
          "hgvs_c": "c.300G>T",
          "hgvs_p": "p.Gly100Gly",
          "transcript": "NM_001321935.1",
          "protein_id": "NP_001308864.1",
          "transcript_support_level": null,
          "aa_start": 100,
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          "aa_length": 163,
          "cds_start": 300,
          "cds_end": null,
          "cds_length": 492,
          "cdna_start": 428,
          "cdna_end": null,
          "cdna_length": 2596,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGF14",
          "gene_hgnc_id": 3671,
          "hgvs_c": "c.300G>T",
          "hgvs_p": "p.Gly100Gly",
          "transcript": "NM_001321942.1",
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      "gene_symbol": "FGF14",
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      "dbsnp": "rs1204741145",
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      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
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      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
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      "computational_score_selected": -0.4099999964237213,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "alphamissense_score": null,
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      "bayesdelnoaf_score": -0.41,
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      "phylop100way_score": 0.206,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
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      "acmg_score": -1,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Moderate,BP7",
      "acmg_by_gene": [
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          "pathogenic_score": 2,
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            "BP4_Moderate",
            "BP7"
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          "verdict": "Likely_benign",
          "transcript": "ENST00000376143.5",
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          "inheritance_mode": "AD,AR",
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          "hgvs_p": "p.Gly184Gly"
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}