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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: 2-61492336-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=61492336&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 61492336,
      "ref": "T",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_003400.4",
      "consequences": [
        {
          "aa_ref": "E",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPO1",
          "gene_hgnc_id": 12825,
          "hgvs_c": "c.1712A>G",
          "hgvs_p": "p.Glu571Gly",
          "transcript": "NM_003400.4",
          "protein_id": "NP_003391.1",
          "transcript_support_level": null,
          "aa_start": 571,
          "aa_end": null,
          "aa_length": 1071,
          "cds_start": 1712,
          "cds_end": null,
          "cds_length": 3216,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000401558.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_003400.4"
        },
        {
          "aa_ref": "E",
          "aa_alt": "G",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPO1",
          "gene_hgnc_id": 12825,
          "hgvs_c": "c.1712A>G",
          "hgvs_p": "p.Glu571Gly",
          "transcript": "ENST00000401558.7",
          "protein_id": "ENSP00000384863.2",
          "transcript_support_level": 1,
          "aa_start": 571,
          "aa_end": null,
          "aa_length": 1071,
          "cds_start": 1712,
          "cds_end": null,
          "cds_length": 3216,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_003400.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000401558.7"
        },
        {
          "aa_ref": "E",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPO1",
          "gene_hgnc_id": 12825,
          "hgvs_c": "c.1712A>G",
          "hgvs_p": "p.Glu571Gly",
          "transcript": "ENST00000406957.5",
          "protein_id": "ENSP00000385559.1",
          "transcript_support_level": 1,
          "aa_start": 571,
          "aa_end": null,
          "aa_length": 1071,
          "cds_start": 1712,
          "cds_end": null,
          "cds_length": 3216,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000406957.5"
        },
        {
          "aa_ref": "E",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPO1",
          "gene_hgnc_id": 12825,
          "hgvs_c": "c.1712A>G",
          "hgvs_p": "p.Glu571Gly",
          "transcript": "ENST00000404992.6",
          "protein_id": "ENSP00000385942.2",
          "transcript_support_level": 2,
          "aa_start": 571,
          "aa_end": null,
          "aa_length": 1071,
          "cds_start": 1712,
          "cds_end": null,
          "cds_length": 3216,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000404992.6"
        },
        {
          "aa_ref": "E",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPO1",
          "gene_hgnc_id": 12825,
          "hgvs_c": "c.1712A>G",
          "hgvs_p": "p.Glu571Gly",
          "transcript": "ENST00000676553.1",
          "protein_id": "ENSP00000504247.1",
          "transcript_support_level": null,
          "aa_start": 571,
          "aa_end": null,
          "aa_length": 1071,
          "cds_start": 1712,
          "cds_end": null,
          "cds_length": 3216,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000676553.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPO1",
          "gene_hgnc_id": 12825,
          "hgvs_c": "c.1712A>G",
          "hgvs_p": "p.Glu571Gly",
          "transcript": "ENST00000676667.1",
          "protein_id": "ENSP00000503809.1",
          "transcript_support_level": null,
          "aa_start": 571,
          "aa_end": null,
          "aa_length": 1071,
          "cds_start": 1712,
          "cds_end": null,
          "cds_length": 3216,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000676667.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPO1",
          "gene_hgnc_id": 12825,
          "hgvs_c": "c.1712A>G",
          "hgvs_p": "p.Glu571Gly",
          "transcript": "ENST00000677150.1",
          "protein_id": "ENSP00000503167.1",
          "transcript_support_level": null,
          "aa_start": 571,
          "aa_end": null,
          "aa_length": 1071,
          "cds_start": 1712,
          "cds_end": null,
          "cds_length": 3216,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000677150.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPO1",
          "gene_hgnc_id": 12825,
          "hgvs_c": "c.1712A>G",
          "hgvs_p": "p.Glu571Gly",
          "transcript": "ENST00000677239.1",
          "protein_id": "ENSP00000504087.1",
          "transcript_support_level": null,
          "aa_start": 571,
          "aa_end": null,
          "aa_length": 1071,
          "cds_start": 1712,
          "cds_end": null,
          "cds_length": 3216,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000677239.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPO1",
          "gene_hgnc_id": 12825,
          "hgvs_c": "c.1712A>G",
          "hgvs_p": "p.Glu571Gly",
          "transcript": "ENST00000677417.1",
          "protein_id": "ENSP00000503572.1",
          "transcript_support_level": null,
          "aa_start": 571,
          "aa_end": null,
          "aa_length": 1071,
          "cds_start": 1712,
          "cds_end": null,
          "cds_length": 3216,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000677417.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPO1",
          "gene_hgnc_id": 12825,
          "hgvs_c": "c.1712A>G",
          "hgvs_p": "p.Glu571Gly",
          "transcript": "ENST00000677813.1",
          "protein_id": "ENSP00000504543.1",
          "transcript_support_level": null,
          "aa_start": 571,
          "aa_end": null,
          "aa_length": 1071,
          "cds_start": 1712,
          "cds_end": null,
          "cds_length": 3216,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000677813.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPO1",
          "gene_hgnc_id": 12825,
          "hgvs_c": "c.1712A>G",
          "hgvs_p": "p.Glu571Gly",
          "transcript": "ENST00000677814.1",
          "protein_id": "ENSP00000504848.1",
          "transcript_support_level": null,
          "aa_start": 571,
          "aa_end": null,
          "aa_length": 1071,
          "cds_start": 1712,
          "cds_end": null,
          "cds_length": 3216,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000677814.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPO1",
          "gene_hgnc_id": 12825,
          "hgvs_c": "c.1712A>G",
          "hgvs_p": "p.Glu571Gly",
          "transcript": "ENST00000677928.1",
          "protein_id": "ENSP00000504198.1",
          "transcript_support_level": null,
          "aa_start": 571,
          "aa_end": null,
          "aa_length": 1071,
          "cds_start": 1712,
          "cds_end": null,
          "cds_length": 3216,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000677928.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPO1",
          "gene_hgnc_id": 12825,
          "hgvs_c": "c.1712A>G",
          "hgvs_p": "p.Glu571Gly",
          "transcript": "ENST00000677933.1",
          "protein_id": "ENSP00000503482.1",
          "transcript_support_level": null,
          "aa_start": 571,
          "aa_end": null,
          "aa_length": 1071,
          "cds_start": 1712,
          "cds_end": null,
          "cds_length": 3216,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000677933.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPO1",
          "gene_hgnc_id": 12825,
          "hgvs_c": "c.1712A>G",
          "hgvs_p": "p.Glu571Gly",
          "transcript": "ENST00000678182.1",
          "protein_id": "ENSP00000504594.1",
          "transcript_support_level": null,
          "aa_start": 571,
          "aa_end": null,
          "aa_length": 1071,
          "cds_start": 1712,
          "cds_end": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "E",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPO1",
          "gene_hgnc_id": 12825,
          "hgvs_c": "c.1712A>G",
          "hgvs_p": "p.Glu571Gly",
          "transcript": "ENST00000678790.1",
          "protein_id": "ENSP00000503419.1",
          "transcript_support_level": null,
          "aa_start": 571,
          "aa_end": null,
          "aa_length": 1071,
          "cds_start": 1712,
          "cds_end": null,
          "cds_length": 3216,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000678790.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPO1",
          "gene_hgnc_id": 12825,
          "hgvs_c": "c.1712A>G",
          "hgvs_p": "p.Glu571Gly",
          "transcript": "ENST00000852809.1",
          "protein_id": "ENSP00000522868.1",
          "transcript_support_level": null,
          "aa_start": 571,
          "aa_end": null,
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          "cds_start": 1712,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000852809.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPO1",
          "gene_hgnc_id": 12825,
          "hgvs_c": "c.1712A>G",
          "hgvs_p": "p.Glu571Gly",
          "transcript": "ENST00000852810.1",
          "protein_id": "ENSP00000522869.1",
          "transcript_support_level": null,
          "aa_start": 571,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "E",
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          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
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          "gene_symbol": "XPO1",
          "gene_hgnc_id": 12825,
          "hgvs_c": "c.1712A>G",
          "hgvs_p": "p.Glu571Gly",
          "transcript": "ENST00000852812.1",
          "protein_id": "ENSP00000522871.1",
          "transcript_support_level": null,
          "aa_start": 571,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        {
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
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          "gene_symbol": "XPO1",
          "gene_hgnc_id": 12825,
          "hgvs_c": "c.1712A>G",
          "hgvs_p": "p.Glu571Gly",
          "transcript": "ENST00000852815.1",
          "protein_id": "ENSP00000522874.1",
          "transcript_support_level": null,
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          "cds_start": 1712,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000852815.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPO1",
          "gene_hgnc_id": 12825,
          "hgvs_c": "c.1712A>G",
          "hgvs_p": "p.Glu571Gly",
          "transcript": "ENST00000852816.1",
          "protein_id": "ENSP00000522875.1",
          "transcript_support_level": null,
          "aa_start": 571,
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          "cds_start": 1712,
          "cds_end": null,
          "cds_length": 3216,
          "cdna_start": null,
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      "dbsnp": "rs1057520010",
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      "gnomad_exomes_homalt": 0,
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      "computational_score_selected": 0.8713359832763672,
      "computational_prediction_selected": "Pathogenic",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "revel_prediction": "Pathogenic",
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      "bayesdelnoaf_score": 0.23,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 7.896,
      "phylop100way_prediction": "Pathogenic",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
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      "acmg_score": 5,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,PP2,PP3_Moderate",
      "acmg_by_gene": [
        {
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          "criteria": [
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            "PP2",
            "PP3_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_003400.4",
          "gene_symbol": "XPO1",
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          "effects": [
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          "inheritance_mode": "AD",
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        {
          "score": 4,
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            "PP3_Moderate"
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          "verdict": "Uncertain_significance",
          "transcript": "ENST00000805155.1",
          "gene_symbol": "USP34-DT",
          "hgnc_id": 55262,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.607-2693T>C",
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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
}