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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: 18-74499889-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=74499889&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "18",
      "pos": 74499889,
      "ref": "C",
      "alt": "G",
      "effect": "5_prime_UTR_variant",
      "transcript": "NM_018235.3",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNDP2",
          "gene_hgnc_id": 24437,
          "hgvs_c": "c.-85C>G",
          "hgvs_p": null,
          "transcript": "NM_018235.3",
          "protein_id": "NP_060705.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1428,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000324262.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_018235.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNDP2",
          "gene_hgnc_id": 24437,
          "hgvs_c": "c.-85C>G",
          "hgvs_p": null,
          "transcript": "ENST00000324262.9",
          "protein_id": "ENSP00000325548.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1428,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_018235.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000324262.9"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNDP2",
          "gene_hgnc_id": 24437,
          "hgvs_c": "c.-85C>G",
          "hgvs_p": null,
          "transcript": "ENST00000324301.12",
          "protein_id": "ENSP00000325756.8",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 391,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1176,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000324301.12"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNDP2",
          "gene_hgnc_id": 24437,
          "hgvs_c": "c.-85C>G",
          "hgvs_p": null,
          "transcript": "ENST00000880651.1",
          "protein_id": "ENSP00000550710.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1545,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000880651.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNDP2",
          "gene_hgnc_id": 24437,
          "hgvs_c": "c.-85C>G",
          "hgvs_p": null,
          "transcript": "ENST00000969808.1",
          "protein_id": "ENSP00000639867.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 486,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1461,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000969808.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNDP2",
          "gene_hgnc_id": 24437,
          "hgvs_c": "c.-85C>G",
          "hgvs_p": null,
          "transcript": "ENST00000880668.1",
          "protein_id": "ENSP00000550727.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 484,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1455,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000880668.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNDP2",
          "gene_hgnc_id": 24437,
          "hgvs_c": "c.-85C>G",
          "hgvs_p": null,
          "transcript": "ENST00000969810.1",
          "protein_id": "ENSP00000639869.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 484,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1455,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000969810.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNDP2",
          "gene_hgnc_id": 24437,
          "hgvs_c": "c.-85C>G",
          "hgvs_p": null,
          "transcript": "ENST00000880643.1",
          "protein_id": "ENSP00000550702.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 480,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1443,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000880643.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNDP2",
          "gene_hgnc_id": 24437,
          "hgvs_c": "c.-85C>G",
          "hgvs_p": null,
          "transcript": "ENST00000880639.1",
          "protein_id": "ENSP00000550698.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1428,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000880639.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNDP2",
          "gene_hgnc_id": 24437,
          "hgvs_c": "c.-85C>G",
          "hgvs_p": null,
          "transcript": "ENST00000880640.1",
          "protein_id": "ENSP00000550699.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1428,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000880640.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNDP2",
          "gene_hgnc_id": 24437,
          "hgvs_c": "c.-85C>G",
          "hgvs_p": null,
          "transcript": "ENST00000880644.1",
          "protein_id": "ENSP00000550703.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1428,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000880644.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNDP2",
          "gene_hgnc_id": 24437,
          "hgvs_c": "c.-85C>G",
          "hgvs_p": null,
          "transcript": "ENST00000880646.1",
          "protein_id": "ENSP00000550705.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": null,
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          "cds_length": 1428,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000880646.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNDP2",
          "gene_hgnc_id": 24437,
          "hgvs_c": "c.-85C>G",
          "hgvs_p": null,
          "transcript": "ENST00000880647.1",
          "protein_id": "ENSP00000550706.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 475,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000880647.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNDP2",
          "gene_hgnc_id": 24437,
          "hgvs_c": "c.-85C>G",
          "hgvs_p": null,
          "transcript": "ENST00000880648.1",
          "protein_id": "ENSP00000550707.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": null,
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          "cds_length": 1428,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000880648.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
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          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
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          "exon_count": 13,
          "intron_rank": null,
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          "gene_symbol": "CNDP2",
          "gene_hgnc_id": 24437,
          "hgvs_c": "c.-85C>G",
          "hgvs_p": null,
          "transcript": "ENST00000880650.1",
          "protein_id": "ENSP00000550709.1",
          "transcript_support_level": null,
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          "aa_length": 475,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000880650.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNDP2",
          "gene_hgnc_id": 24437,
          "hgvs_c": "c.-85C>G",
          "hgvs_p": null,
          "transcript": "ENST00000880669.1",
          "protein_id": "ENSP00000550728.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 475,
          "cds_start": 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",
          "feature": "ENST00000880669.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNDP2",
          "gene_hgnc_id": 24437,
          "hgvs_c": "c.-85C>G",
          "hgvs_p": null,
          "transcript": "ENST00000880672.1",
          "protein_id": "ENSP00000550731.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 475,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
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          ],
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          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNDP2",
          "gene_hgnc_id": 24437,
          "hgvs_c": "c.-85C>G",
          "hgvs_p": null,
          "transcript": "ENST00000880676.1",
          "protein_id": "ENSP00000550735.1",
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          "biotype": "protein_coding",
          "feature": "ENST00000880676.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
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          "exon_count": 12,
          "intron_rank": null,
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          "gene_symbol": "CNDP2",
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          "hgvs_c": "c.-85C>G",
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          "transcript": "ENST00000880678.1",
          "protein_id": "ENSP00000550737.1",
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          "cds_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": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNDP2",
          "gene_hgnc_id": 24437,
          "hgvs_c": "c.-85C>G",
          "hgvs_p": null,
          "transcript": "ENST00000880680.1",
          "protein_id": "ENSP00000550739.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": null,
          "cds_end": null,
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          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000880680.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
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      "gnomad_mito_homoplasmic": null,
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      "computational_score_selected": -0.8600000143051147,
      "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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      "bayesdelnoaf_score": -0.86,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -2.948,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
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      "acmg_score": -12,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
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            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "NM_018235.3",
          "gene_symbol": "CNDP2",
          "hgnc_id": 24437,
          "effects": [
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          "inheritance_mode": "AR",
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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
}