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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: 19-38897076-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=38897076&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "19",
      "pos": 38897076,
      "ref": "G",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "NM_012237.4",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SIRT2",
          "gene_hgnc_id": 10886,
          "hgvs_c": "c.63+1303C>A",
          "hgvs_p": null,
          "transcript": "NM_012237.4",
          "protein_id": "NP_036369.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 389,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1170,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000249396.12",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_012237.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SIRT2",
          "gene_hgnc_id": 10886,
          "hgvs_c": "c.63+1303C>A",
          "hgvs_p": null,
          "transcript": "ENST00000249396.12",
          "protein_id": "ENSP00000249396.7",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 389,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1170,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_012237.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000249396.12"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SIRT2",
          "gene_hgnc_id": 10886,
          "hgvs_c": "c.-49+2430C>A",
          "hgvs_p": null,
          "transcript": "ENST00000392081.6",
          "protein_id": "ENSP00000375931.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 352,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1059,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000392081.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SIRT2",
          "gene_hgnc_id": 10886,
          "hgvs_c": "c.63+1303C>A",
          "hgvs_p": null,
          "transcript": "ENST00000872149.1",
          "protein_id": "ENSP00000542208.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 388,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1167,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872149.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SIRT2",
          "gene_hgnc_id": 10886,
          "hgvs_c": "c.63+1303C>A",
          "hgvs_p": null,
          "transcript": "ENST00000872147.1",
          "protein_id": "ENSP00000542206.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 387,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1164,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872147.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SIRT2",
          "gene_hgnc_id": 10886,
          "hgvs_c": "c.63+1303C>A",
          "hgvs_p": null,
          "transcript": "ENST00000872146.1",
          "protein_id": "ENSP00000542205.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 373,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1122,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872146.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SIRT2",
          "gene_hgnc_id": 10886,
          "hgvs_c": "c.63+1303C>A",
          "hgvs_p": null,
          "transcript": "ENST00000872151.1",
          "protein_id": "ENSP00000542210.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 363,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1092,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872151.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SIRT2",
          "gene_hgnc_id": 10886,
          "hgvs_c": "c.16+2430C>A",
          "hgvs_p": null,
          "transcript": "ENST00000872150.1",
          "protein_id": "ENSP00000542209.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 357,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1074,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872150.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SIRT2",
          "gene_hgnc_id": 10886,
          "hgvs_c": "c.-49+2430C>A",
          "hgvs_p": null,
          "transcript": "NM_030593.3",
          "protein_id": "NP_085096.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 352,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1059,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_030593.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SIRT2",
          "gene_hgnc_id": 10886,
          "hgvs_c": "c.63+1303C>A",
          "hgvs_p": null,
          "transcript": "ENST00000941837.1",
          "protein_id": "ENSP00000611896.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 351,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1056,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000941837.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SIRT2",
          "gene_hgnc_id": 10886,
          "hgvs_c": "c.16+2430C>A",
          "hgvs_p": null,
          "transcript": "ENST00000872145.1",
          "protein_id": "ENSP00000542204.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 319,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 960,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872145.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SIRT2",
          "gene_hgnc_id": 10886,
          "hgvs_c": "c.16+2430C>A",
          "hgvs_p": null,
          "transcript": "ENST00000941836.1",
          "protein_id": "ENSP00000611895.1",
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          "aa_length": 318,
          "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,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "intron_rank": 1,
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          "gene_symbol": "SIRT2",
          "gene_hgnc_id": 10886,
          "hgvs_c": "c.16+2430C>A",
          "hgvs_p": null,
          "transcript": "ENST00000872148.1",
          "protein_id": "ENSP00000542207.1",
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          "cds_start": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 13,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SIRT2",
          "gene_hgnc_id": 10886,
          "hgvs_c": "c.-49+1303C>A",
          "hgvs_p": null,
          "transcript": "ENST00000414941.5",
          "protein_id": "ENSP00000404309.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 236,
          "cds_start": null,
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          "cdna_start": null,
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        },
        {
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          "gene_symbol": "SIRT2",
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          "transcript": "NM_001193286.2",
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          "cds_start": null,
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          "biotype": "protein_coding",
          "feature": "NM_001193286.2"
        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
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          "intron_rank": 1,
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          "gene_symbol": "SIRT2",
          "gene_hgnc_id": 10886,
          "hgvs_c": "c.-49+2430C>A",
          "hgvs_p": null,
          "transcript": "ENST00000358931.9",
          "protein_id": "ENSP00000351809.6",
          "transcript_support_level": 5,
          "aa_start": null,
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          "cds_start": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "exon_count": 9,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SIRT2",
          "gene_hgnc_id": 10886,
          "hgvs_c": "c.-49+1718C>A",
          "hgvs_p": null,
          "transcript": "ENST00000407552.5",
          "protein_id": "ENSP00000385146.1",
          "transcript_support_level": 2,
          "aa_start": null,
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          "aa_length": 168,
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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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        },
        {
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          "gene_symbol": "SIRT2",
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          "hgvs_c": "c.-180+2430C>A",
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          "biotype": "protein_coding",
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        {
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          ],
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          "exon_count": 5,
          "intron_rank": 1,
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          "gene_symbol": "SIRT2",
          "gene_hgnc_id": 10886,
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          "transcript": "ENST00000447739.1",
          "protein_id": "ENSP00000408023.1",
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          "biotype": "protein_coding",
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        },
        {
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 15,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SIRT2",
          "gene_hgnc_id": 10886,
          "hgvs_c": "c.-49+280C>A",
          "hgvs_p": null,
          "transcript": "XM_047438468.1",
          "protein_id": "XP_047294424.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 352,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1059,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047438468.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
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      "hom_count_reference_population": 0,
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      "gnomad_exomes_af": null,
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      "gnomad_exomes_ac": null,
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      "gnomad_exomes_homalt": null,
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      "gnomad_mito_homoplasmic": null,
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      "computational_score_selected": -0.8899999856948853,
      "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": -0.89,
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      "phylop100way_score": 0.34,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
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      "acmg_score": -2,
      "acmg_classification": "Likely_benign",
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      "acmg_by_gene": [
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          "score": -2,
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          "pathogenic_score": 2,
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            "BP4_Strong"
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          "verdict": "Likely_benign",
          "transcript": "NM_012237.4",
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        {
          "score": -2,
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            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000808427.1",
          "gene_symbol": "ENSG00000305081",
          "hgnc_id": null,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.208-77G>T",
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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
}