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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: 2-241230153-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=241230153&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 241230153,
      "ref": "G",
      "alt": "A",
      "effect": "splice_region_variant,synonymous_variant",
      "transcript": "NM_005336.6",
      "consequences": [
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDLBP",
          "gene_hgnc_id": 4857,
          "hgvs_c": "c.3591C>T",
          "hgvs_p": "p.Tyr1197Tyr",
          "transcript": "NM_005336.6",
          "protein_id": "NP_005327.1",
          "transcript_support_level": null,
          "aa_start": 1197,
          "aa_end": null,
          "aa_length": 1268,
          "cds_start": 3591,
          "cds_end": null,
          "cds_length": 3807,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000310931.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_005336.6"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDLBP",
          "gene_hgnc_id": 4857,
          "hgvs_c": "c.3591C>T",
          "hgvs_p": "p.Tyr1197Tyr",
          "transcript": "ENST00000310931.10",
          "protein_id": "ENSP00000312042.4",
          "transcript_support_level": 1,
          "aa_start": 1197,
          "aa_end": null,
          "aa_length": 1268,
          "cds_start": 3591,
          "cds_end": null,
          "cds_length": 3807,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_005336.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000310931.10"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDLBP",
          "gene_hgnc_id": 4857,
          "hgvs_c": "c.3591C>T",
          "hgvs_p": "p.Tyr1197Tyr",
          "transcript": "ENST00000391975.5",
          "protein_id": "ENSP00000375836.1",
          "transcript_support_level": 1,
          "aa_start": 1197,
          "aa_end": null,
          "aa_length": 1268,
          "cds_start": 3591,
          "cds_end": null,
          "cds_length": 3807,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000391975.5"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDLBP",
          "gene_hgnc_id": 4857,
          "hgvs_c": "c.3705C>T",
          "hgvs_p": "p.Tyr1235Tyr",
          "transcript": "ENST00000875612.1",
          "protein_id": "ENSP00000545671.1",
          "transcript_support_level": null,
          "aa_start": 1235,
          "aa_end": null,
          "aa_length": 1306,
          "cds_start": 3705,
          "cds_end": null,
          "cds_length": 3921,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000875612.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDLBP",
          "gene_hgnc_id": 4857,
          "hgvs_c": "c.3594C>T",
          "hgvs_p": "p.Tyr1198Tyr",
          "transcript": "ENST00000875621.1",
          "protein_id": "ENSP00000545680.1",
          "transcript_support_level": null,
          "aa_start": 1198,
          "aa_end": null,
          "aa_length": 1269,
          "cds_start": 3594,
          "cds_end": null,
          "cds_length": 3810,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000875621.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDLBP",
          "gene_hgnc_id": 4857,
          "hgvs_c": "c.3594C>T",
          "hgvs_p": "p.Tyr1198Tyr",
          "transcript": "ENST00000944585.1",
          "protein_id": "ENSP00000614644.1",
          "transcript_support_level": null,
          "aa_start": 1198,
          "aa_end": null,
          "aa_length": 1269,
          "cds_start": 3594,
          "cds_end": null,
          "cds_length": 3810,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000944585.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDLBP",
          "gene_hgnc_id": 4857,
          "hgvs_c": "c.3591C>T",
          "hgvs_p": "p.Tyr1197Tyr",
          "transcript": "NM_001320965.3",
          "protein_id": "NP_001307894.1",
          "transcript_support_level": null,
          "aa_start": 1197,
          "aa_end": null,
          "aa_length": 1268,
          "cds_start": 3591,
          "cds_end": null,
          "cds_length": 3807,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001320965.3"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDLBP",
          "gene_hgnc_id": 4857,
          "hgvs_c": "c.3591C>T",
          "hgvs_p": "p.Tyr1197Tyr",
          "transcript": "NM_001320966.3",
          "protein_id": "NP_001307895.1",
          "transcript_support_level": null,
          "aa_start": 1197,
          "aa_end": null,
          "aa_length": 1268,
          "cds_start": 3591,
          "cds_end": null,
          "cds_length": 3807,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001320966.3"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDLBP",
          "gene_hgnc_id": 4857,
          "hgvs_c": "c.3591C>T",
          "hgvs_p": "p.Tyr1197Tyr",
          "transcript": "NM_203346.6",
          "protein_id": "NP_976221.1",
          "transcript_support_level": null,
          "aa_start": 1197,
          "aa_end": null,
          "aa_length": 1268,
          "cds_start": 3591,
          "cds_end": null,
          "cds_length": 3807,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_203346.6"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDLBP",
          "gene_hgnc_id": 4857,
          "hgvs_c": "c.3591C>T",
          "hgvs_p": "p.Tyr1197Tyr",
          "transcript": "ENST00000391976.6",
          "protein_id": "ENSP00000375837.2",
          "transcript_support_level": 5,
          "aa_start": 1197,
          "aa_end": null,
          "aa_length": 1268,
          "cds_start": 3591,
          "cds_end": null,
          "cds_length": 3807,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000391976.6"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDLBP",
          "gene_hgnc_id": 4857,
          "hgvs_c": "c.3591C>T",
          "hgvs_p": "p.Tyr1197Tyr",
          "transcript": "ENST00000875594.1",
          "protein_id": "ENSP00000545653.1",
          "transcript_support_level": null,
          "aa_start": 1197,
          "aa_end": null,
          "aa_length": 1268,
          "cds_start": 3591,
          "cds_end": null,
          "cds_length": 3807,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000875594.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDLBP",
          "gene_hgnc_id": 4857,
          "hgvs_c": "c.3591C>T",
          "hgvs_p": "p.Tyr1197Tyr",
          "transcript": "ENST00000875597.1",
          "protein_id": "ENSP00000545656.1",
          "transcript_support_level": null,
          "aa_start": 1197,
          "aa_end": null,
          "aa_length": 1268,
          "cds_start": 3591,
          "cds_end": null,
          "cds_length": 3807,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000875597.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDLBP",
          "gene_hgnc_id": 4857,
          "hgvs_c": "c.3591C>T",
          "hgvs_p": "p.Tyr1197Tyr",
          "transcript": "ENST00000875599.1",
          "protein_id": "ENSP00000545658.1",
          "transcript_support_level": null,
          "aa_start": 1197,
          "aa_end": null,
          "aa_length": 1268,
          "cds_start": 3591,
          "cds_end": null,
          "cds_length": 3807,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000875599.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDLBP",
          "gene_hgnc_id": 4857,
          "hgvs_c": "c.3591C>T",
          "hgvs_p": "p.Tyr1197Tyr",
          "transcript": "ENST00000875600.1",
          "protein_id": "ENSP00000545659.1",
          "transcript_support_level": null,
          "aa_start": 1197,
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          "cds_start": 3591,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000875600.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDLBP",
          "gene_hgnc_id": 4857,
          "hgvs_c": "c.3591C>T",
          "hgvs_p": "p.Tyr1197Tyr",
          "transcript": "ENST00000875609.1",
          "protein_id": "ENSP00000545668.1",
          "transcript_support_level": null,
          "aa_start": 1197,
          "aa_end": null,
          "aa_length": 1268,
          "cds_start": 3591,
          "cds_end": null,
          "cds_length": 3807,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000875609.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
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          "gene_symbol": "HDLBP",
          "gene_hgnc_id": 4857,
          "hgvs_c": "c.3591C>T",
          "hgvs_p": "p.Tyr1197Tyr",
          "transcript": "ENST00000875610.1",
          "protein_id": "ENSP00000545669.1",
          "transcript_support_level": null,
          "aa_start": 1197,
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          "aa_length": 1268,
          "cds_start": 3591,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000875610.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDLBP",
          "gene_hgnc_id": 4857,
          "hgvs_c": "c.3591C>T",
          "hgvs_p": "p.Tyr1197Tyr",
          "transcript": "ENST00000875611.1",
          "protein_id": "ENSP00000545670.1",
          "transcript_support_level": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000875611.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
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          "gene_symbol": "HDLBP",
          "gene_hgnc_id": 4857,
          "hgvs_c": "c.3591C>T",
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          "transcript": "ENST00000875613.1",
          "protein_id": "ENSP00000545672.1",
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          "biotype": "protein_coding",
          "feature": "ENST00000875613.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDLBP",
          "gene_hgnc_id": 4857,
          "hgvs_c": "c.3591C>T",
          "hgvs_p": "p.Tyr1197Tyr",
          "transcript": "ENST00000875614.1",
          "protein_id": "ENSP00000545673.1",
          "transcript_support_level": null,
          "aa_start": 1197,
          "aa_end": null,
          "aa_length": 1268,
          "cds_start": 3591,
          "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": "ENST00000875614.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
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          "cds_length": 3753,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "XM_047444078.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
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            "synonymous_variant"
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          "hgvs_c": "c.2299-9238G>A",
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          "transcript": "XM_017004229.2",
          "protein_id": "XP_016859718.2",
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          "cds_length": 2409,
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        {
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          "protein_coding": false,
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          "consequences": [
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          "exon_rank": 14,
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          "gene_symbol": "HDLBP",
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          "hgvs_c": "n.3410C>T",
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          "biotype": "retained_intron",
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        {
          "aa_ref": null,
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          "protein_coding": false,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
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          "exon_count": 2,
          "intron_rank": null,
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          "gene_symbol": "HDLBP",
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          "hgvs_c": "n.-170C>T",
          "hgvs_p": null,
          "transcript": "ENST00000494862.1",
          "protein_id": null,
          "transcript_support_level": 2,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "retained_intron",
          "feature": "ENST00000494862.1"
        },
        {
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          "protein_coding": false,
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          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
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          "exon_count": 2,
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          "gene_symbol": "HDLBP",
          "gene_hgnc_id": 4857,
          "hgvs_c": "n.*51C>T",
          "hgvs_p": null,
          "transcript": "ENST00000488013.1",
          "protein_id": null,
          "transcript_support_level": 2,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "retained_intron",
          "feature": "ENST00000488013.1"
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      ],
      "gene_symbol": "HDLBP",
      "gene_hgnc_id": 4857,
      "dbsnp": "rs369738368",
      "frequency_reference_population": 0.00007890218,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 127,
      "gnomad_exomes_af": 0.0000754765,
      "gnomad_genomes_af": 0.00011171,
      "gnomad_exomes_ac": 110,
      "gnomad_genomes_ac": 17,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.2370000034570694,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "REVEL",
      "splice_score_selected": 0.07999999821186066,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "dbscSNV1_RF",
      "revel_score": 0.237,
      "revel_prediction": "Benign",
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.66,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.51,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": 0.0016703202418506,
      "dbscsnv_ada_prediction": "Benign",
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -7,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4,BP6,BP7,BS2",
      "acmg_by_gene": [
        {
          "score": -7,
          "benign_score": 7,
          "pathogenic_score": 0,
          "criteria": [
            "BP4",
            "BP6",
            "BP7",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "NM_005336.6",
          "gene_symbol": "HDLBP",
          "hgnc_id": 4857,
          "effects": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.3591C>T",
          "hgvs_p": "p.Tyr1197Tyr"
        },
        {
          "score": -2,
          "benign_score": 2,
          "pathogenic_score": 0,
          "criteria": [
            "BP4",
            "BP6"
          ],
          "verdict": "Likely_benign",
          "transcript": "XM_011511267.3",
          "gene_symbol": "ANO7",
          "hgnc_id": 31677,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.2445-9238G>A",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "HDLBP-related disorder",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "no assertion criteria provided",
      "clinvar_submissions_summary": "null",
      "phenotype_combined": "HDLBP-related disorder",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}