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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: 19-35248970-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=35248970&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "19",
      "pos": 35248970,
      "ref": "C",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "ENST00000621372.4",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LSR",
          "gene_hgnc_id": 29572,
          "hgvs_c": "c.92C>A",
          "hgvs_p": "p.Pro31His",
          "transcript": "ENST00000621372.4",
          "protein_id": "ENSP00000480821.1",
          "transcript_support_level": 1,
          "aa_start": 31,
          "aa_end": null,
          "aa_length": 649,
          "cds_start": 92,
          "cds_end": null,
          "cds_length": 1950,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000621372.4"
        },
        {
          "aa_ref": "P",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LSR",
          "gene_hgnc_id": 29572,
          "hgvs_c": "c.92C>A",
          "hgvs_p": "p.Pro31His",
          "transcript": "ENST00000347609.8",
          "protein_id": "ENSP00000262627.3",
          "transcript_support_level": 1,
          "aa_start": 31,
          "aa_end": null,
          "aa_length": 591,
          "cds_start": 92,
          "cds_end": null,
          "cds_length": 1776,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000347609.8"
        },
        {
          "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": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LSR",
          "gene_hgnc_id": 29572,
          "hgvs_c": "c.-53C>A",
          "hgvs_p": null,
          "transcript": "ENST00000361790.7",
          "protein_id": "ENSP00000354575.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 601,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1806,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000361790.7"
        },
        {
          "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": "LSR",
          "gene_hgnc_id": 29572,
          "hgvs_c": "c.-53C>A",
          "hgvs_p": null,
          "transcript": "ENST00000354900.7",
          "protein_id": "ENSP00000346976.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 582,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1749,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000354900.7"
        },
        {
          "aa_ref": "P",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LSR",
          "gene_hgnc_id": 29572,
          "hgvs_c": "c.92C>A",
          "hgvs_p": "p.Pro31His",
          "transcript": "ENST00000602003.1",
          "protein_id": "ENSP00000471486.1",
          "transcript_support_level": 4,
          "aa_start": 31,
          "aa_end": null,
          "aa_length": 50,
          "cds_start": 92,
          "cds_end": null,
          "cds_length": 154,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000602003.1"
        },
        {
          "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": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LSR",
          "gene_hgnc_id": 29572,
          "hgvs_c": "c.-53C>A",
          "hgvs_p": null,
          "transcript": "ENST00000863865.1",
          "protein_id": "ENSP00000533924.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 600,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1803,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000863865.1"
        },
        {
          "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": "LSR",
          "gene_hgnc_id": 29572,
          "hgvs_c": "c.-53C>A",
          "hgvs_p": null,
          "transcript": "ENST00000602122.5",
          "protein_id": "ENSP00000472569.2",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 581,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1746,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000602122.5"
        },
        {
          "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": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LSR",
          "gene_hgnc_id": 29572,
          "hgvs_c": "c.-53C>A",
          "hgvs_p": null,
          "transcript": "ENST00000920054.1",
          "protein_id": "ENSP00000590113.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 562,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1689,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000920054.1"
        },
        {
          "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": "LSR",
          "gene_hgnc_id": 29572,
          "hgvs_c": "c.-53C>A",
          "hgvs_p": null,
          "transcript": "ENST00000863867.1",
          "protein_id": "ENSP00000533926.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 561,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1686,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000863867.1"
        },
        {
          "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": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LSR",
          "gene_hgnc_id": 29572,
          "hgvs_c": "c.-53C>A",
          "hgvs_p": null,
          "transcript": "ENST00000863868.1",
          "protein_id": "ENSP00000533927.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 542,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1629,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000863868.1"
        },
        {
          "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": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LSR",
          "gene_hgnc_id": 29572,
          "hgvs_c": "c.-53C>A",
          "hgvs_p": null,
          "transcript": "ENST00000360798.7",
          "protein_id": "ENSP00000354034.3",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 533,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1602,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000360798.7"
        },
        {
          "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": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LSR",
          "gene_hgnc_id": 29572,
          "hgvs_c": "c.-53C>A",
          "hgvs_p": null,
          "transcript": "ENST00000863866.1",
          "protein_id": "ENSP00000533925.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 532,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1599,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000863866.1"
        },
        {
          "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": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LSR",
          "gene_hgnc_id": 29572,
          "hgvs_c": "c.-53C>A",
          "hgvs_p": null,
          "transcript": "ENST00000863869.1",
          "protein_id": "ENSP00000533928.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 492,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1479,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000863869.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "LSR",
          "gene_hgnc_id": 29572,
          "hgvs_c": "n.173+468C>A",
          "hgvs_p": null,
          "transcript": "ENST00000597933.5",
          "protein_id": null,
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000597933.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LSR",
          "gene_hgnc_id": 29572,
          "hgvs_c": "c.-53C>A",
          "hgvs_p": null,
          "transcript": "NM_205834.4",
          "protein_id": "NP_991403.2",
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          "aa_start": null,
          "aa_end": null,
          "aa_length": 601,
          "cds_start": null,
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          "cds_length": 1806,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000605618.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_205834.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LSR",
          "gene_hgnc_id": 29572,
          "hgvs_c": "c.-53C>A",
          "hgvs_p": null,
          "transcript": "ENST00000605618.6",
          "protein_id": "ENSP00000474797.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 601,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1806,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_205834.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000605618.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LSR",
          "gene_hgnc_id": 29572,
          "hgvs_c": "c.-53C>A",
          "hgvs_p": null,
          "transcript": "ENST00000920056.1",
          "protein_id": "ENSP00000590115.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 679,
          "cds_start": null,
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          "cds_length": 2040,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000920056.1"
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LSR",
          "gene_hgnc_id": 29572,
          "hgvs_c": "c.-53C>A",
          "hgvs_p": null,
          "transcript": "ENST00000863881.1",
          "protein_id": "ENSP00000533940.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000863881.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LSR",
          "gene_hgnc_id": 29572,
          "hgvs_c": "c.-53C>A",
          "hgvs_p": null,
          "transcript": "ENST00000863872.1",
          "protein_id": "ENSP00000533931.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 599,
          "cds_start": null,
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          "cds_length": 1800,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000863872.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LSR",
          "gene_hgnc_id": 29572,
          "hgvs_c": "c.-53C>A",
          "hgvs_p": null,
          "transcript": "ENST00000863876.1",
          "protein_id": "ENSP00000533935.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 590,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1773,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000863876.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
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          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000602044.2"
        }
      ],
      "gene_symbol": "LSR",
      "gene_hgnc_id": 29572,
      "dbsnp": "rs906950982",
      "frequency_reference_population": 0.000008056789,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 13,
      "gnomad_exomes_af": 0.00000547446,
      "gnomad_genomes_af": 0.0000328485,
      "gnomad_exomes_ac": 8,
      "gnomad_genomes_ac": 5,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.23167714476585388,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.10999999940395355,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.125,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.1367,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.34,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 3.214,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.11,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 0,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,BP4_Moderate",
      "acmg_by_gene": [
        {
          "score": 0,
          "benign_score": 2,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000621372.4",
          "gene_symbol": "LSR",
          "hgnc_id": 29572,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.92C>A",
          "hgvs_p": "p.Pro31His"
        }
      ],
      "clinvar_disease": "not specified",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}