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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: 5-112835075-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=112835075&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 112835075,
      "ref": "G",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "ENST00000257430.9",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.1868G>T",
          "hgvs_p": "p.Arg623Leu",
          "transcript": "NM_000038.6",
          "protein_id": "NP_000029.2",
          "transcript_support_level": null,
          "aa_start": 623,
          "aa_end": null,
          "aa_length": 2843,
          "cds_start": 1868,
          "cds_end": null,
          "cds_length": 8532,
          "cdna_start": 1927,
          "cdna_end": null,
          "cdna_length": 10704,
          "mane_select": "ENST00000257430.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.1868G>T",
          "hgvs_p": "p.Arg623Leu",
          "transcript": "ENST00000257430.9",
          "protein_id": "ENSP00000257430.4",
          "transcript_support_level": 5,
          "aa_start": 623,
          "aa_end": null,
          "aa_length": 2843,
          "cds_start": 1868,
          "cds_end": null,
          "cds_length": 8532,
          "cdna_start": 1927,
          "cdna_end": null,
          "cdna_length": 10704,
          "mane_select": "NM_000038.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.1868G>T",
          "hgvs_p": "p.Arg623Leu",
          "transcript": "ENST00000508376.6",
          "protein_id": "ENSP00000427089.2",
          "transcript_support_level": 1,
          "aa_start": 623,
          "aa_end": null,
          "aa_length": 2843,
          "cds_start": 1868,
          "cds_end": null,
          "cds_length": 8532,
          "cdna_start": 2025,
          "cdna_end": null,
          "cdna_length": 10619,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "n.*66G>T",
          "hgvs_p": null,
          "transcript": "ENST00000502371.3",
          "protein_id": "ENSP00000484935.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3942,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "n.*1190G>T",
          "hgvs_p": null,
          "transcript": "ENST00000508624.5",
          "protein_id": "ENSP00000424265.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7406,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "n.*66G>T",
          "hgvs_p": null,
          "transcript": "ENST00000502371.3",
          "protein_id": "ENSP00000484935.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3942,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "n.*1190G>T",
          "hgvs_p": null,
          "transcript": "ENST00000508624.5",
          "protein_id": "ENSP00000424265.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7406,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000258864",
          "gene_hgnc_id": null,
          "hgvs_c": "n.228+6103G>T",
          "hgvs_p": null,
          "transcript": "ENST00000520401.1",
          "protein_id": "ENSP00000454861.1",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 694,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.1952G>T",
          "hgvs_p": "p.Arg651Leu",
          "transcript": "NM_001407446.1",
          "protein_id": "NP_001394375.1",
          "transcript_support_level": null,
          "aa_start": 651,
          "aa_end": null,
          "aa_length": 2871,
          "cds_start": 1952,
          "cds_end": null,
          "cds_length": 8616,
          "cdna_start": 2172,
          "cdna_end": null,
          "cdna_length": 10949,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.1922G>T",
          "hgvs_p": "p.Arg641Leu",
          "transcript": "NM_001354896.2",
          "protein_id": "NP_001341825.1",
          "transcript_support_level": null,
          "aa_start": 641,
          "aa_end": null,
          "aa_length": 2861,
          "cds_start": 1922,
          "cds_end": null,
          "cds_length": 8586,
          "cdna_start": 1981,
          "cdna_end": null,
          "cdna_length": 10758,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.1922G>T",
          "hgvs_p": "p.Arg641Leu",
          "transcript": "NM_001407447.1",
          "protein_id": "NP_001394376.1",
          "transcript_support_level": null,
          "aa_start": 641,
          "aa_end": null,
          "aa_length": 2861,
          "cds_start": 1922,
          "cds_end": null,
          "cds_length": 8586,
          "cdna_start": 2325,
          "cdna_end": null,
          "cdna_length": 11102,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.1922G>T",
          "hgvs_p": "p.Arg641Leu",
          "transcript": "NM_001407448.1",
          "protein_id": "NP_001394377.1",
          "transcript_support_level": null,
          "aa_start": 641,
          "aa_end": null,
          "aa_length": 2861,
          "cds_start": 1922,
          "cds_end": null,
          "cds_length": 8586,
          "cdna_start": 2092,
          "cdna_end": null,
          "cdna_length": 10869,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.1922G>T",
          "hgvs_p": "p.Arg641Leu",
          "transcript": "NM_001407449.1",
          "protein_id": "NP_001394378.1",
          "transcript_support_level": null,
          "aa_start": 641,
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          "aa_length": 2861,
          "cds_start": 1922,
          "cds_end": null,
          "cds_length": 8586,
          "cdna_start": 2089,
          "cdna_end": null,
          "cdna_length": 10866,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.1922G>T",
          "hgvs_p": "p.Arg641Leu",
          "transcript": "ENST00000504915.3",
          "protein_id": "ENSP00000473355.2",
          "transcript_support_level": 5,
          "aa_start": 641,
          "aa_end": null,
          "aa_length": 2861,
          "cds_start": 1922,
          "cds_end": null,
          "cds_length": 8586,
          "cdna_start": 1978,
          "cdna_end": null,
          "cdna_length": 9496,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.1898G>T",
          "hgvs_p": "p.Arg633Leu",
          "transcript": "NM_001354897.2",
          "protein_id": "NP_001341826.1",
          "transcript_support_level": null,
          "aa_start": 633,
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          "cds_start": 1898,
          "cds_end": null,
          "cds_length": 8562,
          "cdna_start": 2118,
          "cdna_end": null,
          "cdna_length": 10895,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.1868G>T",
          "hgvs_p": "p.Arg623Leu",
          "transcript": "NM_001127510.3",
          "protein_id": "NP_001120982.1",
          "transcript_support_level": null,
          "aa_start": 623,
          "aa_end": null,
          "aa_length": 2843,
          "cds_start": 1868,
          "cds_end": null,
          "cds_length": 8532,
          "cdna_start": 2035,
          "cdna_end": null,
          "cdna_length": 10812,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.1868G>T",
          "hgvs_p": "p.Arg623Leu",
          "transcript": "NM_001354895.2",
          "protein_id": "NP_001341824.1",
          "transcript_support_level": null,
          "aa_start": 623,
          "aa_end": null,
          "aa_length": 2843,
          "cds_start": 1868,
          "cds_end": null,
          "cds_length": 8532,
          "cdna_start": 2271,
          "cdna_end": null,
          "cdna_length": 11048,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.1868G>T",
          "hgvs_p": "p.Arg623Leu",
          "transcript": "NM_001407450.1",
          "protein_id": "NP_001394379.1",
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          "aa_length": 2843,
          "cds_start": 1868,
          "cds_end": null,
          "cds_length": 8532,
          "cdna_start": 2038,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.1868G>T",
          "hgvs_p": "p.Arg623Leu",
          "transcript": "ENST00000509732.6",
          "protein_id": "ENSP00000426541.2",
          "transcript_support_level": 4,
          "aa_start": 623,
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          "cds_start": 1868,
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          "cdna_start": 2018,
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          "cdna_length": 10616,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.1868G>T",
          "hgvs_p": "p.Arg623Leu",
          "transcript": "ENST00000512211.7",
          "protein_id": "ENSP00000423828.3",
          "transcript_support_level": 2,
          "aa_start": 623,
          "aa_end": null,
          "aa_length": 2843,
          "cds_start": 1868,
          "cds_end": null,
          "cds_length": 8532,
          "cdna_start": 2219,
          "cdna_end": null,
          "cdna_length": 9737,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
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      ],
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      "dbsnp": "rs765557332",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.7641646862030029,
      "computational_prediction_selected": "Pathogenic",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.442,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": 0.6808,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.01,
      "bayesdelnoaf_prediction": "Uncertain_significance",
      "phylop100way_score": 7.671,
      "phylop100way_prediction": "Pathogenic",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
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      "apogee2_score": null,
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      "acmg_score": 3,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,PP3",
      "acmg_by_gene": [
        {
          "score": 3,
          "benign_score": 0,
          "pathogenic_score": 3,
          "criteria": [
            "PM2",
            "PP3"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000257430.9",
          "gene_symbol": "APC",
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          "effects": [
            "missense_variant"
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          "inheritance_mode": "AD,AR",
          "hgvs_c": "c.1868G>T",
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        {
          "score": 3,
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            "PP3"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000520401.1",
          "gene_symbol": "ENSG00000258864",
          "hgnc_id": null,
          "effects": [
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          ],
          "inheritance_mode": "",
          "hgvs_c": "n.228+6103G>T",
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      ],
      "clinvar_disease": "Familial adenomatous polyposis 1",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "Familial adenomatous polyposis 1",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}