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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: X-72330078-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=72330078&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "X",
      "pos": 72330078,
      "ref": "T",
      "alt": "C",
      "effect": "splice_acceptor_variant,intron_variant",
      "transcript": "NM_001410725.1",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "HDAC8",
          "gene_hgnc_id": 13315,
          "hgvs_c": "c.1112-2A>G",
          "hgvs_p": null,
          "transcript": "NM_018486.3",
          "protein_id": "NP_060956.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 377,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1134,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000373573.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_018486.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "HDAC8",
          "gene_hgnc_id": 13315,
          "hgvs_c": "c.1112-2A>G",
          "hgvs_p": null,
          "transcript": "ENST00000373573.9",
          "protein_id": "ENSP00000362674.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 377,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1134,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_018486.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000373573.9"
        },
        {
          "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": 12,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000285547",
          "gene_hgnc_id": null,
          "hgvs_c": "c.1111+21655A>G",
          "hgvs_p": null,
          "transcript": "ENST00000648922.1",
          "protein_id": "ENSP00000497072.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 555,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1670,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000648922.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC8",
          "gene_hgnc_id": 13315,
          "hgvs_c": "c.*788A>G",
          "hgvs_p": null,
          "transcript": "ENST00000647859.1",
          "protein_id": "ENSP00000497530.1",
          "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": "ENST00000647859.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "HDAC8",
          "gene_hgnc_id": 13315,
          "hgvs_c": "c.1223-2A>G",
          "hgvs_p": null,
          "transcript": "ENST00000648452.1",
          "protein_id": "ENSP00000497268.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 414,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1245,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000648452.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "HDAC8",
          "gene_hgnc_id": 13315,
          "hgvs_c": "c.1190-2A>G",
          "hgvs_p": null,
          "transcript": "NM_001410725.1",
          "protein_id": "NP_001397654.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 403,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1212,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001410725.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "HDAC8",
          "gene_hgnc_id": 13315,
          "hgvs_c": "c.1190-2A>G",
          "hgvs_p": null,
          "transcript": "ENST00000647886.1",
          "protein_id": "ENSP00000497188.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 403,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1212,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000647886.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "HDAC8",
          "gene_hgnc_id": 13315,
          "hgvs_c": "c.1157-2A>G",
          "hgvs_p": null,
          "transcript": "ENST00000881225.1",
          "protein_id": "ENSP00000551284.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 392,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1179,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000881225.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "HDAC8",
          "gene_hgnc_id": 13315,
          "hgvs_c": "c.1112-2A>G",
          "hgvs_p": null,
          "transcript": "ENST00000881229.1",
          "protein_id": "ENSP00000551288.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 377,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1134,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000881229.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "HDAC8",
          "gene_hgnc_id": 13315,
          "hgvs_c": "c.1109-2A>G",
          "hgvs_p": null,
          "transcript": "ENST00000925427.1",
          "protein_id": "ENSP00000595486.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 376,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1131,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000925427.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "HDAC8",
          "gene_hgnc_id": 13315,
          "hgvs_c": "c.1106-2A>G",
          "hgvs_p": null,
          "transcript": "ENST00000647980.1",
          "protein_id": "ENSP00000498002.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 375,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1128,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000647980.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "HDAC8",
          "gene_hgnc_id": 13315,
          "hgvs_c": "c.*51-2A>G",
          "hgvs_p": null,
          "transcript": "ENST00000647594.1",
          "protein_id": "ENSP00000496814.1",
          "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": "ENST00000647594.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "HDAC8",
          "gene_hgnc_id": 13315,
          "hgvs_c": "c.1034-2A>G",
          "hgvs_p": null,
          "transcript": "NM_001410727.1",
          "protein_id": "NP_001397656.1",
          "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,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001410727.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "HDAC8",
          "gene_hgnc_id": 13315,
          "hgvs_c": "c.1034-2A>G",
          "hgvs_p": null,
          "transcript": "ENST00000373583.6",
          "protein_id": "ENSP00000362685.2",
          "transcript_support_level": 5,
          "aa_start": null,
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          "aa_length": 351,
          "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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        },
        {
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          "canonical": false,
          "protein_coding": true,
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            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "HDAC8",
          "gene_hgnc_id": 13315,
          "hgvs_c": "c.917-2A>G",
          "hgvs_p": null,
          "transcript": "NM_001410728.1",
          "protein_id": "NP_001397657.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 312,
          "cds_start": null,
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          "cds_length": 939,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001410728.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "HDAC8",
          "gene_hgnc_id": 13315,
          "hgvs_c": "c.917-2A>G",
          "hgvs_p": null,
          "transcript": "ENST00000647654.1",
          "protein_id": "ENSP00000497568.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 312,
          "cds_start": null,
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          "cds_length": 939,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000647654.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "HDAC8",
          "gene_hgnc_id": 13315,
          "hgvs_c": "c.890-2A>G",
          "hgvs_p": null,
          "transcript": "ENST00000881230.1",
          "protein_id": "ENSP00000551289.1",
          "transcript_support_level": null,
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          "cdna_start": null,
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        },
        {
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          "canonical": false,
          "protein_coding": true,
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          "consequences": [
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            "intron_variant"
          ],
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          "exon_count": 9,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "HDAC8",
          "gene_hgnc_id": 13315,
          "hgvs_c": "c.857-2A>G",
          "hgvs_p": null,
          "transcript": "ENST00000881227.1",
          "protein_id": "ENSP00000551286.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000881227.1"
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "HDAC8",
          "gene_hgnc_id": 13315,
          "hgvs_c": "c.839-2A>G",
          "hgvs_p": null,
          "transcript": "NM_001166418.2",
          "protein_id": "NP_001159890.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 286,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 861,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001166418.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "HDAC8",
          "gene_hgnc_id": 13315,
          "hgvs_c": "c.839-2A>G",
          "hgvs_p": null,
          "transcript": "ENST00000373589.9",
          "protein_id": "ENSP00000362691.4",
          "transcript_support_level": 2,
          "aa_start": null,
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      ],
      "gene_symbol": "HDAC8",
      "gene_hgnc_id": 13315,
      "dbsnp": "rs1131690790",
      "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,
      "computational_prediction_selected": "Uncertain_significance",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0.9259999990463257,
      "splice_prediction_selected": "Pathogenic",
      "splice_source_selected": "dbscSNV1_RF",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0,
      "bayesdelnoaf_prediction": "Uncertain_significance",
      "phylop100way_score": 4.176,
      "phylop100way_prediction": "Uncertain_significance",
      "spliceai_max_score": 0.94,
      "spliceai_max_prediction": "Pathogenic",
      "dbscsnv_ada_score": 0.999989917668626,
      "dbscsnv_ada_prediction": "Pathogenic",
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 6,
      "acmg_classification": "Likely_pathogenic",
      "acmg_criteria": "PVS1_Strong,PM2",
      "acmg_by_gene": [
        {
          "score": 6,
          "benign_score": 0,
          "pathogenic_score": 6,
          "criteria": [
            "PVS1_Strong",
            "PM2"
          ],
          "verdict": "Likely_pathogenic",
          "transcript": "NM_001410725.1",
          "gene_symbol": "HDAC8",
          "hgnc_id": 13315,
          "effects": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "inheritance_mode": "XL,AD",
          "hgvs_c": "c.1190-2A>G",
          "hgvs_p": null
        },
        {
          "score": 6,
          "benign_score": 0,
          "pathogenic_score": 6,
          "criteria": [
            "PM2",
            "PP3_Strong"
          ],
          "verdict": "Likely_pathogenic",
          "transcript": "ENST00000648922.1",
          "gene_symbol": "ENSG00000285547",
          "hgnc_id": null,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.1111+21655A>G",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "Cornelia de Lange syndrome 5",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "Cornelia de Lange syndrome 5",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}