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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: 14-61726740-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=61726740&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "14",
      "pos": 61726740,
      "ref": "G",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_001530.4",
      "consequences": [
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HIF1A",
          "gene_hgnc_id": 4910,
          "hgvs_c": "c.492G>C",
          "hgvs_p": "p.Gln164His",
          "transcript": "NM_001530.4",
          "protein_id": "NP_001521.1",
          "transcript_support_level": null,
          "aa_start": 164,
          "aa_end": null,
          "aa_length": 826,
          "cds_start": 492,
          "cds_end": null,
          "cds_length": 2481,
          "cdna_start": 784,
          "cdna_end": null,
          "cdna_length": 3946,
          "mane_select": "ENST00000337138.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HIF1A",
          "gene_hgnc_id": 4910,
          "hgvs_c": "c.492G>C",
          "hgvs_p": "p.Gln164His",
          "transcript": "ENST00000337138.9",
          "protein_id": "ENSP00000338018.4",
          "transcript_support_level": 1,
          "aa_start": 164,
          "aa_end": null,
          "aa_length": 826,
          "cds_start": 492,
          "cds_end": null,
          "cds_length": 2481,
          "cdna_start": 784,
          "cdna_end": null,
          "cdna_length": 3946,
          "mane_select": "NM_001530.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HIF1A",
          "gene_hgnc_id": 4910,
          "hgvs_c": "c.564G>C",
          "hgvs_p": "p.Gln188His",
          "transcript": "ENST00000539097.2",
          "protein_id": "ENSP00000437955.1",
          "transcript_support_level": 1,
          "aa_start": 188,
          "aa_end": null,
          "aa_length": 850,
          "cds_start": 564,
          "cds_end": null,
          "cds_length": 2553,
          "cdna_start": 793,
          "cdna_end": null,
          "cdna_length": 3956,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HIF1A",
          "gene_hgnc_id": 4910,
          "hgvs_c": "c.495G>C",
          "hgvs_p": "p.Gln165His",
          "transcript": "ENST00000394997.5",
          "protein_id": "ENSP00000378446.1",
          "transcript_support_level": 1,
          "aa_start": 165,
          "aa_end": null,
          "aa_length": 827,
          "cds_start": 495,
          "cds_end": null,
          "cds_length": 2484,
          "cdna_start": 760,
          "cdna_end": null,
          "cdna_length": 3922,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HIF1A",
          "gene_hgnc_id": 4910,
          "hgvs_c": "c.492G>C",
          "hgvs_p": "p.Gln164His",
          "transcript": "ENST00000323441.10",
          "protein_id": "ENSP00000323326.6",
          "transcript_support_level": 1,
          "aa_start": 164,
          "aa_end": null,
          "aa_length": 735,
          "cds_start": 492,
          "cds_end": null,
          "cds_length": 2208,
          "cdna_start": 520,
          "cdna_end": null,
          "cdna_length": 3555,
          "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": 5,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HIF1A",
          "gene_hgnc_id": 4910,
          "hgvs_c": "n.793G>C",
          "hgvs_p": null,
          "transcript": "ENST00000557538.5",
          "protein_id": null,
          "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": 3468,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HIF1A",
          "gene_hgnc_id": 4910,
          "hgvs_c": "c.564G>C",
          "hgvs_p": "p.Gln188His",
          "transcript": "NM_001243084.2",
          "protein_id": "NP_001230013.1",
          "transcript_support_level": null,
          "aa_start": 188,
          "aa_end": null,
          "aa_length": 850,
          "cds_start": 564,
          "cds_end": null,
          "cds_length": 2553,
          "cdna_start": 703,
          "cdna_end": null,
          "cdna_length": 3865,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HIF1A",
          "gene_hgnc_id": 4910,
          "hgvs_c": "c.492G>C",
          "hgvs_p": "p.Gln164His",
          "transcript": "NM_181054.3",
          "protein_id": "NP_851397.1",
          "transcript_support_level": null,
          "aa_start": 164,
          "aa_end": null,
          "aa_length": 735,
          "cds_start": 492,
          "cds_end": null,
          "cds_length": 2208,
          "cdna_start": 784,
          "cdna_end": null,
          "cdna_length": 3819,
          "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": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HIF1A",
          "gene_hgnc_id": 4910,
          "hgvs_c": "n.593G>C",
          "hgvs_p": null,
          "transcript": "ENST00000553999.5",
          "protein_id": null,
          "transcript_support_level": 4,
          "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": 616,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HIF1A",
          "gene_hgnc_id": 4910,
          "hgvs_c": "n.320G>C",
          "hgvs_p": null,
          "transcript": "ENST00000556237.1",
          "protein_id": null,
          "transcript_support_level": 4,
          "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": 595,
          "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": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HIF1A",
          "gene_hgnc_id": 4910,
          "hgvs_c": "n.509G>C",
          "hgvs_p": null,
          "transcript": "ENST00000557206.1",
          "protein_id": null,
          "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": 767,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "HIF1A-AS3",
          "gene_hgnc_id": null,
          "hgvs_c": "n.280-9723C>G",
          "hgvs_p": null,
          "transcript": "ENST00000554254.3",
          "protein_id": null,
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "HIF1A-AS3",
          "gene_hgnc_id": null,
          "hgvs_c": "n.216-12738C>G",
          "hgvs_p": null,
          "transcript": "ENST00000660325.2",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
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          "cdna_length": 1783,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "HIF1A-AS3",
          "gene_hgnc_id": null,
          "hgvs_c": "n.37-9723C>G",
          "hgvs_p": null,
          "transcript": "ENST00000698324.1",
          "protein_id": null,
          "transcript_support_level": null,
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          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
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          "cdna_length": 1309,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "HIF1A-AS3",
          "gene_hgnc_id": null,
          "hgvs_c": "n.215-9723C>G",
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          "transcript": "ENST00000698325.1",
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        },
        {
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "HIF1A-AS3",
          "gene_hgnc_id": null,
          "hgvs_c": "n.240-6138C>G",
          "hgvs_p": null,
          "transcript": "ENST00000698327.2",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "HIF1A-AS3",
          "gene_hgnc_id": null,
          "hgvs_c": "n.158-9728C>G",
          "hgvs_p": null,
          "transcript": "ENST00000698331.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "HIF1A-AS3",
          "gene_hgnc_id": null,
          "hgvs_c": "n.96-9723C>G",
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          "transcript": "ENST00000698332.1",
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        {
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          "canonical": false,
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          "consequences": [
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          ],
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          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "HIF1A-AS3",
          "gene_hgnc_id": null,
          "hgvs_c": "n.159-12738C>G",
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          "transcript": "ENST00000698333.1",
          "protein_id": null,
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          "cdna_length": 273,
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        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "HIF1A-AS3",
          "gene_hgnc_id": null,
          "hgvs_c": "n.173-9728C>G",
          "hgvs_p": null,
          "transcript": "ENST00000698334.1",
          "protein_id": null,
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          "cdna_start": null,
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          "cdna_length": 508,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "HIF1A-AS3",
          "gene_hgnc_id": null,
          "hgvs_c": "n.153+24145C>G",
          "hgvs_p": null,
          "transcript": "ENST00000715697.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 941,
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        {
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        },
        {
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          ],
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          "gene_symbol": "HIF1A-AS3",
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          "hgvs_c": "n.214-9723C>G",
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          "cdna_length": 533,
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        }
      ],
      "gene_symbol": "HIF1A",
      "gene_hgnc_id": 4910,
      "dbsnp": "rs749381048",
      "frequency_reference_population": 0.000013140604,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 2,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.0000131406,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 2,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.18111974000930786,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.05000000074505806,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.12,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.2022,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.48,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 1.087,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.05,
      "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": "NM_001530.4",
          "gene_symbol": "HIF1A",
          "hgnc_id": 4910,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.492G>C",
          "hgvs_p": "p.Gln164His"
        },
        {
          "score": 0,
          "benign_score": 2,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000554254.3",
          "gene_symbol": "HIF1A-AS3",
          "hgnc_id": null,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.280-9723C>G",
          "hgvs_p": null
        }
      ],
      "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
}