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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: 15-89317455-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=89317455&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "15",
      "pos": 89317455,
      "ref": "G",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "ENST00000268124.11",
      "consequences": [
        {
          "aa_ref": "C",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "c.3564C>T",
          "hgvs_p": "p.Cys1188Cys",
          "transcript": "NM_002693.3",
          "protein_id": "NP_002684.1",
          "transcript_support_level": null,
          "aa_start": 1188,
          "aa_end": null,
          "aa_length": 1239,
          "cds_start": 3564,
          "cds_end": null,
          "cds_length": 3720,
          "cdna_start": 3875,
          "cdna_end": null,
          "cdna_length": 4462,
          "mane_select": "ENST00000268124.11",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "C",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "c.3564C>T",
          "hgvs_p": "p.Cys1188Cys",
          "transcript": "ENST00000268124.11",
          "protein_id": "ENSP00000268124.5",
          "transcript_support_level": 1,
          "aa_start": 1188,
          "aa_end": null,
          "aa_length": 1239,
          "cds_start": 3564,
          "cds_end": null,
          "cds_length": 3720,
          "cdna_start": 3875,
          "cdna_end": null,
          "cdna_length": 4462,
          "mane_select": "NM_002693.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "c.3564C>T",
          "hgvs_p": "p.Cys1188Cys",
          "transcript": "ENST00000442287.6",
          "protein_id": "ENSP00000399851.2",
          "transcript_support_level": 1,
          "aa_start": 1188,
          "aa_end": null,
          "aa_length": 1239,
          "cds_start": 3564,
          "cds_end": null,
          "cds_length": 3720,
          "cdna_start": 3900,
          "cdna_end": null,
          "cdna_length": 4487,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "c.3564C>T",
          "hgvs_p": "p.Cys1188Cys",
          "transcript": "NM_001126131.2",
          "protein_id": "NP_001119603.1",
          "transcript_support_level": null,
          "aa_start": 1188,
          "aa_end": null,
          "aa_length": 1239,
          "cds_start": 3564,
          "cds_end": null,
          "cds_length": 3720,
          "cdna_start": 3863,
          "cdna_end": null,
          "cdna_length": 4450,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "c.3564C>T",
          "hgvs_p": "p.Cys1188Cys",
          "transcript": "ENST00000636937.2",
          "protein_id": "ENSP00000516154.1",
          "transcript_support_level": 5,
          "aa_start": 1188,
          "aa_end": null,
          "aa_length": 1239,
          "cds_start": 3564,
          "cds_end": null,
          "cds_length": 3720,
          "cdna_start": 4508,
          "cdna_end": null,
          "cdna_length": 5095,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "c.2574C>T",
          "hgvs_p": "p.Cys858Cys",
          "transcript": "ENST00000637264.1",
          "protein_id": "ENSP00000489844.1",
          "transcript_support_level": 5,
          "aa_start": 858,
          "aa_end": null,
          "aa_length": 909,
          "cds_start": 2574,
          "cds_end": null,
          "cds_length": 2730,
          "cdna_start": 2576,
          "cdna_end": null,
          "cdna_length": 3153,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "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": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "n.374C>T",
          "hgvs_p": null,
          "transcript": "ENST00000526671.1",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": 764,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "n.*156C>T",
          "hgvs_p": null,
          "transcript": "ENST00000530292.3",
          "protein_id": "ENSP00000432885.2",
          "transcript_support_level": 5,
          "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": 3843,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "n.*2988C>T",
          "hgvs_p": null,
          "transcript": "ENST00000631044.2",
          "protein_id": "ENSP00000486730.1",
          "transcript_support_level": 5,
          "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": 4668,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "n.*634C>T",
          "hgvs_p": null,
          "transcript": "ENST00000635986.2",
          "protein_id": "ENSP00000490653.2",
          "transcript_support_level": 5,
          "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": 4388,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "n.*2168C>T",
          "hgvs_p": null,
          "transcript": "ENST00000636774.1",
          "protein_id": "ENSP00000489799.1",
          "transcript_support_level": 5,
          "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": 4151,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "n.88C>T",
          "hgvs_p": null,
          "transcript": "ENST00000637042.1",
          "protein_id": null,
          "transcript_support_level": 5,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 100,
          "mane_select": null,
          "mane_plus": null,
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          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "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": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "n.*1770C>T",
          "hgvs_p": null,
          "transcript": "ENST00000637238.1",
          "protein_id": "ENSP00000490756.1",
          "transcript_support_level": 5,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 3022,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "n.*2206C>T",
          "hgvs_p": null,
          "transcript": "ENST00000666746.1",
          "protein_id": "ENSP00000499495.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3698,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
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          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "n.4766C>T",
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          "transcript": "ENST00000672071.1",
          "protein_id": null,
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          "cdna_length": 5318,
          "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": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "n.1343C>T",
          "hgvs_p": null,
          "transcript": "ENST00000672695.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 1930,
          "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": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "n.3564C>T",
          "hgvs_p": null,
          "transcript": "ENST00000672923.2",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "cdna_start": null,
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          "cdna_length": 4130,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "n.*156C>T",
          "hgvs_p": null,
          "transcript": "ENST00000530292.3",
          "protein_id": "ENSP00000432885.2",
          "transcript_support_level": 5,
          "aa_start": null,
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          "mane_select": null,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
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          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "n.*2988C>T",
          "hgvs_p": null,
          "transcript": "ENST00000631044.2",
          "protein_id": "ENSP00000486730.1",
          "transcript_support_level": 5,
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          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "n.*634C>T",
          "hgvs_p": null,
          "transcript": "ENST00000635986.2",
          "protein_id": "ENSP00000490653.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4388,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "n.*2168C>T",
          "hgvs_p": null,
          "transcript": "ENST00000636774.1",
          "protein_id": "ENSP00000489799.1",
          "transcript_support_level": 5,
          "aa_start": null,
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        {
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          "transcript": "XM_047432833.1",
          "protein_id": "XP_047288789.1",
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      ],
      "gene_symbol": "POLG",
      "gene_hgnc_id": 9179,
      "dbsnp": "rs146584956",
      "frequency_reference_population": 0.00004709329,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 76,
      "gnomad_exomes_af": 0.0000492572,
      "gnomad_genomes_af": 0.0000262981,
      "gnomad_exomes_ac": 72,
      "gnomad_genomes_ac": 4,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.4699999988079071,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.47,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 3.658,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "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": -5,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "BP4_Strong,BP6",
      "acmg_by_gene": [
        {
          "score": -5,
          "benign_score": 5,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000268124.11",
          "gene_symbol": "POLG",
          "hgnc_id": 9179,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AR,AD",
          "hgvs_c": "c.3564C>T",
          "hgvs_p": "p.Cys1188Cys"
        },
        {
          "score": -5,
          "benign_score": 5,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_018193.3",
          "gene_symbol": "FANCI",
          "hgnc_id": 25568,
          "effects": [
            "downstream_gene_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.*996G>A",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "Hereditary spastic paraplegia,Progressive sclerosing poliodystrophy,not provided,not specified",
      "clinvar_classification": "Conflicting classifications of pathogenicity",
      "clinvar_review_status": "criteria provided, conflicting classifications",
      "clinvar_submissions_summary": "US:2 LB:2 B:1",
      "phenotype_combined": "not specified|Progressive sclerosing poliodystrophy|Hereditary spastic paraplegia|not provided",
      "pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
      "custom_annotations": null
    }
  ],
  "message": null
}