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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: 15-89247648-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=89247648&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "15",
      "pos": 89247648,
      "ref": "A",
      "alt": "G",
      "effect": "start_lost",
      "transcript": "NM_001113378.2",
      "consequences": [
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.1A>G",
          "hgvs_p": "p.Met1?",
          "transcript": "NM_001113378.2",
          "protein_id": "NP_001106849.1",
          "transcript_support_level": null,
          "aa_start": 1,
          "aa_end": null,
          "aa_length": 1328,
          "cds_start": 1,
          "cds_end": null,
          "cds_length": 3987,
          "cdna_start": 75,
          "cdna_end": null,
          "cdna_length": 4733,
          "mane_select": "ENST00000310775.12",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.1A>G",
          "hgvs_p": "p.Met1?",
          "transcript": "ENST00000310775.12",
          "protein_id": "ENSP00000310842.8",
          "transcript_support_level": 1,
          "aa_start": 1,
          "aa_end": null,
          "aa_length": 1328,
          "cds_start": 1,
          "cds_end": null,
          "cds_length": 3987,
          "cdna_start": 75,
          "cdna_end": null,
          "cdna_length": 4733,
          "mane_select": "NM_001113378.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.1A>G",
          "hgvs_p": "p.Met1?",
          "transcript": "ENST00000567996.5",
          "protein_id": "ENSP00000458024.1",
          "transcript_support_level": 1,
          "aa_start": 1,
          "aa_end": null,
          "aa_length": 252,
          "cds_start": 1,
          "cds_end": null,
          "cds_length": 759,
          "cdna_start": 272,
          "cdna_end": null,
          "cdna_length": 1070,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.1A>G",
          "hgvs_p": "p.Met1?",
          "transcript": "ENST00000674831.1",
          "protein_id": "ENSP00000502474.1",
          "transcript_support_level": null,
          "aa_start": 1,
          "aa_end": null,
          "aa_length": 1372,
          "cds_start": 1,
          "cds_end": null,
          "cds_length": 4119,
          "cdna_start": 109,
          "cdna_end": null,
          "cdna_length": 4239,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.1A>G",
          "hgvs_p": "p.Met1?",
          "transcript": "NM_001376911.1",
          "protein_id": "NP_001363840.1",
          "transcript_support_level": null,
          "aa_start": 1,
          "aa_end": null,
          "aa_length": 1328,
          "cds_start": 1,
          "cds_end": null,
          "cds_length": 3987,
          "cdna_start": 86,
          "cdna_end": null,
          "cdna_length": 4744,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.1A>G",
          "hgvs_p": "p.Met1?",
          "transcript": "ENST00000696719.1",
          "protein_id": "ENSP00000512832.1",
          "transcript_support_level": null,
          "aa_start": 1,
          "aa_end": null,
          "aa_length": 1328,
          "cds_start": 1,
          "cds_end": null,
          "cds_length": 3987,
          "cdna_start": 177,
          "cdna_end": null,
          "cdna_length": 4784,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.1A>G",
          "hgvs_p": "p.Met1?",
          "transcript": "ENST00000676003.1",
          "protein_id": "ENSP00000502254.1",
          "transcript_support_level": null,
          "aa_start": 1,
          "aa_end": null,
          "aa_length": 1314,
          "cds_start": 1,
          "cds_end": null,
          "cds_length": 3945,
          "cdna_start": 184,
          "cdna_end": null,
          "cdna_length": 4503,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.1A>G",
          "hgvs_p": "p.Met1?",
          "transcript": "NM_018193.3",
          "protein_id": "NP_060663.2",
          "transcript_support_level": null,
          "aa_start": 1,
          "aa_end": null,
          "aa_length": 1268,
          "cds_start": 1,
          "cds_end": null,
          "cds_length": 3807,
          "cdna_start": 75,
          "cdna_end": null,
          "cdna_length": 4681,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.1A>G",
          "hgvs_p": "p.Met1?",
          "transcript": "ENST00000300027.12",
          "protein_id": "ENSP00000300027.8",
          "transcript_support_level": 5,
          "aa_start": 1,
          "aa_end": null,
          "aa_length": 1268,
          "cds_start": 1,
          "cds_end": null,
          "cds_length": 3807,
          "cdna_start": 105,
          "cdna_end": null,
          "cdna_length": 4713,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.1A>G",
          "hgvs_p": "p.Met1?",
          "transcript": "ENST00000565255.5",
          "protein_id": "ENSP00000454371.1",
          "transcript_support_level": 3,
          "aa_start": 1,
          "aa_end": null,
          "aa_length": 225,
          "cds_start": 1,
          "cds_end": null,
          "cds_length": 680,
          "cdna_start": 75,
          "cdna_end": null,
          "cdna_length": 754,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.1A>G",
          "hgvs_p": "p.Met1?",
          "transcript": "ENST00000563250.5",
          "protein_id": "ENSP00000457029.1",
          "transcript_support_level": 5,
          "aa_start": 1,
          "aa_end": null,
          "aa_length": 214,
          "cds_start": 1,
          "cds_end": null,
          "cds_length": 647,
          "cdna_start": 54,
          "cdna_end": null,
          "cdna_length": 700,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.1A>G",
          "hgvs_p": "p.Met1?",
          "transcript": "ENST00000567891.5",
          "protein_id": "ENSP00000455735.1",
          "transcript_support_level": 3,
          "aa_start": 1,
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          "aa_length": 156,
          "cds_start": 1,
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          "cds_length": 472,
          "cdna_start": 113,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.1A>G",
          "hgvs_p": "p.Met1?",
          "transcript": "ENST00000564920.5",
          "protein_id": "ENSP00000456552.1",
          "transcript_support_level": 5,
          "aa_start": 1,
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          "cds_start": 1,
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          "cdna_start": 186,
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          "cdna_length": 562,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
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          ],
          "exon_rank": 2,
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          "exon_count": 38,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.1A>G",
          "hgvs_p": "p.Met1?",
          "transcript": "XM_011521756.3",
          "protein_id": "XP_011520058.1",
          "transcript_support_level": null,
          "aa_start": 1,
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          "aa_length": 1328,
          "cds_start": 1,
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          "cdna_start": 109,
          "cdna_end": null,
          "cdna_length": 4895,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost"
          ],
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          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": null,
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          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.1A>G",
          "hgvs_p": "p.Met1?",
          "transcript": "XM_047432789.1",
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": null,
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          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.1A>G",
          "hgvs_p": "p.Met1?",
          "transcript": "XM_047432790.1",
          "protein_id": "XP_047288746.1",
          "transcript_support_level": null,
          "aa_start": 1,
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          "aa_length": 1328,
          "cds_start": 1,
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          "cds_length": 3987,
          "cdna_start": 193,
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          "cdna_length": 4979,
          "mane_select": null,
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          "biotype": null,
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        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
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          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.1A>G",
          "hgvs_p": "p.Met1?",
          "transcript": "XM_047432791.1",
          "protein_id": "XP_047288747.1",
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          "cdna_start": 159,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
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            "start_lost"
          ],
          "exon_rank": 3,
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          "exon_count": 39,
          "intron_rank": null,
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          "gene_symbol": "FANCI",
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          "hgvs_c": "c.1A>G",
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          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
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          "transcript": "XM_047432793.1",
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        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
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          ],
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          "exon_count": 39,
          "intron_rank": null,
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          "gene_symbol": "FANCI",
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          "hgvs_c": "c.1A>G",
          "hgvs_p": "p.Met1?",
          "transcript": "XM_047432794.1",
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          "cds_length": 3987,
          "cdna_start": 170,
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          "cdna_length": 4956,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.1A>G",
          "hgvs_p": "p.Met1?",
          "transcript": "XM_047432795.1",
          "protein_id": "XP_047288751.1",
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          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "n.80A>G",
          "hgvs_p": null,
          "transcript": "ENST00000570110.1",
          "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": 528,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.-274A>G",
          "hgvs_p": null,
          "transcript": "NM_001376910.1",
          "protein_id": "NP_001363839.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1235,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3708,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4739,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.-274A>G",
          "hgvs_p": null,
          "transcript": "ENST00000696717.1",
          "protein_id": "ENSP00000512830.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1235,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3708,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4718,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.-406A>G",
          "hgvs_p": null,
          "transcript": "ENST00000696718.1",
          "protein_id": "ENSP00000512831.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1149,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3450,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4590,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "FANCI",
      "gene_hgnc_id": 25568,
      "dbsnp": "rs781249928",
      "frequency_reference_population": 0.0000013684215,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 2,
      "gnomad_exomes_af": 0.00000136842,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 2,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.9820878505706787,
      "computational_prediction_selected": "Pathogenic",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.634,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.27,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 3.077,
      "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": 10,
      "acmg_classification": "Pathogenic",
      "acmg_criteria": "PVS1,PM2",
      "acmg_by_gene": [
        {
          "score": 10,
          "benign_score": 0,
          "pathogenic_score": 10,
          "criteria": [
            "PVS1",
            "PM2"
          ],
          "verdict": "Pathogenic",
          "transcript": "NM_001113378.2",
          "gene_symbol": "FANCI",
          "hgnc_id": 25568,
          "effects": [
            "start_lost"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.1A>G",
          "hgvs_p": "p.Met1?"
        }
      ],
      "clinvar_disease": "Fanconi anemia,Fanconi anemia complementation group I",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "US:2",
      "phenotype_combined": "Fanconi anemia|Fanconi anemia complementation group I",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}