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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-154532257-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154532257&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "X",
      "pos": 154532257,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "ENST00000393562.10",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "c.1388G>A",
          "hgvs_p": "p.Arg463His",
          "transcript": "NM_001360016.2",
          "protein_id": "NP_001346945.1",
          "transcript_support_level": null,
          "aa_start": 463,
          "aa_end": null,
          "aa_length": 515,
          "cds_start": 1388,
          "cds_end": null,
          "cds_length": 1548,
          "cdna_start": 1454,
          "cdna_end": null,
          "cdna_length": 2223,
          "mane_select": "ENST00000393562.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "c.1388G>A",
          "hgvs_p": "p.Arg463His",
          "transcript": "ENST00000393562.10",
          "protein_id": "ENSP00000377192.3",
          "transcript_support_level": 1,
          "aa_start": 463,
          "aa_end": null,
          "aa_length": 515,
          "cds_start": 1388,
          "cds_end": null,
          "cds_length": 1548,
          "cdna_start": 1454,
          "cdna_end": null,
          "cdna_length": 2223,
          "mane_select": "NM_001360016.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "c.1388G>A",
          "hgvs_p": "p.Arg463His",
          "transcript": "ENST00000696421.1",
          "protein_id": "ENSP00000512616.1",
          "transcript_support_level": null,
          "aa_start": 463,
          "aa_end": null,
          "aa_length": 581,
          "cds_start": 1388,
          "cds_end": null,
          "cds_length": 1746,
          "cdna_start": 1454,
          "cdna_end": null,
          "cdna_length": 2142,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "c.1526G>A",
          "hgvs_p": "p.Arg509His",
          "transcript": "ENST00000369620.6",
          "protein_id": "ENSP00000358633.2",
          "transcript_support_level": 5,
          "aa_start": 509,
          "aa_end": null,
          "aa_length": 561,
          "cds_start": 1526,
          "cds_end": null,
          "cds_length": 1686,
          "cdna_start": 1639,
          "cdna_end": null,
          "cdna_length": 1799,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "c.1478G>A",
          "hgvs_p": "p.Arg493His",
          "transcript": "NM_000402.4",
          "protein_id": "NP_000393.4",
          "transcript_support_level": null,
          "aa_start": 493,
          "aa_end": null,
          "aa_length": 545,
          "cds_start": 1478,
          "cds_end": null,
          "cds_length": 1638,
          "cdna_start": 1626,
          "cdna_end": null,
          "cdna_length": 2396,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "c.1391G>A",
          "hgvs_p": "p.Arg464His",
          "transcript": "ENST00000439227.6",
          "protein_id": "ENSP00000395599.2",
          "transcript_support_level": 5,
          "aa_start": 464,
          "aa_end": null,
          "aa_length": 516,
          "cds_start": 1391,
          "cds_end": null,
          "cds_length": 1551,
          "cdna_start": 1566,
          "cdna_end": null,
          "cdna_length": 2336,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "c.1388G>A",
          "hgvs_p": "p.Arg463His",
          "transcript": "NM_001042351.3",
          "protein_id": "NP_001035810.1",
          "transcript_support_level": null,
          "aa_start": 463,
          "aa_end": null,
          "aa_length": 515,
          "cds_start": 1388,
          "cds_end": null,
          "cds_length": 1548,
          "cdna_start": 1498,
          "cdna_end": null,
          "cdna_length": 2267,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "c.1388G>A",
          "hgvs_p": "p.Arg463His",
          "transcript": "ENST00000393564.7",
          "protein_id": "ENSP00000377194.2",
          "transcript_support_level": 5,
          "aa_start": 463,
          "aa_end": null,
          "aa_length": 515,
          "cds_start": 1388,
          "cds_end": null,
          "cds_length": 1548,
          "cdna_start": 1501,
          "cdna_end": null,
          "cdna_length": 2271,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "c.1388G>A",
          "hgvs_p": "p.Arg463His",
          "transcript": "ENST00000696429.1",
          "protein_id": "ENSP00000512624.1",
          "transcript_support_level": null,
          "aa_start": 463,
          "aa_end": null,
          "aa_length": 515,
          "cds_start": 1388,
          "cds_end": null,
          "cds_length": 1548,
          "cdna_start": 1597,
          "cdna_end": null,
          "cdna_length": 2359,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "c.1388G>A",
          "hgvs_p": "p.Arg463His",
          "transcript": "ENST00000696430.1",
          "protein_id": "ENSP00000512625.1",
          "transcript_support_level": null,
          "aa_start": 463,
          "aa_end": null,
          "aa_length": 515,
          "cds_start": 1388,
          "cds_end": null,
          "cds_length": 1548,
          "cdna_start": 1655,
          "cdna_end": null,
          "cdna_length": 2417,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "c.1388G>A",
          "hgvs_p": "p.Arg463His",
          "transcript": "ENST00000696420.1",
          "protein_id": "ENSP00000512615.1",
          "transcript_support_level": null,
          "aa_start": 463,
          "aa_end": null,
          "aa_length": 491,
          "cds_start": 1388,
          "cds_end": null,
          "cds_length": 1476,
          "cdna_start": 1454,
          "cdna_end": null,
          "cdna_length": 1995,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "c.1253G>A",
          "hgvs_p": "p.Arg418His",
          "transcript": "ENST00000696423.1",
          "protein_id": "ENSP00000512618.1",
          "transcript_support_level": null,
          "aa_start": 418,
          "aa_end": null,
          "aa_length": 470,
          "cds_start": 1253,
          "cds_end": null,
          "cds_length": 1413,
          "cdna_start": 1254,
          "cdna_end": null,
          "cdna_length": 2023,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "c.1250G>A",
          "hgvs_p": "p.Arg417His",
          "transcript": "ENST00000696422.1",
          "protein_id": "ENSP00000512617.1",
          "transcript_support_level": null,
          "aa_start": 417,
          "aa_end": null,
          "aa_length": 469,
          "cds_start": 1250,
          "cds_end": null,
          "cds_length": 1410,
          "cdna_start": 1251,
          "cdna_end": null,
          "cdna_length": 2020,
          "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": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "n.609G>A",
          "hgvs_p": null,
          "transcript": "ENST00000490651.1",
          "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": 783,
          "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": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "n.*511G>A",
          "hgvs_p": null,
          "transcript": "ENST00000696424.1",
          "protein_id": "ENSP00000512619.1",
          "transcript_support_level": null,
          "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": 2009,
          "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": 11,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "n.*301G>A",
          "hgvs_p": null,
          "transcript": "ENST00000696425.1",
          "protein_id": "ENSP00000512620.1",
          "transcript_support_level": null,
          "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": 2034,
          "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": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "n.*848G>A",
          "hgvs_p": null,
          "transcript": "ENST00000696426.1",
          "protein_id": "ENSP00000512621.1",
          "transcript_support_level": null,
          "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": 2638,
          "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": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "n.*348G>A",
          "hgvs_p": null,
          "transcript": "ENST00000696427.1",
          "protein_id": "ENSP00000512622.1",
          "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": 2209,
          "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": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "n.*1230G>A",
          "hgvs_p": null,
          "transcript": "ENST00000696428.1",
          "protein_id": "ENSP00000512623.1",
          "transcript_support_level": null,
          "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": 2335,
          "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": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "n.*511G>A",
          "hgvs_p": null,
          "transcript": "ENST00000696424.1",
          "protein_id": "ENSP00000512619.1",
          "transcript_support_level": null,
          "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": 2009,
          "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": 11,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "n.*301G>A",
          "hgvs_p": null,
          "transcript": "ENST00000696425.1",
          "protein_id": "ENSP00000512620.1",
          "transcript_support_level": null,
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          "aa_length": null,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 2034,
          "mane_select": null,
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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": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "n.*848G>A",
          "hgvs_p": null,
          "transcript": "ENST00000696426.1",
          "protein_id": "ENSP00000512621.1",
          "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,
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          "cdna_length": 2638,
          "mane_select": null,
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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": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "n.*348G>A",
          "hgvs_p": null,
          "transcript": "ENST00000696427.1",
          "protein_id": "ENSP00000512622.1",
          "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": 2209,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "n.*1230G>A",
          "hgvs_p": null,
          "transcript": "ENST00000696428.1",
          "protein_id": "ENSP00000512623.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 2335,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "G6PD",
      "gene_hgnc_id": 4057,
      "dbsnp": "rs72554664",
      "frequency_reference_population": 0.00011739263,
      "hom_count_reference_population": 43,
      "allele_count_reference_population": 142,
      "gnomad_exomes_af": 0.000112042,
      "gnomad_genomes_af": 0.000169928,
      "gnomad_exomes_ac": 123,
      "gnomad_genomes_ac": 19,
      "gnomad_exomes_homalt": 1,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.04361039400100708,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.029999999329447746,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.869,
      "revel_prediction": "Pathogenic",
      "alphamissense_score": 0.2498,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.77,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 7.338,
      "phylop100way_prediction": "Uncertain_significance",
      "spliceai_max_score": 0.03,
      "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": 12,
      "acmg_classification": "Pathogenic",
      "acmg_criteria": "PM1,PM5,PP2,PP3,PP5_Very_Strong,BP4,BS2_Supporting",
      "acmg_by_gene": [
        {
          "score": 12,
          "benign_score": 2,
          "pathogenic_score": 14,
          "criteria": [
            "PM1",
            "PM5",
            "PP2",
            "PP3",
            "PP5_Very_Strong",
            "BP4",
            "BS2_Supporting"
          ],
          "verdict": "Pathogenic",
          "transcript": "ENST00000393562.10",
          "gene_symbol": "G6PD",
          "hgnc_id": 4057,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "XL",
          "hgvs_c": "c.1388G>A",
          "hgvs_p": "p.Arg463His"
        }
      ],
      "clinvar_disease": " due to G6PD deficiency, nonspherocytic hemolytic, susceptibility to,Anemia,G6PD ANANT,G6PD DHON,G6PD KAIPING,G6PD PETRICH-LIKE,G6PD SAPPORO-LIKE,G6PD deficiency,Inborn genetic diseases,Malaria,not provided",
      "clinvar_classification": "Conflicting classifications of pathogenicity",
      "clinvar_review_status": "criteria provided, conflicting classifications",
      "clinvar_submissions_summary": "P:17 US:1",
      "phenotype_combined": "G6PD PETRICH-LIKE|G6PD ANANT|G6PD SAPPORO-LIKE|G6PD KAIPING|G6PD DHON|not provided|Malaria, susceptibility to;Anemia, nonspherocytic hemolytic, due to G6PD deficiency|G6PD deficiency|Inborn genetic diseases|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Malaria, susceptibility to",
      "pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
      "custom_annotations": null
    }
  ],
  "message": null
}