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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: 2-219208593-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219208593&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 219208593,
      "ref": "C",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "NM_001437630.1",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND2B",
          "gene_hgnc_id": 25206,
          "hgvs_c": "c.610C>G",
          "hgvs_p": "p.Arg204Gly",
          "transcript": "NM_138802.3",
          "protein_id": "NP_620157.1",
          "transcript_support_level": null,
          "aa_start": 204,
          "aa_end": null,
          "aa_length": 257,
          "cds_start": 610,
          "cds_end": null,
          "cds_length": 774,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000289528.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_138802.3"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND2B",
          "gene_hgnc_id": 25206,
          "hgvs_c": "c.610C>G",
          "hgvs_p": "p.Arg204Gly",
          "transcript": "ENST00000289528.10",
          "protein_id": "ENSP00000289528.5",
          "transcript_support_level": 1,
          "aa_start": 204,
          "aa_end": null,
          "aa_length": 257,
          "cds_start": 610,
          "cds_end": null,
          "cds_length": 774,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_138802.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000289528.10"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND2B",
          "gene_hgnc_id": 25206,
          "hgvs_c": "c.610C>G",
          "hgvs_p": "p.Arg204Gly",
          "transcript": "NM_001437630.1",
          "protein_id": "NP_001424559.1",
          "transcript_support_level": null,
          "aa_start": 204,
          "aa_end": null,
          "aa_length": 338,
          "cds_start": 610,
          "cds_end": null,
          "cds_length": 1017,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001437630.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND2B",
          "gene_hgnc_id": 25206,
          "hgvs_c": "c.610C>G",
          "hgvs_p": "p.Arg204Gly",
          "transcript": "NM_001437631.1",
          "protein_id": "NP_001424560.1",
          "transcript_support_level": null,
          "aa_start": 204,
          "aa_end": null,
          "aa_length": 338,
          "cds_start": 610,
          "cds_end": null,
          "cds_length": 1017,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001437631.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND2B",
          "gene_hgnc_id": 25206,
          "hgvs_c": "c.610C>G",
          "hgvs_p": "p.Arg204Gly",
          "transcript": "NM_001270998.2",
          "protein_id": "NP_001257927.1",
          "transcript_support_level": null,
          "aa_start": 204,
          "aa_end": null,
          "aa_length": 257,
          "cds_start": 610,
          "cds_end": null,
          "cds_length": 774,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001270998.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND2B",
          "gene_hgnc_id": 25206,
          "hgvs_c": "c.610C>G",
          "hgvs_p": "p.Arg204Gly",
          "transcript": "NM_001437629.1",
          "protein_id": "NP_001424558.1",
          "transcript_support_level": null,
          "aa_start": 204,
          "aa_end": null,
          "aa_length": 257,
          "cds_start": 610,
          "cds_end": null,
          "cds_length": 774,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001437629.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND2B",
          "gene_hgnc_id": 25206,
          "hgvs_c": "c.610C>G",
          "hgvs_p": "p.Arg204Gly",
          "transcript": "ENST00000409336.5",
          "protein_id": "ENSP00000386898.1",
          "transcript_support_level": 5,
          "aa_start": 204,
          "aa_end": null,
          "aa_length": 257,
          "cds_start": 610,
          "cds_end": null,
          "cds_length": 774,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000409336.5"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND2B",
          "gene_hgnc_id": 25206,
          "hgvs_c": "c.610C>G",
          "hgvs_p": "p.Arg204Gly",
          "transcript": "ENST00000444522.6",
          "protein_id": "ENSP00000411334.3",
          "transcript_support_level": 5,
          "aa_start": 204,
          "aa_end": null,
          "aa_length": 257,
          "cds_start": 610,
          "cds_end": null,
          "cds_length": 774,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000444522.6"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND2B",
          "gene_hgnc_id": 25206,
          "hgvs_c": "c.598C>G",
          "hgvs_p": "p.Arg200Gly",
          "transcript": "ENST00000912543.1",
          "protein_id": "ENSP00000582602.1",
          "transcript_support_level": null,
          "aa_start": 200,
          "aa_end": null,
          "aa_length": 253,
          "cds_start": 598,
          "cds_end": null,
          "cds_length": 762,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000912543.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND2B",
          "gene_hgnc_id": 25206,
          "hgvs_c": "c.517C>G",
          "hgvs_p": "p.Arg173Gly",
          "transcript": "ENST00000912544.1",
          "protein_id": "ENSP00000582603.1",
          "transcript_support_level": null,
          "aa_start": 173,
          "aa_end": null,
          "aa_length": 226,
          "cds_start": 517,
          "cds_end": null,
          "cds_length": 681,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000912544.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND2B",
          "gene_hgnc_id": 25206,
          "hgvs_c": "c.610C>G",
          "hgvs_p": "p.Arg204Gly",
          "transcript": "ENST00000409217.5",
          "protein_id": "ENSP00000386370.1",
          "transcript_support_level": 2,
          "aa_start": 204,
          "aa_end": null,
          "aa_length": 224,
          "cds_start": 610,
          "cds_end": null,
          "cds_length": 675,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000409217.5"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND2B",
          "gene_hgnc_id": 25206,
          "hgvs_c": "c.478C>G",
          "hgvs_p": "p.Arg160Gly",
          "transcript": "NM_001270999.2",
          "protein_id": "NP_001257928.1",
          "transcript_support_level": null,
          "aa_start": 160,
          "aa_end": null,
          "aa_length": 213,
          "cds_start": 478,
          "cds_end": null,
          "cds_length": 642,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001270999.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND2B",
          "gene_hgnc_id": 25206,
          "hgvs_c": "c.478C>G",
          "hgvs_p": "p.Arg160Gly",
          "transcript": "ENST00000621130.4",
          "protein_id": "ENSP00000483320.1",
          "transcript_support_level": 5,
          "aa_start": 160,
          "aa_end": null,
          "aa_length": 213,
          "cds_start": 478,
          "cds_end": null,
          "cds_length": 642,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000621130.4"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND2B",
          "gene_hgnc_id": 25206,
          "hgvs_c": "c.478C>G",
          "hgvs_p": "p.Arg160Gly",
          "transcript": "ENST00000873827.1",
          "protein_id": "ENSP00000543886.1",
          "transcript_support_level": null,
          "aa_start": 160,
          "aa_end": null,
          "aa_length": 213,
          "cds_start": 478,
          "cds_end": null,
          "cds_length": 642,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000873827.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND2B",
          "gene_hgnc_id": 25206,
          "hgvs_c": "c.49C>G",
          "hgvs_p": "p.Arg17Gly",
          "transcript": "ENST00000425849.1",
          "protein_id": "ENSP00000416138.1",
          "transcript_support_level": 3,
          "aa_start": 17,
          "aa_end": null,
          "aa_length": 151,
          "cds_start": 49,
          "cds_end": null,
          "cds_length": 456,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000425849.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND2B",
          "gene_hgnc_id": 25206,
          "hgvs_c": "c.*17C>G",
          "hgvs_p": null,
          "transcript": "ENST00000409097.5",
          "protein_id": "ENSP00000387179.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 225,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 678,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000409097.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND2B",
          "gene_hgnc_id": 25206,
          "hgvs_c": "c.*241C>G",
          "hgvs_p": null,
          "transcript": "ENST00000409206.5",
          "protein_id": "ENSP00000386824.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 176,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 531,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000409206.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND2B",
          "gene_hgnc_id": 25206,
          "hgvs_c": "c.*241C>G",
          "hgvs_p": null,
          "transcript": "ENST00000409594.5",
          "protein_id": "ENSP00000386399.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 176,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 531,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000409594.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND2B",
          "gene_hgnc_id": 25206,
          "hgvs_c": "n.*399C>G",
          "hgvs_p": null,
          "transcript": "ENST00000448496.5",
          "protein_id": "ENSP00000388773.1",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000448496.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND2B",
          "gene_hgnc_id": 25206,
          "hgvs_c": "n.797C>G",
          "hgvs_p": null,
          "transcript": "ENST00000464902.5",
          "protein_id": null,
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000464902.5"
        },
        {
          "aa_ref": null,
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          "protein_coding": false,
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          "consequences": [
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          "exon_count": 5,
          "intron_rank": null,
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          "biotype": "pseudogene",
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        {
          "aa_ref": null,
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          "protein_coding": false,
          "strand": true,
          "consequences": [
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          "exon_count": 8,
          "intron_rank": null,
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          "gene_symbol": "ZFAND2B",
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          "hgvs_c": "n.619C>G",
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          "transcript": "ENST00000475533.1",
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          "transcript_support_level": 5,
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          "cdna_start": null,
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          "biotype": "retained_intron",
          "feature": "ENST00000475533.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
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          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "ZFAND2B",
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          "hgvs_c": "n.607C>G",
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          "transcript": "ENST00000486734.5",
          "protein_id": null,
          "transcript_support_level": 3,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "retained_intron",
          "feature": "ENST00000486734.5"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "ZFAND2B",
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          "hgvs_c": "n.*399C>G",
          "hgvs_p": null,
          "transcript": "ENST00000448496.5",
          "protein_id": "ENSP00000388773.1",
          "transcript_support_level": 3,
          "aa_start": null,
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          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000448496.5"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
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          "exon_count": 7,
          "intron_rank": null,
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          "gene_symbol": "ZFAND2B",
          "gene_hgnc_id": 25206,
          "hgvs_c": "c.*53C>G",
          "hgvs_p": null,
          "transcript": "ENST00000422255.5",
          "protein_id": "ENSP00000409931.1",
          "transcript_support_level": 3,
          "aa_start": null,
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          "aa_length": 213,
          "cds_start": null,
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          "cds_length": 642,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000422255.5"
        }
      ],
      "gene_symbol": "ZFAND2B",
      "gene_hgnc_id": 25206,
      "dbsnp": "rs745481290",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.24769148230552673,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.05000000074505806,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.233,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.4476,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.1,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 3.512,
      "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_001437630.1",
          "gene_symbol": "ZFAND2B",
          "hgnc_id": 25206,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.610C>G",
          "hgvs_p": "p.Arg204Gly"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}