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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-71241084-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=71241084&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "X",
      "pos": 71241084,
      "ref": "G",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "NM_005096.3",
      "consequences": [
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZMYM3",
          "gene_hgnc_id": 13054,
          "hgvs_c": "c.3945C>T",
          "hgvs_p": "p.Asn1315Asn",
          "transcript": "NM_201599.3",
          "protein_id": "NP_963893.1",
          "transcript_support_level": null,
          "aa_start": 1315,
          "aa_end": null,
          "aa_length": 1370,
          "cds_start": 3945,
          "cds_end": null,
          "cds_length": 4113,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000314425.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_201599.3"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZMYM3",
          "gene_hgnc_id": 13054,
          "hgvs_c": "c.3945C>T",
          "hgvs_p": "p.Asn1315Asn",
          "transcript": "ENST00000314425.9",
          "protein_id": "ENSP00000322845.5",
          "transcript_support_level": 1,
          "aa_start": 1315,
          "aa_end": null,
          "aa_length": 1370,
          "cds_start": 3945,
          "cds_end": null,
          "cds_length": 4113,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_201599.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000314425.9"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZMYM3",
          "gene_hgnc_id": 13054,
          "hgvs_c": "c.3909C>T",
          "hgvs_p": "p.Asn1303Asn",
          "transcript": "ENST00000373998.5",
          "protein_id": "ENSP00000363110.1",
          "transcript_support_level": 1,
          "aa_start": 1303,
          "aa_end": null,
          "aa_length": 1358,
          "cds_start": 3909,
          "cds_end": null,
          "cds_length": 4077,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000373998.5"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZMYM3",
          "gene_hgnc_id": 13054,
          "hgvs_c": "c.3951C>T",
          "hgvs_p": "p.Asn1317Asn",
          "transcript": "ENST00000373988.5",
          "protein_id": "ENSP00000363100.1",
          "transcript_support_level": 5,
          "aa_start": 1317,
          "aa_end": null,
          "aa_length": 1372,
          "cds_start": 3951,
          "cds_end": null,
          "cds_length": 4119,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000373988.5"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZMYM3",
          "gene_hgnc_id": 13054,
          "hgvs_c": "c.3945C>T",
          "hgvs_p": "p.Asn1315Asn",
          "transcript": "NM_005096.3",
          "protein_id": "NP_005087.1",
          "transcript_support_level": null,
          "aa_start": 1315,
          "aa_end": null,
          "aa_length": 1370,
          "cds_start": 3945,
          "cds_end": null,
          "cds_length": 4113,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_005096.3"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZMYM3",
          "gene_hgnc_id": 13054,
          "hgvs_c": "c.3945C>T",
          "hgvs_p": "p.Asn1315Asn",
          "transcript": "ENST00000851900.1",
          "protein_id": "ENSP00000521959.1",
          "transcript_support_level": null,
          "aa_start": 1315,
          "aa_end": null,
          "aa_length": 1370,
          "cds_start": 3945,
          "cds_end": null,
          "cds_length": 4113,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000851900.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZMYM3",
          "gene_hgnc_id": 13054,
          "hgvs_c": "c.3945C>T",
          "hgvs_p": "p.Asn1315Asn",
          "transcript": "ENST00000851902.1",
          "protein_id": "ENSP00000521961.1",
          "transcript_support_level": null,
          "aa_start": 1315,
          "aa_end": null,
          "aa_length": 1370,
          "cds_start": 3945,
          "cds_end": null,
          "cds_length": 4113,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000851902.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZMYM3",
          "gene_hgnc_id": 13054,
          "hgvs_c": "c.3945C>T",
          "hgvs_p": "p.Asn1315Asn",
          "transcript": "ENST00000851906.1",
          "protein_id": "ENSP00000521965.1",
          "transcript_support_level": null,
          "aa_start": 1315,
          "aa_end": null,
          "aa_length": 1370,
          "cds_start": 3945,
          "cds_end": null,
          "cds_length": 4113,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000851906.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZMYM3",
          "gene_hgnc_id": 13054,
          "hgvs_c": "c.3945C>T",
          "hgvs_p": "p.Asn1315Asn",
          "transcript": "ENST00000936826.1",
          "protein_id": "ENSP00000606885.1",
          "transcript_support_level": null,
          "aa_start": 1315,
          "aa_end": null,
          "aa_length": 1370,
          "cds_start": 3945,
          "cds_end": null,
          "cds_length": 4113,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000936826.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZMYM3",
          "gene_hgnc_id": 13054,
          "hgvs_c": "c.3945C>T",
          "hgvs_p": "p.Asn1315Asn",
          "transcript": "ENST00000936827.1",
          "protein_id": "ENSP00000606886.1",
          "transcript_support_level": null,
          "aa_start": 1315,
          "aa_end": null,
          "aa_length": 1370,
          "cds_start": 3945,
          "cds_end": null,
          "cds_length": 4113,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000936827.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZMYM3",
          "gene_hgnc_id": 13054,
          "hgvs_c": "c.3945C>T",
          "hgvs_p": "p.Asn1315Asn",
          "transcript": "ENST00000936830.1",
          "protein_id": "ENSP00000606889.1",
          "transcript_support_level": null,
          "aa_start": 1315,
          "aa_end": null,
          "aa_length": 1370,
          "cds_start": 3945,
          "cds_end": null,
          "cds_length": 4113,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000936830.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZMYM3",
          "gene_hgnc_id": 13054,
          "hgvs_c": "c.3942C>T",
          "hgvs_p": "p.Asn1314Asn",
          "transcript": "ENST00000851905.1",
          "protein_id": "ENSP00000521964.1",
          "transcript_support_level": null,
          "aa_start": 1314,
          "aa_end": null,
          "aa_length": 1369,
          "cds_start": 3942,
          "cds_end": null,
          "cds_length": 4110,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000851905.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZMYM3",
          "gene_hgnc_id": 13054,
          "hgvs_c": "c.3921C>T",
          "hgvs_p": "p.Asn1307Asn",
          "transcript": "ENST00000936829.1",
          "protein_id": "ENSP00000606888.1",
          "transcript_support_level": null,
          "aa_start": 1307,
          "aa_end": null,
          "aa_length": 1362,
          "cds_start": 3921,
          "cds_end": null,
          "cds_length": 4089,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000936829.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZMYM3",
          "gene_hgnc_id": 13054,
          "hgvs_c": "c.3909C>T",
          "hgvs_p": "p.Asn1303Asn",
          "transcript": "NM_001171162.1",
          "protein_id": "NP_001164633.1",
          "transcript_support_level": null,
          "aa_start": 1303,
          "aa_end": null,
          "aa_length": 1358,
          "cds_start": 3909,
          "cds_end": null,
          "cds_length": 4077,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001171162.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZMYM3",
          "gene_hgnc_id": 13054,
          "hgvs_c": "c.3909C>T",
          "hgvs_p": "p.Asn1303Asn",
          "transcript": "ENST00000851901.1",
          "protein_id": "ENSP00000521960.1",
          "transcript_support_level": null,
          "aa_start": 1303,
          "aa_end": null,
          "aa_length": 1358,
          "cds_start": 3909,
          "cds_end": null,
          "cds_length": 4077,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000851901.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZMYM3",
          "gene_hgnc_id": 13054,
          "hgvs_c": "c.3909C>T",
          "hgvs_p": "p.Asn1303Asn",
          "transcript": "ENST00000851903.1",
          "protein_id": "ENSP00000521962.1",
          "transcript_support_level": null,
          "aa_start": 1303,
          "aa_end": null,
          "aa_length": 1358,
          "cds_start": 3909,
          "cds_end": null,
          "cds_length": 4077,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000851903.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZMYM3",
          "gene_hgnc_id": 13054,
          "hgvs_c": "c.3909C>T",
          "hgvs_p": "p.Asn1303Asn",
          "transcript": "ENST00000851904.1",
          "protein_id": "ENSP00000521963.1",
          "transcript_support_level": null,
          "aa_start": 1303,
          "aa_end": null,
          "aa_length": 1358,
          "cds_start": 3909,
          "cds_end": null,
          "cds_length": 4077,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000851904.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZMYM3",
          "gene_hgnc_id": 13054,
          "hgvs_c": "c.3690C>T",
          "hgvs_p": "p.Asn1230Asn",
          "transcript": "ENST00000936828.1",
          "protein_id": "ENSP00000606887.1",
          "transcript_support_level": null,
          "aa_start": 1230,
          "aa_end": null,
          "aa_length": 1285,
          "cds_start": 3690,
          "cds_end": null,
          "cds_length": 3858,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000936828.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZMYM3",
          "gene_hgnc_id": 13054,
          "hgvs_c": "c.3675C>T",
          "hgvs_p": "p.Asn1225Asn",
          "transcript": "ENST00000373984.7",
          "protein_id": "ENSP00000363096.3",
          "transcript_support_level": 5,
          "aa_start": 1225,
          "aa_end": null,
          "aa_length": 1280,
          "cds_start": 3675,
          "cds_end": null,
          "cds_length": 3843,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000373984.7"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZMYM3",
          "gene_hgnc_id": 13054,
          "hgvs_c": "c.3945C>T",
          "hgvs_p": "p.Asn1315Asn",
          "transcript": "XM_005262309.5",
          "protein_id": "XP_005262366.1",
          "transcript_support_level": null,
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          "aa_end": null,
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          "aa_ref": "N",
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          "hgvs_p": "p.Asn1303Asn",
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          "cds_start": 3909,
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          "aa_ref": "N",
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          "protein_id": "XP_047298590.1",
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        },
        {
          "aa_ref": "N",
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          "protein_coding": true,
          "strand": false,
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            "synonymous_variant"
          ],
          "exon_rank": 25,
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          "gene_symbol": "ZMYM3",
          "gene_hgnc_id": 13054,
          "hgvs_c": "c.3909C>T",
          "hgvs_p": "p.Asn1303Asn",
          "transcript": "XM_047442635.1",
          "protein_id": "XP_047298591.1",
          "transcript_support_level": null,
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        },
        {
          "aa_ref": null,
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          "protein_coding": false,
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          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 24,
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          "exon_count": 24,
          "intron_rank": null,
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          "gene_symbol": "ZMYM3",
          "gene_hgnc_id": 13054,
          "hgvs_c": "n.4265C>T",
          "hgvs_p": null,
          "transcript": "ENST00000489332.1",
          "protein_id": null,
          "transcript_support_level": 5,
          "aa_start": null,
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          "aa_length": null,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "pseudogene",
          "feature": "ENST00000489332.1"
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      ],
      "gene_symbol": "ZMYM3",
      "gene_hgnc_id": 13054,
      "dbsnp": "rs2272778",
      "frequency_reference_population": 0.004569345,
      "hom_count_reference_population": 1750,
      "allele_count_reference_population": 5517,
      "gnomad_exomes_af": 0.00468427,
      "gnomad_genomes_af": 0.00343128,
      "gnomad_exomes_ac": 5137,
      "gnomad_genomes_ac": 380,
      "gnomad_exomes_homalt": 13,
      "gnomad_genomes_homalt": 1,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8600000143051147,
      "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": -0.86,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -1.082,
      "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": -17,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
      "acmg_by_gene": [
        {
          "score": -17,
          "benign_score": 17,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Very_Strong",
            "BP7",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "NM_005096.3",
          "gene_symbol": "ZMYM3",
          "hgnc_id": 13054,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "XL",
          "hgvs_c": "c.3945C>T",
          "hgvs_p": "p.Asn1315Asn"
        }
      ],
      "clinvar_disease": "not provided",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "B:2",
      "phenotype_combined": "not provided",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
    }
  ],
  "message": null
}