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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: 22-37135396-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=37135396&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "22",
      "pos": 37135396,
      "ref": "G",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "ENST00000216223.10",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL2RB",
          "gene_hgnc_id": 6009,
          "hgvs_c": "c.750C>T",
          "hgvs_p": "p.Gly250Gly",
          "transcript": "NM_000878.5",
          "protein_id": "NP_000869.1",
          "transcript_support_level": null,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 551,
          "cds_start": 750,
          "cds_end": null,
          "cds_length": 1656,
          "cdna_start": 875,
          "cdna_end": null,
          "cdna_length": 4034,
          "mane_select": "ENST00000216223.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL2RB",
          "gene_hgnc_id": 6009,
          "hgvs_c": "c.750C>T",
          "hgvs_p": "p.Gly250Gly",
          "transcript": "ENST00000216223.10",
          "protein_id": "ENSP00000216223.5",
          "transcript_support_level": 1,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 551,
          "cds_start": 750,
          "cds_end": null,
          "cds_length": 1656,
          "cdna_start": 875,
          "cdna_end": null,
          "cdna_length": 4034,
          "mane_select": "NM_000878.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL2RB",
          "gene_hgnc_id": 6009,
          "hgvs_c": "c.768C>T",
          "hgvs_p": "p.Gly256Gly",
          "transcript": "ENST00000698894.2",
          "protein_id": "ENSP00000514013.1",
          "transcript_support_level": null,
          "aa_start": 256,
          "aa_end": null,
          "aa_length": 557,
          "cds_start": 768,
          "cds_end": null,
          "cds_length": 1674,
          "cdna_start": 881,
          "cdna_end": null,
          "cdna_length": 4045,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL2RB",
          "gene_hgnc_id": 6009,
          "hgvs_c": "c.750C>T",
          "hgvs_p": "p.Gly250Gly",
          "transcript": "NM_001346222.1",
          "protein_id": "NP_001333151.1",
          "transcript_support_level": null,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 551,
          "cds_start": 750,
          "cds_end": null,
          "cds_length": 1656,
          "cdna_start": 908,
          "cdna_end": null,
          "cdna_length": 4072,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL2RB",
          "gene_hgnc_id": 6009,
          "hgvs_c": "c.750C>T",
          "hgvs_p": "p.Gly250Gly",
          "transcript": "NM_001346223.2",
          "protein_id": "NP_001333152.1",
          "transcript_support_level": null,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 551,
          "cds_start": 750,
          "cds_end": null,
          "cds_length": 1656,
          "cdna_start": 882,
          "cdna_end": null,
          "cdna_length": 4041,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL2RB",
          "gene_hgnc_id": 6009,
          "hgvs_c": "c.750C>T",
          "hgvs_p": "p.Gly250Gly",
          "transcript": "ENST00000429622.6",
          "protein_id": "ENSP00000402685.2",
          "transcript_support_level": 4,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 551,
          "cds_start": 750,
          "cds_end": null,
          "cds_length": 1656,
          "cdna_start": 882,
          "cdna_end": null,
          "cdna_length": 4041,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL2RB",
          "gene_hgnc_id": 6009,
          "hgvs_c": "c.750C>T",
          "hgvs_p": "p.Gly250Gly",
          "transcript": "ENST00000445595.2",
          "protein_id": "ENSP00000401020.2",
          "transcript_support_level": 4,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 551,
          "cds_start": 750,
          "cds_end": null,
          "cds_length": 1656,
          "cdna_start": 1071,
          "cdna_end": null,
          "cdna_length": 4230,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL2RB",
          "gene_hgnc_id": 6009,
          "hgvs_c": "c.750C>T",
          "hgvs_p": "p.Gly250Gly",
          "transcript": "ENST00000453962.6",
          "protein_id": "ENSP00000403731.2",
          "transcript_support_level": 4,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 551,
          "cds_start": 750,
          "cds_end": null,
          "cds_length": 1656,
          "cdna_start": 908,
          "cdna_end": null,
          "cdna_length": 4067,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL2RB",
          "gene_hgnc_id": 6009,
          "hgvs_c": "c.750C>T",
          "hgvs_p": "p.Gly250Gly",
          "transcript": "ENST00000698883.1",
          "protein_id": "ENSP00000514005.1",
          "transcript_support_level": null,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 551,
          "cds_start": 750,
          "cds_end": null,
          "cds_length": 1656,
          "cdna_start": 982,
          "cdna_end": null,
          "cdna_length": 4141,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL2RB",
          "gene_hgnc_id": 6009,
          "hgvs_c": "c.750C>T",
          "hgvs_p": "p.Gly250Gly",
          "transcript": "ENST00000698890.1",
          "protein_id": "ENSP00000514009.1",
          "transcript_support_level": null,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 551,
          "cds_start": 750,
          "cds_end": null,
          "cds_length": 1656,
          "cdna_start": 1625,
          "cdna_end": null,
          "cdna_length": 4789,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL2RB",
          "gene_hgnc_id": 6009,
          "hgvs_c": "c.750C>T",
          "hgvs_p": "p.Gly250Gly",
          "transcript": "ENST00000698892.1",
          "protein_id": "ENSP00000514011.1",
          "transcript_support_level": null,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 551,
          "cds_start": 750,
          "cds_end": null,
          "cds_length": 1656,
          "cdna_start": 944,
          "cdna_end": null,
          "cdna_length": 4103,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL2RB",
          "gene_hgnc_id": 6009,
          "hgvs_c": "c.750C>T",
          "hgvs_p": "p.Gly250Gly",
          "transcript": "ENST00000698893.1",
          "protein_id": "ENSP00000514012.1",
          "transcript_support_level": null,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 551,
          "cds_start": 750,
          "cds_end": null,
          "cds_length": 1656,
          "cdna_start": 940,
          "cdna_end": null,
          "cdna_length": 4099,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL2RB",
          "gene_hgnc_id": 6009,
          "hgvs_c": "c.747C>T",
          "hgvs_p": "p.Gly249Gly",
          "transcript": "ENST00000698902.1",
          "protein_id": "ENSP00000514017.1",
          "transcript_support_level": null,
          "aa_start": 249,
          "aa_end": null,
          "aa_length": 550,
          "cds_start": 747,
          "cds_end": null,
          "cds_length": 1653,
          "cdna_start": 873,
          "cdna_end": null,
          "cdna_length": 4037,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL2RB",
          "gene_hgnc_id": 6009,
          "hgvs_c": "c.750C>T",
          "hgvs_p": "p.Gly250Gly",
          "transcript": "ENST00000698903.1",
          "protein_id": "ENSP00000514018.1",
          "transcript_support_level": null,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 550,
          "cds_start": 750,
          "cds_end": null,
          "cds_length": 1653,
          "cdna_start": 863,
          "cdna_end": null,
          "cdna_length": 4022,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "IL2RB",
          "gene_hgnc_id": 6009,
          "hgvs_c": "c.723C>T",
          "hgvs_p": "p.Gly241Gly",
          "transcript": "ENST00000698904.1",
          "protein_id": "ENSP00000514019.1",
          "transcript_support_level": null,
          "aa_start": 241,
          "aa_end": null,
          "aa_length": 542,
          "cds_start": 723,
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          "cdna_start": 837,
          "cdna_end": null,
          "cdna_length": 3996,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL2RB",
          "gene_hgnc_id": 6009,
          "hgvs_c": "c.750C>T",
          "hgvs_p": "p.Gly250Gly",
          "transcript": "ENST00000703410.1",
          "protein_id": "ENSP00000516411.1",
          "transcript_support_level": null,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 322,
          "cds_start": 750,
          "cds_end": null,
          "cds_length": 969,
          "cdna_start": 878,
          "cdna_end": null,
          "cdna_length": 1524,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL2RB",
          "gene_hgnc_id": 6009,
          "hgvs_c": "n.228C>T",
          "hgvs_p": null,
          "transcript": "ENST00000483573.1",
          "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": 708,
          "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": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL2RB",
          "gene_hgnc_id": 6009,
          "hgvs_c": "n.*742C>T",
          "hgvs_p": null,
          "transcript": "ENST00000698891.1",
          "protein_id": "ENSP00000514010.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4124,
          "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": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL2RB",
          "gene_hgnc_id": 6009,
          "hgvs_c": "n.*550C>T",
          "hgvs_p": null,
          "transcript": "ENST00000698895.1",
          "protein_id": "ENSP00000514014.1",
          "transcript_support_level": null,
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          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4060,
          "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": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL2RB",
          "gene_hgnc_id": 6009,
          "hgvs_c": "n.*509C>T",
          "hgvs_p": null,
          "transcript": "ENST00000698896.1",
          "protein_id": "ENSP00000514015.1",
          "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": 3943,
          "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": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL2RB",
          "gene_hgnc_id": 6009,
          "hgvs_c": "n.750C>T",
          "hgvs_p": null,
          "transcript": "ENST00000698905.1",
          "protein_id": "ENSP00000514020.1",
          "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": 4017,
          "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": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL2RB",
          "gene_hgnc_id": 6009,
          "hgvs_c": "n.*742C>T",
          "hgvs_p": null,
          "transcript": "ENST00000698891.1",
          "protein_id": "ENSP00000514010.1",
          "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,
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          "cdna_length": 4124,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL2RB",
          "gene_hgnc_id": 6009,
          "hgvs_c": "n.*550C>T",
          "hgvs_p": null,
          "transcript": "ENST00000698895.1",
          "protein_id": "ENSP00000514014.1",
          "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": 4060,
          "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": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL2RB",
          "gene_hgnc_id": 6009,
          "hgvs_c": "n.*509C>T",
          "hgvs_p": null,
          "transcript": "ENST00000698896.1",
          "protein_id": "ENSP00000514015.1",
          "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": 3943,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "IL2RB",
      "gene_hgnc_id": 6009,
      "dbsnp": "rs228953",
      "frequency_reference_population": 0.43146366,
      "hom_count_reference_population": 151103,
      "allele_count_reference_population": 695755,
      "gnomad_exomes_af": 0.431662,
      "gnomad_genomes_af": 0.429561,
      "gnomad_exomes_ac": 630484,
      "gnomad_genomes_ac": 65271,
      "gnomad_exomes_homalt": 136966,
      "gnomad_genomes_homalt": 14137,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.04500000178813934,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "REVEL",
      "splice_score_selected": 0.019999999552965164,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.045,
      "revel_prediction": "Benign",
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.78,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.458,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.02,
      "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": -19,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
      "acmg_by_gene": [
        {
          "score": -19,
          "benign_score": 19,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Moderate",
            "BP6_Very_Strong",
            "BP7",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000216223.10",
          "gene_symbol": "IL2RB",
          "hgnc_id": 6009,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.750C>T",
          "hgvs_p": "p.Gly250Gly"
        }
      ],
      "clinvar_disease": "IL2RB-related disorder,Immunodeficiency 63 with lymphoproliferation and autoimmunity,not provided,not specified",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "B:4",
      "phenotype_combined": "not provided|Immunodeficiency 63 with lymphoproliferation and autoimmunity|not specified|IL2RB-related disorder",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
    }
  ],
  "message": null
}