← Back to variant description

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-45076737-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=45076737&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "X",
      "pos": 45076737,
      "ref": "T",
      "alt": "C",
      "effect": "synonymous_variant",
      "transcript": "ENST00000611820.5",
      "consequences": [
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "c.2899T>C",
          "hgvs_p": "p.Leu967Leu",
          "transcript": "NM_001291415.2",
          "protein_id": "NP_001278344.1",
          "transcript_support_level": null,
          "aa_start": 967,
          "aa_end": null,
          "aa_length": 1453,
          "cds_start": 2899,
          "cds_end": null,
          "cds_length": 4362,
          "cdna_start": 3263,
          "cdna_end": null,
          "cdna_length": 6094,
          "mane_select": "ENST00000611820.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "c.2899T>C",
          "hgvs_p": "p.Leu967Leu",
          "transcript": "ENST00000611820.5",
          "protein_id": "ENSP00000483595.2",
          "transcript_support_level": 1,
          "aa_start": 967,
          "aa_end": null,
          "aa_length": 1453,
          "cds_start": 2899,
          "cds_end": null,
          "cds_length": 4362,
          "cdna_start": 3263,
          "cdna_end": null,
          "cdna_length": 6094,
          "mane_select": "NM_001291415.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "c.2764T>C",
          "hgvs_p": "p.Leu922Leu",
          "transcript": "ENST00000382899.9",
          "protein_id": "ENSP00000372355.6",
          "transcript_support_level": 1,
          "aa_start": 922,
          "aa_end": null,
          "aa_length": 1408,
          "cds_start": 2764,
          "cds_end": null,
          "cds_length": 4227,
          "cdna_start": 3128,
          "cdna_end": null,
          "cdna_length": 5778,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "c.2743T>C",
          "hgvs_p": "p.Leu915Leu",
          "transcript": "ENST00000377967.9",
          "protein_id": "ENSP00000367203.4",
          "transcript_support_level": 1,
          "aa_start": 915,
          "aa_end": null,
          "aa_length": 1401,
          "cds_start": 2743,
          "cds_end": null,
          "cds_length": 4206,
          "cdna_start": 3107,
          "cdna_end": null,
          "cdna_length": 5761,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "c.2608T>C",
          "hgvs_p": "p.Leu870Leu",
          "transcript": "ENST00000536777.6",
          "protein_id": "ENSP00000437405.3",
          "transcript_support_level": 1,
          "aa_start": 870,
          "aa_end": null,
          "aa_length": 1356,
          "cds_start": 2608,
          "cds_end": null,
          "cds_length": 4071,
          "cdna_start": 2972,
          "cdna_end": null,
          "cdna_length": 5622,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "c.2506T>C",
          "hgvs_p": "p.Leu836Leu",
          "transcript": "ENST00000543216.6",
          "protein_id": "ENSP00000443078.3",
          "transcript_support_level": 1,
          "aa_start": 836,
          "aa_end": null,
          "aa_length": 1322,
          "cds_start": 2506,
          "cds_end": null,
          "cds_length": 3969,
          "cdna_start": 2870,
          "cdna_end": null,
          "cdna_length": 5520,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "n.*1737T>C",
          "hgvs_p": null,
          "transcript": "ENST00000621147.5",
          "protein_id": "ENSP00000478793.1",
          "transcript_support_level": 1,
          "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": 2595,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "n.*1737T>C",
          "hgvs_p": null,
          "transcript": "ENST00000621147.5",
          "protein_id": "ENSP00000478793.1",
          "transcript_support_level": 1,
          "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": 2595,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "c.2899T>C",
          "hgvs_p": "p.Leu967Leu",
          "transcript": "NM_001419809.1",
          "protein_id": "NP_001406738.1",
          "transcript_support_level": null,
          "aa_start": 967,
          "aa_end": null,
          "aa_length": 1489,
          "cds_start": 2899,
          "cds_end": null,
          "cds_length": 4470,
          "cdna_start": 3263,
          "cdna_end": null,
          "cdna_length": 6202,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "c.2797T>C",
          "hgvs_p": "p.Leu933Leu",
          "transcript": "NM_001419810.1",
          "protein_id": "NP_001406739.1",
          "transcript_support_level": null,
          "aa_start": 933,
          "aa_end": null,
          "aa_length": 1455,
          "cds_start": 2797,
          "cds_end": null,
          "cds_length": 4368,
          "cdna_start": 3161,
          "cdna_end": null,
          "cdna_length": 6100,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "c.2764T>C",
          "hgvs_p": "p.Leu922Leu",
          "transcript": "NM_001419811.1",
          "protein_id": "NP_001406740.1",
          "transcript_support_level": null,
          "aa_start": 922,
          "aa_end": null,
          "aa_length": 1444,
          "cds_start": 2764,
          "cds_end": null,
          "cds_length": 4335,
          "cdna_start": 3128,
          "cdna_end": null,
          "cdna_length": 6067,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "c.2743T>C",
          "hgvs_p": "p.Leu915Leu",
          "transcript": "NM_001419812.1",
          "protein_id": "NP_001406741.1",
          "transcript_support_level": null,
          "aa_start": 915,
          "aa_end": null,
          "aa_length": 1437,
          "cds_start": 2743,
          "cds_end": null,
          "cds_length": 4314,
          "cdna_start": 3107,
          "cdna_end": null,
          "cdna_length": 6046,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "c.2821T>C",
          "hgvs_p": "p.Leu941Leu",
          "transcript": "ENST00000674586.1",
          "protein_id": "ENSP00000502660.1",
          "transcript_support_level": null,
          "aa_start": 941,
          "aa_end": null,
          "aa_length": 1427,
          "cds_start": 2821,
          "cds_end": null,
          "cds_length": 4284,
          "cdna_start": 3185,
          "cdna_end": null,
          "cdna_length": 5779,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "c.2797T>C",
          "hgvs_p": "p.Leu933Leu",
          "transcript": "NM_001419813.1",
          "protein_id": "NP_001406742.1",
          "transcript_support_level": null,
          "aa_start": 933,
          "aa_end": null,
          "aa_length": 1419,
          "cds_start": 2797,
          "cds_end": null,
          "cds_length": 4260,
          "cdna_start": 3161,
          "cdna_end": null,
          "cdna_length": 5992,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "c.2764T>C",
          "hgvs_p": "p.Leu922Leu",
          "transcript": "NM_001291416.2",
          "protein_id": "NP_001278345.1",
          "transcript_support_level": null,
          "aa_start": 922,
          "aa_end": null,
          "aa_length": 1408,
          "cds_start": 2764,
          "cds_end": null,
          "cds_length": 4227,
          "cdna_start": 3128,
          "cdna_end": null,
          "cdna_length": 5959,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "c.2641T>C",
          "hgvs_p": "p.Leu881Leu",
          "transcript": "NM_001419814.1",
          "protein_id": "NP_001406743.1",
          "transcript_support_level": null,
          "aa_start": 881,
          "aa_end": null,
          "aa_length": 1403,
          "cds_start": 2641,
          "cds_end": null,
          "cds_length": 4212,
          "cdna_start": 3005,
          "cdna_end": null,
          "cdna_length": 5944,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "c.2743T>C",
          "hgvs_p": "p.Leu915Leu",
          "transcript": "NM_021140.4",
          "protein_id": "NP_066963.2",
          "transcript_support_level": null,
          "aa_start": 915,
          "aa_end": null,
          "aa_length": 1401,
          "cds_start": 2743,
          "cds_end": null,
          "cds_length": 4206,
          "cdna_start": 3107,
          "cdna_end": null,
          "cdna_length": 5938,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "c.2662T>C",
          "hgvs_p": "p.Leu888Leu",
          "transcript": "ENST00000683021.1",
          "protein_id": "ENSP00000507416.1",
          "transcript_support_level": null,
          "aa_start": 888,
          "aa_end": null,
          "aa_length": 1374,
          "cds_start": 2662,
          "cds_end": null,
          "cds_length": 4125,
          "cdna_start": 2662,
          "cdna_end": null,
          "cdna_length": 5256,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "c.2641T>C",
          "hgvs_p": "p.Leu881Leu",
          "transcript": "NM_001410742.1",
          "protein_id": "NP_001397671.1",
          "transcript_support_level": null,
          "aa_start": 881,
          "aa_end": null,
          "aa_length": 1367,
          "cds_start": 2641,
          "cds_end": null,
          "cds_length": 4104,
          "cdna_start": 3005,
          "cdna_end": null,
          "cdna_length": 5836,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "c.2641T>C",
          "hgvs_p": "p.Leu881Leu",
          "transcript": "ENST00000675577.1",
          "protein_id": "ENSP00000501855.1",
          "transcript_support_level": null,
          "aa_start": 881,
          "aa_end": null,
          "aa_length": 1367,
          "cds_start": 2641,
          "cds_end": null,
          "cds_length": 4104,
          "cdna_start": 3005,
          "cdna_end": null,
          "cdna_length": 5599,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "c.2506T>C",
          "hgvs_p": "p.Leu836Leu",
          "transcript": "NM_001419815.1",
          "protein_id": "NP_001406744.1",
          "transcript_support_level": null,
          "aa_start": 836,
          "aa_end": null,
          "aa_length": 1358,
          "cds_start": 2506,
          "cds_end": null,
          "cds_length": 4077,
          "cdna_start": 2870,
          "cdna_end": null,
          "cdna_length": 5809,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "c.2608T>C",
          "hgvs_p": "p.Leu870Leu",
          "transcript": "NM_001291417.2",
          "protein_id": "NP_001278346.1",
          "transcript_support_level": null,
          "aa_start": 870,
          "aa_end": null,
          "aa_length": 1356,
          "cds_start": 2608,
          "cds_end": null,
          "cds_length": 4071,
          "cdna_start": 2972,
          "cdna_end": null,
          "cdna_length": 5803,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "c.2605T>C",
          "hgvs_p": "p.Leu869Leu",
          "transcript": "ENST00000674867.1",
          "protein_id": "ENSP00000502060.1",
          "transcript_support_level": null,
          "aa_start": 869,
          "aa_end": null,
          "aa_length": 1355,
          "cds_start": 2605,
          "cds_end": null,
          "cds_length": 4068,
          "cdna_start": 2969,
          "cdna_end": null,
          "cdna_length": 5563,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "c.2506T>C",
          "hgvs_p": "p.Leu836Leu",
          "transcript": "NM_001291418.2",
          "protein_id": "NP_001278347.1",
          "transcript_support_level": null,
          "aa_start": 836,
          "aa_end": null,
          "aa_length": 1322,
          "cds_start": 2506,
          "cds_end": null,
          "cds_length": 3969,
          "cdna_start": 2870,
          "cdna_end": null,
          "cdna_length": 5701,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "c.1855T>C",
          "hgvs_p": "p.Leu619Leu",
          "transcript": "NM_001291421.2",
          "protein_id": "NP_001278350.1",
          "transcript_support_level": null,
          "aa_start": 619,
          "aa_end": null,
          "aa_length": 1105,
          "cds_start": 1855,
          "cds_end": null,
          "cds_length": 3318,
          "cdna_start": 2851,
          "cdna_end": null,
          "cdna_length": 5682,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "c.2662T>C",
          "hgvs_p": "p.Leu888Leu",
          "transcript": "XM_011543969.4",
          "protein_id": "XP_011542271.1",
          "transcript_support_level": null,
          "aa_start": 888,
          "aa_end": null,
          "aa_length": 1410,
          "cds_start": 2662,
          "cds_end": null,
          "cds_length": 4233,
          "cdna_start": 3026,
          "cdna_end": null,
          "cdna_length": 5965,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "c.2608T>C",
          "hgvs_p": "p.Leu870Leu",
          "transcript": "XM_011543972.4",
          "protein_id": "XP_011542274.1",
          "transcript_support_level": null,
          "aa_start": 870,
          "aa_end": null,
          "aa_length": 1392,
          "cds_start": 2608,
          "cds_end": null,
          "cds_length": 4179,
          "cdna_start": 2972,
          "cdna_end": null,
          "cdna_length": 5911,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "c.2662T>C",
          "hgvs_p": "p.Leu888Leu",
          "transcript": "XM_017029783.3",
          "protein_id": "XP_016885272.1",
          "transcript_support_level": null,
          "aa_start": 888,
          "aa_end": null,
          "aa_length": 1374,
          "cds_start": 2662,
          "cds_end": null,
          "cds_length": 4125,
          "cdna_start": 3026,
          "cdna_end": null,
          "cdna_length": 5857,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "c.2374T>C",
          "hgvs_p": "p.Leu792Leu",
          "transcript": "XM_024452439.2",
          "protein_id": "XP_024308207.1",
          "transcript_support_level": null,
          "aa_start": 792,
          "aa_end": null,
          "aa_length": 1314,
          "cds_start": 2374,
          "cds_end": null,
          "cds_length": 3945,
          "cdna_start": 2772,
          "cdna_end": null,
          "cdna_length": 5711,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "c.2374T>C",
          "hgvs_p": "p.Leu792Leu",
          "transcript": "XM_047442428.1",
          "protein_id": "XP_047298384.1",
          "transcript_support_level": null,
          "aa_start": 792,
          "aa_end": null,
          "aa_length": 1314,
          "cds_start": 2374,
          "cds_end": null,
          "cds_length": 3945,
          "cdna_start": 2719,
          "cdna_end": null,
          "cdna_length": 5658,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "c.2743T>C",
          "hgvs_p": "p.Leu915Leu",
          "transcript": "XM_011543974.3",
          "protein_id": "XP_011542276.1",
          "transcript_support_level": null,
          "aa_start": 915,
          "aa_end": null,
          "aa_length": 1293,
          "cds_start": 2743,
          "cds_end": null,
          "cds_length": 3882,
          "cdna_start": 3107,
          "cdna_end": null,
          "cdna_length": 4246,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "c.2218T>C",
          "hgvs_p": "p.Leu740Leu",
          "transcript": "XM_047442429.1",
          "protein_id": "XP_047298385.1",
          "transcript_support_level": null,
          "aa_start": 740,
          "aa_end": null,
          "aa_length": 1226,
          "cds_start": 2218,
          "cds_end": null,
          "cds_length": 3681,
          "cdna_start": 2616,
          "cdna_end": null,
          "cdna_length": 5447,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "c.2899T>C",
          "hgvs_p": "p.Leu967Leu",
          "transcript": "XM_047442430.1",
          "protein_id": "XP_047298386.1",
          "transcript_support_level": null,
          "aa_start": 967,
          "aa_end": null,
          "aa_length": 1199,
          "cds_start": 2899,
          "cds_end": null,
          "cds_length": 3600,
          "cdna_start": 3263,
          "cdna_end": null,
          "cdna_length": 4067,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "c.2608T>C",
          "hgvs_p": "p.Leu870Leu",
          "transcript": "XM_047442431.1",
          "protein_id": "XP_047298387.1",
          "transcript_support_level": null,
          "aa_start": 870,
          "aa_end": null,
          "aa_length": 1102,
          "cds_start": 2608,
          "cds_end": null,
          "cds_length": 3309,
          "cdna_start": 2972,
          "cdna_end": null,
          "cdna_length": 3776,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "n.*2031T>C",
          "hgvs_p": null,
          "transcript": "ENST00000674541.1",
          "protein_id": "ENSP00000501919.1",
          "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": 5505,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "n.2662T>C",
          "hgvs_p": null,
          "transcript": "ENST00000674564.1",
          "protein_id": "ENSP00000502150.1",
          "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": 5644,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "n.*2187T>C",
          "hgvs_p": null,
          "transcript": "ENST00000674659.1",
          "protein_id": "ENSP00000502255.1",
          "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": 5395,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "n.3801T>C",
          "hgvs_p": null,
          "transcript": "ENST00000674739.1",
          "protein_id": null,
          "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": 6395,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "n.2350T>C",
          "hgvs_p": null,
          "transcript": "ENST00000675157.1",
          "protein_id": null,
          "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": 4944,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "n.2783T>C",
          "hgvs_p": null,
          "transcript": "ENST00000675182.1",
          "protein_id": null,
          "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": 5377,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "n.2919T>C",
          "hgvs_p": null,
          "transcript": "ENST00000675440.1",
          "protein_id": null,
          "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": 4634,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "n.2743T>C",
          "hgvs_p": null,
          "transcript": "ENST00000675514.1",
          "protein_id": "ENSP00000502759.1",
          "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": 5642,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "n.4865T>C",
          "hgvs_p": null,
          "transcript": "ENST00000675525.1",
          "protein_id": null,
          "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": 7459,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "n.9449T>C",
          "hgvs_p": null,
          "transcript": "ENST00000675546.1",
          "protein_id": null,
          "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": 12117,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "n.2919T>C",
          "hgvs_p": null,
          "transcript": "ENST00000675816.1",
          "protein_id": null,
          "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": 6164,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "n.2764T>C",
          "hgvs_p": null,
          "transcript": "ENST00000676062.1",
          "protein_id": "ENSP00000502311.1",
          "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": 5677,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "n.*1929T>C",
          "hgvs_p": null,
          "transcript": "ENST00000676085.1",
          "protein_id": "ENSP00000501752.1",
          "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": 5343,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "n.*2796T>C",
          "hgvs_p": null,
          "transcript": "ENST00000676133.1",
          "protein_id": "ENSP00000502586.1",
          "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": 6135,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "n.2764T>C",
          "hgvs_p": null,
          "transcript": "ENST00000676343.1",
          "protein_id": "ENSP00000501761.1",
          "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": 5363,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "n.3186T>C",
          "hgvs_p": null,
          "transcript": "ENST00000676389.1",
          "protein_id": null,
          "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": 5780,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "n.*2187T>C",
          "hgvs_p": null,
          "transcript": "ENST00000682908.1",
          "protein_id": "ENSP00000508158.1",
          "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": 5237,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "n.*2226T>C",
          "hgvs_p": null,
          "transcript": "ENST00000683425.1",
          "protein_id": "ENSP00000507291.1",
          "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": 5335,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "n.*144T>C",
          "hgvs_p": null,
          "transcript": "ENST00000684352.1",
          "protein_id": "ENSP00000508379.1",
          "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": 4883,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "n.3026T>C",
          "hgvs_p": null,
          "transcript": "NR_111960.2",
          "protein_id": null,
          "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": 5825,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "n.3263T>C",
          "hgvs_p": null,
          "transcript": "XR_007068200.1",
          "protein_id": null,
          "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": 4659,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "n.*2031T>C",
          "hgvs_p": null,
          "transcript": "ENST00000674541.1",
          "protein_id": "ENSP00000501919.1",
          "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": 5505,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "n.*2187T>C",
          "hgvs_p": null,
          "transcript": "ENST00000674659.1",
          "protein_id": "ENSP00000502255.1",
          "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": 5395,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "n.*1929T>C",
          "hgvs_p": null,
          "transcript": "ENST00000676085.1",
          "protein_id": "ENSP00000501752.1",
          "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": 5343,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "n.*2796T>C",
          "hgvs_p": null,
          "transcript": "ENST00000676133.1",
          "protein_id": "ENSP00000502586.1",
          "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": 6135,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "n.*2187T>C",
          "hgvs_p": null,
          "transcript": "ENST00000682908.1",
          "protein_id": "ENSP00000508158.1",
          "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": 5237,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "n.*2226T>C",
          "hgvs_p": null,
          "transcript": "ENST00000683425.1",
          "protein_id": "ENSP00000507291.1",
          "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": 5335,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM6A",
          "gene_hgnc_id": 12637,
          "hgvs_c": "n.*144T>C",
          "hgvs_p": null,
          "transcript": "ENST00000684352.1",
          "protein_id": "ENSP00000508379.1",
          "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": 4883,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "KDM6A",
      "gene_hgnc_id": 12637,
      "dbsnp": "rs374328447",
      "frequency_reference_population": 0.0000074368104,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 8,
      "gnomad_exomes_af": 0.00000743681,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 8,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.2540000081062317,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "REVEL",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.254,
      "revel_prediction": "Benign",
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.5,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 2.086,
      "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": -7,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4,BP6,BP7,BS2",
      "acmg_by_gene": [
        {
          "score": -7,
          "benign_score": 7,
          "pathogenic_score": 0,
          "criteria": [
            "BP4",
            "BP6",
            "BP7",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000611820.5",
          "gene_symbol": "KDM6A",
          "hgnc_id": 12637,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "XL,AD",
          "hgvs_c": "c.2899T>C",
          "hgvs_p": "p.Leu967Leu"
        }
      ],
      "clinvar_disease": "Kabuki syndrome 1,Kabuki syndrome 2",
      "clinvar_classification": "Conflicting classifications of pathogenicity",
      "clinvar_review_status": "criteria provided, conflicting classifications",
      "clinvar_submissions_summary": "US:1 LB:1",
      "phenotype_combined": "Kabuki syndrome 1|Kabuki syndrome 2",
      "pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
      "custom_annotations": null
    }
  ],
  "message": null
}