← 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-45069832-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=45069832&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KDM6A",
"hgnc_id": 12637,
"hgvs_c": "c.2333C>T",
"hgvs_p": "p.Thr778Met",
"inheritance_mode": "XL,AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001419809.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 309,
"alphamissense_prediction": null,
"alphamissense_score": 0.0689,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.78,
"chr": "X",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Kabuki syndrome 2,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.038688868284225464,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1453,
"aa_ref": "T",
"aa_start": 778,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6094,
"cdna_start": 2697,
"cds_end": null,
"cds_length": 4362,
"cds_start": 2333,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001291415.2",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2333C>T",
"hgvs_p": "p.Thr778Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000611820.5",
"protein_coding": true,
"protein_id": "NP_001278344.1",
"strand": true,
"transcript": "NM_001291415.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1453,
"aa_ref": "T",
"aa_start": 778,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6094,
"cdna_start": 2697,
"cds_end": null,
"cds_length": 4362,
"cds_start": 2333,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000611820.5",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2333C>T",
"hgvs_p": "p.Thr778Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001291415.2",
"protein_coding": true,
"protein_id": "ENSP00000483595.2",
"strand": true,
"transcript": "ENST00000611820.5",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1408,
"aa_ref": "T",
"aa_start": 733,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5778,
"cdna_start": 2562,
"cds_end": null,
"cds_length": 4227,
"cds_start": 2198,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000382899.9",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2198C>T",
"hgvs_p": "p.Thr733Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000372355.6",
"strand": true,
"transcript": "ENST00000382899.9",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1401,
"aa_ref": "T",
"aa_start": 726,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5761,
"cdna_start": 2541,
"cds_end": null,
"cds_length": 4206,
"cds_start": 2177,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000377967.9",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2177C>T",
"hgvs_p": "p.Thr726Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367203.4",
"strand": true,
"transcript": "ENST00000377967.9",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1356,
"aa_ref": "T",
"aa_start": 681,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5622,
"cdna_start": 2406,
"cds_end": null,
"cds_length": 4071,
"cds_start": 2042,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000536777.6",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2042C>T",
"hgvs_p": "p.Thr681Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437405.3",
"strand": true,
"transcript": "ENST00000536777.6",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1322,
"aa_ref": "T",
"aa_start": 647,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5520,
"cdna_start": 2304,
"cds_end": null,
"cds_length": 3969,
"cds_start": 1940,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000543216.6",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.1940C>T",
"hgvs_p": "p.Thr647Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443078.3",
"strand": true,
"transcript": "ENST00000543216.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2595,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000621147.5",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "n.*1171C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000478793.1",
"strand": true,
"transcript": "ENST00000621147.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2595,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000621147.5",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "n.*1171C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000478793.1",
"strand": true,
"transcript": "ENST00000621147.5",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1489,
"aa_ref": "T",
"aa_start": 778,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6202,
"cdna_start": 2697,
"cds_end": null,
"cds_length": 4470,
"cds_start": 2333,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001419809.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2333C>T",
"hgvs_p": "p.Thr778Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001406738.1",
"strand": true,
"transcript": "NM_001419809.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1455,
"aa_ref": "T",
"aa_start": 744,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6100,
"cdna_start": 2595,
"cds_end": null,
"cds_length": 4368,
"cds_start": 2231,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001419810.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2231C>T",
"hgvs_p": "p.Thr744Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001406739.1",
"strand": true,
"transcript": "NM_001419810.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1444,
"aa_ref": "T",
"aa_start": 733,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6067,
"cdna_start": 2562,
"cds_end": null,
"cds_length": 4335,
"cds_start": 2198,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001419811.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2198C>T",
"hgvs_p": "p.Thr733Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001406740.1",
"strand": true,
"transcript": "NM_001419811.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1437,
"aa_ref": "T",
"aa_start": 726,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6046,
"cdna_start": 2541,
"cds_end": null,
"cds_length": 4314,
"cds_start": 2177,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001419812.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2177C>T",
"hgvs_p": "p.Thr726Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001406741.1",
"strand": true,
"transcript": "NM_001419812.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1427,
"aa_ref": "T",
"aa_start": 752,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5779,
"cdna_start": 2619,
"cds_end": null,
"cds_length": 4284,
"cds_start": 2255,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000674586.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2255C>T",
"hgvs_p": "p.Thr752Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502660.1",
"strand": true,
"transcript": "ENST00000674586.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1419,
"aa_ref": "T",
"aa_start": 744,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5992,
"cdna_start": 2595,
"cds_end": null,
"cds_length": 4260,
"cds_start": 2231,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001419813.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2231C>T",
"hgvs_p": "p.Thr744Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001406742.1",
"strand": true,
"transcript": "NM_001419813.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1419,
"aa_ref": "T",
"aa_start": 744,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5566,
"cdna_start": 2653,
"cds_end": null,
"cds_length": 4260,
"cds_start": 2231,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000867282.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2231C>T",
"hgvs_p": "p.Thr744Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537341.1",
"strand": true,
"transcript": "ENST00000867282.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1408,
"aa_ref": "T",
"aa_start": 733,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5959,
"cdna_start": 2562,
"cds_end": null,
"cds_length": 4227,
"cds_start": 2198,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001291416.2",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2198C>T",
"hgvs_p": "p.Thr733Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278345.1",
"strand": true,
"transcript": "NM_001291416.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1403,
"aa_ref": "T",
"aa_start": 692,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5944,
"cdna_start": 2439,
"cds_end": null,
"cds_length": 4212,
"cds_start": 2075,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001419814.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2075C>T",
"hgvs_p": "p.Thr692Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001406743.1",
"strand": true,
"transcript": "NM_001419814.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1401,
"aa_ref": "T",
"aa_start": 726,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5938,
"cdna_start": 2541,
"cds_end": null,
"cds_length": 4206,
"cds_start": 2177,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_021140.4",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2177C>T",
"hgvs_p": "p.Thr726Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_066963.2",
"strand": true,
"transcript": "NM_021140.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1399,
"aa_ref": "T",
"aa_start": 724,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5375,
"cdna_start": 2535,
"cds_end": null,
"cds_length": 4200,
"cds_start": 2171,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000867283.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2171C>T",
"hgvs_p": "p.Thr724Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537342.1",
"strand": true,
"transcript": "ENST00000867283.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1374,
"aa_ref": "T",
"aa_start": 699,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5256,
"cdna_start": 2096,
"cds_end": null,
"cds_length": 4125,
"cds_start": 2096,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000683021.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2096C>T",
"hgvs_p": "p.Thr699Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507416.1",
"strand": true,
"transcript": "ENST00000683021.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1367,
"aa_ref": "T",
"aa_start": 692,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5836,
"cdna_start": 2439,
"cds_end": null,
"cds_length": 4104,
"cds_start": 2075,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001410742.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2075C>T",
"hgvs_p": "p.Thr692Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397671.1",
"strand": true,
"transcript": "NM_001410742.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1367,
"aa_ref": "T",
"aa_start": 692,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5599,
"cdna_start": 2439,
"cds_end": null,
"cds_length": 4104,
"cds_start": 2075,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000675577.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2075C>T",
"hgvs_p": "p.Thr692Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501855.1",
"strand": true,
"transcript": "ENST00000675577.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1358,
"aa_ref": "T",
"aa_start": 647,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5809,
"cdna_start": 2304,
"cds_end": null,
"cds_length": 4077,
"cds_start": 1940,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001419815.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.1940C>T",
"hgvs_p": "p.Thr647Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001406744.1",
"strand": true,
"transcript": "NM_001419815.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1356,
"aa_ref": "T",
"aa_start": 681,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5803,
"cdna_start": 2406,
"cds_end": null,
"cds_length": 4071,
"cds_start": 2042,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001291417.2",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2042C>T",
"hgvs_p": "p.Thr681Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278346.1",
"strand": true,
"transcript": "NM_001291417.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1355,
"aa_ref": "T",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5563,
"cdna_start": 2403,
"cds_end": null,
"cds_length": 4068,
"cds_start": 2039,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000674867.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2039C>T",
"hgvs_p": "p.Thr680Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502060.1",
"strand": true,
"transcript": "ENST00000674867.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1334,
"aa_ref": "T",
"aa_start": 659,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5540,
"cdna_start": 2324,
"cds_end": null,
"cds_length": 4005,
"cds_start": 1976,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000967038.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.1976C>T",
"hgvs_p": "p.Thr659Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637097.1",
"strand": true,
"transcript": "ENST00000967038.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1322,
"aa_ref": "T",
"aa_start": 647,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5701,
"cdna_start": 2304,
"cds_end": null,
"cds_length": 3969,
"cds_start": 1940,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001291418.2",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.1940C>T",
"hgvs_p": "p.Thr647Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278347.1",
"strand": true,
"transcript": "NM_001291418.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1105,
"aa_ref": "T",
"aa_start": 430,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5682,
"cdna_start": 2285,
"cds_end": null,
"cds_length": 3318,
"cds_start": 1289,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001291421.2",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.1289C>T",
"hgvs_p": "p.Thr430Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278350.1",
"strand": true,
"transcript": "NM_001291421.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1410,
"aa_ref": "T",
"aa_start": 699,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5965,
"cdna_start": 2460,
"cds_end": null,
"cds_length": 4233,
"cds_start": 2096,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_011543969.4",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2096C>T",
"hgvs_p": "p.Thr699Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542271.1",
"strand": true,
"transcript": "XM_011543969.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1392,
"aa_ref": "T",
"aa_start": 681,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5911,
"cdna_start": 2406,
"cds_end": null,
"cds_length": 4179,
"cds_start": 2042,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_011543972.4",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2042C>T",
"hgvs_p": "p.Thr681Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542274.1",
"strand": true,
"transcript": "XM_011543972.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1374,
"aa_ref": "T",
"aa_start": 699,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5857,
"cdna_start": 2460,
"cds_end": null,
"cds_length": 4125,
"cds_start": 2096,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_017029783.3",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2096C>T",
"hgvs_p": "p.Thr699Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016885272.1",
"strand": true,
"transcript": "XM_017029783.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1314,
"aa_ref": "T",
"aa_start": 603,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5711,
"cdna_start": 2206,
"cds_end": null,
"cds_length": 3945,
"cds_start": 1808,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_024452439.2",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.1808C>T",
"hgvs_p": "p.Thr603Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024308207.1",
"strand": true,
"transcript": "XM_024452439.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1314,
"aa_ref": "T",
"aa_start": 603,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5658,
"cdna_start": 2153,
"cds_end": null,
"cds_length": 3945,
"cds_start": 1808,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047442428.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.1808C>T",
"hgvs_p": "p.Thr603Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298384.1",
"strand": true,
"transcript": "XM_047442428.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1293,
"aa_ref": "T",
"aa_start": 726,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4246,
"cdna_start": 2541,
"cds_end": null,
"cds_length": 3882,
"cds_start": 2177,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_011543974.3",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2177C>T",
"hgvs_p": "p.Thr726Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542276.1",
"strand": true,
"transcript": "XM_011543974.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1226,
"aa_ref": "T",
"aa_start": 551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5447,
"cdna_start": 2050,
"cds_end": null,
"cds_length": 3681,
"cds_start": 1652,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047442429.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.1652C>T",
"hgvs_p": "p.Thr551Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298385.1",
"strand": true,
"transcript": "XM_047442429.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1199,
"aa_ref": "T",
"aa_start": 778,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4067,
"cdna_start": 2697,
"cds_end": null,
"cds_length": 3600,
"cds_start": 2333,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047442430.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2333C>T",
"hgvs_p": "p.Thr778Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298386.1",
"strand": true,
"transcript": "XM_047442430.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1102,
"aa_ref": "T",
"aa_start": 681,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3776,
"cdna_start": 2406,
"cds_end": null,
"cds_length": 3309,
"cds_start": 2042,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047442431.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2042C>T",
"hgvs_p": "p.Thr681Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298387.1",
"strand": true,
"transcript": "XM_047442431.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5505,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000674541.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "n.*1465C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501919.1",
"strand": true,
"transcript": "ENST00000674541.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5644,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 28,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000674564.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "n.2096C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502150.1",
"strand": true,
"transcript": "ENST00000674564.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5395,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000674659.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "n.*1621C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502255.1",
"strand": true,
"transcript": "ENST00000674659.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 6395,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 28,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000674739.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "n.3235C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000674739.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4944,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 25,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000675157.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "n.1784C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000675157.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5377,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 29,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000675182.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "n.2217C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000675182.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4634,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000675440.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "n.2353C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000675440.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5642,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 29,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000675514.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "n.2177C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502759.1",
"strand": true,
"transcript": "ENST00000675514.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 7459,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000675525.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "n.4299C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000675525.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 12117,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000675546.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "n.2544C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000675546.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 6164,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 29,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000675816.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "n.2353C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000675816.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5677,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000676062.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "n.2198C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502311.1",
"strand": true,
"transcript": "ENST00000676062.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5343,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000676085.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "n.*1363C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501752.1",
"strand": true,
"transcript": "ENST00000676085.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 6135,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 29,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000676133.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "n.*2230C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502586.1",
"strand": true,
"transcript": "ENST00000676133.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5363,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 28,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000676343.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "n.2198C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501761.1",
"strand": true,
"transcript": "ENST00000676343.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5780,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 29,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000676389.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "n.2620C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000676389.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5237,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 28,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000682908.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "n.*1621C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000508158.1",
"strand": true,
"transcript": "ENST00000682908.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5335,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 28,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000683425.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "n.*1660C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507291.1",
"strand": true,
"transcript": "ENST00000683425.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4883,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000684352.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "n.2198C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000508379.1",
"strand": true,
"transcript": "ENST00000684352.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5825,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 28,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NR_111960.2",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "n.2460C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_111960.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4659,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 29,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XR_007068200.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "n.2697C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007068200.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5505,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 27,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000674541.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "n.*1465C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501919.1",
"strand": true,
"transcript": "ENST00000674541.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5395,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 27,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000674659.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "n.*1621C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502255.1",
"strand": true,
"transcript": "ENST00000674659.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5343,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 26,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000676085.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "n.*1363C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501752.1",
"strand": true,
"transcript": "ENST00000676085.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 6135,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 29,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000676133.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "n.*2230C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502586.1",
"strand": true,
"transcript": "ENST00000676133.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5237,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 28,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000682908.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "n.*1621C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000508158.1",
"strand": true,
"transcript": "ENST00000682908.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5335,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 28,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000683425.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "n.*1660C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507291.1",
"strand": true,
"transcript": "ENST00000683425.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2230018",
"effect": "missense_variant",
"frequency_reference_population": 0.0002556366,
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"gnomad_exomes_ac": 287,
"gnomad_exomes_af": 0.000261507,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 22,
"gnomad_genomes_af": 0.000197731,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 114,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign/Likely benign",
"phenotype_combined": "not specified|Kabuki syndrome 2|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.985,
"pos": 45069832,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.062,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001419809.1"
}
]
}