← 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-41534945-AT-GC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=41534945&ref=AT&alt=GC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1_Very_Strong",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CASK",
"hgnc_id": 1497,
"hgvs_c": "c.2183_2184delATinsGC",
"hgvs_p": "p.Tyr728Cys",
"inheritance_mode": "AD,XL",
"pathogenic_score": 9,
"score": 9,
"transcript": "NM_001367721.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PS1_Very_Strong,PP3",
"acmg_score": 9,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "X",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 926,
"aa_ref": "Y",
"aa_start": 728,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8833,
"cdna_start": 2750,
"cds_end": null,
"cds_length": 2781,
"cds_start": 2183,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001367721.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2183_2184delATinsGC",
"hgvs_p": "p.Tyr728Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000378163.7",
"protein_coding": true,
"protein_id": "NP_001354650.1",
"strand": false,
"transcript": "NM_001367721.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 926,
"aa_ref": "Y",
"aa_start": 728,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8833,
"cdna_start": 2750,
"cds_end": null,
"cds_length": 2781,
"cds_start": 2183,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000378163.7",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2183_2184delATinsGC",
"hgvs_p": "p.Tyr728Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001367721.1",
"protein_coding": true,
"protein_id": "ENSP00000367405.1",
"strand": false,
"transcript": "ENST00000378163.7",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 903,
"aa_ref": "Y",
"aa_start": 705,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8220,
"cdna_start": 2137,
"cds_end": null,
"cds_length": 2712,
"cds_start": 2114,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000421587.8",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2114_2115delATinsGC",
"hgvs_p": "p.Tyr705Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400526.4",
"strand": false,
"transcript": "ENST00000421587.8",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 892,
"aa_ref": "Y",
"aa_start": 694,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3244,
"cdna_start": 2124,
"cds_end": null,
"cds_length": 2679,
"cds_start": 2081,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000378166.9",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2081_2082delATinsGC",
"hgvs_p": "p.Tyr694Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367408.5",
"strand": false,
"transcript": "ENST00000378166.9",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 880,
"aa_ref": "Y",
"aa_start": 682,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3758,
"cdna_start": 2219,
"cds_end": null,
"cds_length": 2643,
"cds_start": 2045,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000442742.7",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2045_2046delATinsGC",
"hgvs_p": "p.Tyr682Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398007.3",
"strand": false,
"transcript": "ENST00000442742.7",
"transcript_support_level": 1
},
{
"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": 3240,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000378179.9",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "n.1449_1450delATinsGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000378179.9",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 960,
"aa_ref": "Y",
"aa_start": 722,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4722,
"cdna_start": 2794,
"cds_end": null,
"cds_length": 2883,
"cds_start": 2165,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915521.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2165_2166delATinsGC",
"hgvs_p": "p.Tyr722Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585579.1",
"strand": false,
"transcript": "ENST00000915521.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 955,
"aa_ref": "Y",
"aa_start": 717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4550,
"cdna_start": 2680,
"cds_end": null,
"cds_length": 2868,
"cds_start": 2150,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000645986.2",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2150_2151delATinsGC",
"hgvs_p": "p.Tyr717Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494409.2",
"strand": false,
"transcript": "ENST00000645986.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 948,
"aa_ref": "Y",
"aa_start": 710,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4730,
"cdna_start": 2802,
"cds_end": null,
"cds_length": 2847,
"cds_start": 2129,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915520.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2129_2130delATinsGC",
"hgvs_p": "p.Tyr710Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585578.1",
"strand": false,
"transcript": "ENST00000915520.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 943,
"aa_ref": "Y",
"aa_start": 705,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4520,
"cdna_start": 2605,
"cds_end": null,
"cds_length": 2832,
"cds_start": 2114,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956255.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2114_2115delATinsGC",
"hgvs_p": "p.Tyr705Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626314.1",
"strand": false,
"transcript": "ENST00000956255.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 937,
"aa_ref": "Y",
"aa_start": 699,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4612,
"cdna_start": 2663,
"cds_end": null,
"cds_length": 2814,
"cds_start": 2096,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956252.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2096_2097delATinsGC",
"hgvs_p": "p.Tyr699Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626311.1",
"strand": false,
"transcript": "ENST00000956252.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 927,
"aa_ref": "Y",
"aa_start": 729,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8799,
"cdna_start": 2716,
"cds_end": null,
"cds_length": 2784,
"cds_start": 2186,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000378168.8",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2186_2187delATinsGC",
"hgvs_p": "p.Tyr729Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367410.4",
"strand": false,
"transcript": "ENST00000378168.8",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 925,
"aa_ref": "Y",
"aa_start": 687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4483,
"cdna_start": 2553,
"cds_end": null,
"cds_length": 2778,
"cds_start": 2060,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956254.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2060_2061delATinsGC",
"hgvs_p": "p.Tyr687Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626313.1",
"strand": false,
"transcript": "ENST00000956254.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 921,
"aa_ref": "Y",
"aa_start": 723,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8818,
"cdna_start": 2735,
"cds_end": null,
"cds_length": 2766,
"cds_start": 2168,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003688.4",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2168_2169delATinsGC",
"hgvs_p": "p.Tyr723Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003679.2",
"strand": false,
"transcript": "NM_003688.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 921,
"aa_ref": "Y",
"aa_start": 723,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4002,
"cdna_start": 2196,
"cds_end": null,
"cds_length": 2766,
"cds_start": 2168,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000645566.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2168_2169delATinsGC",
"hgvs_p": "p.Tyr723Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494788.1",
"strand": false,
"transcript": "ENST00000645566.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 920,
"aa_ref": "Y",
"aa_start": 722,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8815,
"cdna_start": 2732,
"cds_end": null,
"cds_length": 2763,
"cds_start": 2165,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001410745.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2165_2166delATinsGC",
"hgvs_p": "p.Tyr722Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397674.1",
"strand": false,
"transcript": "NM_001410745.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 920,
"aa_ref": "Y",
"aa_start": 722,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6048,
"cdna_start": 2339,
"cds_end": null,
"cds_length": 2763,
"cds_start": 2165,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000644219.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2165_2166delATinsGC",
"hgvs_p": "p.Tyr722Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495357.1",
"strand": false,
"transcript": "ENST00000644219.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 914,
"aa_ref": "Y",
"aa_start": 716,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8899,
"cdna_start": 2816,
"cds_end": null,
"cds_length": 2745,
"cds_start": 2147,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915519.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2147_2148delATinsGC",
"hgvs_p": "p.Tyr716Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585577.1",
"strand": false,
"transcript": "ENST00000915519.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 909,
"aa_ref": "Y",
"aa_start": 711,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4037,
"cdna_start": 2574,
"cds_end": null,
"cds_length": 2730,
"cds_start": 2132,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000378154.3",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2132_2133delATinsGC",
"hgvs_p": "p.Tyr711Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367396.2",
"strand": false,
"transcript": "ENST00000378154.3",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 908,
"aa_ref": "Y",
"aa_start": 710,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3754,
"cdna_start": 2286,
"cds_end": null,
"cds_length": 2727,
"cds_start": 2129,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000378158.6",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2129_2130delATinsGC",
"hgvs_p": "p.Tyr710Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367400.2",
"strand": false,
"transcript": "ENST00000378158.6",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 904,
"aa_ref": "Y",
"aa_start": 706,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8730,
"cdna_start": 2647,
"cds_end": null,
"cds_length": 2715,
"cds_start": 2117,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675354.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2117_2118delATinsGC",
"hgvs_p": "p.Tyr706Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502315.1",
"strand": false,
"transcript": "ENST00000675354.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 898,
"aa_ref": "Y",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8749,
"cdna_start": 2666,
"cds_end": null,
"cds_length": 2697,
"cds_start": 2099,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001126054.3",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2099_2100delATinsGC",
"hgvs_p": "p.Tyr700Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001119526.1",
"strand": false,
"transcript": "NM_001126054.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 898,
"aa_ref": "Y",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3239,
"cdna_start": 2119,
"cds_end": null,
"cds_length": 2697,
"cds_start": 2099,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000646120.2",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2099_2100delATinsGC",
"hgvs_p": "p.Tyr700Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495291.2",
"strand": false,
"transcript": "ENST00000646120.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 897,
"aa_ref": "Y",
"aa_start": 699,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8746,
"cdna_start": 2663,
"cds_end": null,
"cds_length": 2694,
"cds_start": 2096,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001126055.3",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2096_2097delATinsGC",
"hgvs_p": "p.Tyr699Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001119527.1",
"strand": false,
"transcript": "NM_001126055.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 897,
"aa_ref": "Y",
"aa_start": 699,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8361,
"cdna_start": 2278,
"cds_end": null,
"cds_length": 2694,
"cds_start": 2096,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000644347.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2096_2097delATinsGC",
"hgvs_p": "p.Tyr699Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494183.1",
"strand": false,
"transcript": "ENST00000644347.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 897,
"aa_ref": "Y",
"aa_start": 699,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4407,
"cdna_start": 2602,
"cds_end": null,
"cds_length": 2694,
"cds_start": 2096,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915522.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2096_2097delATinsGC",
"hgvs_p": "p.Tyr699Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585580.1",
"strand": false,
"transcript": "ENST00000915522.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 896,
"aa_ref": "Y",
"aa_start": 698,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4445,
"cdna_start": 2642,
"cds_end": null,
"cds_length": 2691,
"cds_start": 2093,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956253.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2093_2094delATinsGC",
"hgvs_p": "p.Tyr698Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626312.1",
"strand": false,
"transcript": "ENST00000956253.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 862,
"aa_ref": "Y",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3703,
"cdna_start": 2228,
"cds_end": null,
"cds_length": 2589,
"cds_start": 1991,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956257.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.1991_1992delATinsGC",
"hgvs_p": "p.Tyr664Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626316.1",
"strand": false,
"transcript": "ENST00000956257.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 857,
"aa_ref": "Y",
"aa_start": 659,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4252,
"cdna_start": 2449,
"cds_end": null,
"cds_length": 2574,
"cds_start": 1976,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956256.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.1976_1977delATinsGC",
"hgvs_p": "p.Tyr659Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626315.1",
"strand": false,
"transcript": "ENST00000956256.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 700,
"aa_ref": "Y",
"aa_start": 502,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3392,
"cdna_start": 1640,
"cds_end": null,
"cds_length": 2103,
"cds_start": 1505,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000646087.2",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.1505_1506delATinsGC",
"hgvs_p": "p.Tyr502Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495510.2",
"strand": false,
"transcript": "ENST00000646087.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 926,
"aa_ref": "Y",
"aa_start": 728,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8313,
"cdna_start": 2230,
"cds_end": null,
"cds_length": 2781,
"cds_start": 2183,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011543993.3",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2183_2184delATinsGC",
"hgvs_p": "p.Tyr728Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542295.1",
"strand": false,
"transcript": "XM_011543993.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 914,
"aa_ref": "Y",
"aa_start": 716,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8277,
"cdna_start": 2194,
"cds_end": null,
"cds_length": 2745,
"cds_start": 2147,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011543994.3",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2147_2148delATinsGC",
"hgvs_p": "p.Tyr716Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542296.1",
"strand": false,
"transcript": "XM_011543994.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 908,
"aa_ref": "Y",
"aa_start": 710,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8259,
"cdna_start": 2176,
"cds_end": null,
"cds_length": 2727,
"cds_start": 2129,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047442601.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2129_2130delATinsGC",
"hgvs_p": "p.Tyr710Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298557.1",
"strand": false,
"transcript": "XM_047442601.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 903,
"aa_ref": "Y",
"aa_start": 705,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8244,
"cdna_start": 2161,
"cds_end": null,
"cds_length": 2712,
"cds_start": 2114,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011543995.3",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2114_2115delATinsGC",
"hgvs_p": "p.Tyr705Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542297.1",
"strand": false,
"transcript": "XM_011543995.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 891,
"aa_ref": "Y",
"aa_start": 693,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8208,
"cdna_start": 2125,
"cds_end": null,
"cds_length": 2676,
"cds_start": 2078,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011543996.3",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2078_2079delATinsGC",
"hgvs_p": "p.Tyr693Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542298.1",
"strand": false,
"transcript": "XM_011543996.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 885,
"aa_ref": "Y",
"aa_start": 687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8190,
"cdna_start": 2107,
"cds_end": null,
"cds_length": 2658,
"cds_start": 2060,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006724566.4",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2060_2061delATinsGC",
"hgvs_p": "p.Tyr687Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006724629.1",
"strand": false,
"transcript": "XM_006724566.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 735,
"aa_ref": "Y",
"aa_start": 537,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7833,
"cdna_start": 1750,
"cds_end": null,
"cds_length": 2208,
"cds_start": 1610,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011543997.4",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.1610_1611delATinsGC",
"hgvs_p": "p.Tyr537Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542299.1",
"strand": false,
"transcript": "XM_011543997.4",
"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": 2746,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000642499.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "n.962_963delATinsGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000642499.1",
"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": 4216,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000645937.2",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "n.2414_2415delATinsGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000645937.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 192,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 667,
"cdna_start": null,
"cds_end": null,
"cds_length": 579,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000643733.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.-47_-46delATinsGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496319.1",
"strand": true,
"transcript": "ENST00000643733.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.674,
"pos": 41534945,
"ref": "AT",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001367721.1"
}
]
}