← 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-41534726-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=41534726&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CASK",
"hgnc_id": 1497,
"hgvs_c": "c.2297G>C",
"hgvs_p": "p.Arg766Pro",
"inheritance_mode": "AD,XL",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001367721.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.9802,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.25,
"chr": "X",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8727266192436218,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 926,
"aa_ref": "R",
"aa_start": 766,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8833,
"cdna_start": 2863,
"cds_end": null,
"cds_length": 2781,
"cds_start": 2297,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001367721.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2297G>C",
"hgvs_p": "p.Arg766Pro",
"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": "P",
"aa_end": null,
"aa_length": 926,
"aa_ref": "R",
"aa_start": 766,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8833,
"cdna_start": 2863,
"cds_end": null,
"cds_length": 2781,
"cds_start": 2297,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000378163.7",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2297G>C",
"hgvs_p": "p.Arg766Pro",
"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": "P",
"aa_end": null,
"aa_length": 903,
"aa_ref": "R",
"aa_start": 743,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8220,
"cdna_start": 2250,
"cds_end": null,
"cds_length": 2712,
"cds_start": 2228,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000421587.8",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2228G>C",
"hgvs_p": "p.Arg743Pro",
"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": "P",
"aa_end": null,
"aa_length": 892,
"aa_ref": "R",
"aa_start": 732,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3244,
"cdna_start": 2237,
"cds_end": null,
"cds_length": 2679,
"cds_start": 2195,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000378166.9",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2195G>C",
"hgvs_p": "p.Arg732Pro",
"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": "P",
"aa_end": null,
"aa_length": 880,
"aa_ref": "R",
"aa_start": 720,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3758,
"cdna_start": 2332,
"cds_end": null,
"cds_length": 2643,
"cds_start": 2159,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000442742.7",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2159G>C",
"hgvs_p": "p.Arg720Pro",
"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": 11,
"exon_rank_end": null,
"feature": "ENST00000378179.9",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "n.1563G>C",
"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": "P",
"aa_end": null,
"aa_length": 960,
"aa_ref": "R",
"aa_start": 760,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4722,
"cdna_start": 2907,
"cds_end": null,
"cds_length": 2883,
"cds_start": 2279,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000915521.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2279G>C",
"hgvs_p": "p.Arg760Pro",
"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": "P",
"aa_end": null,
"aa_length": 955,
"aa_ref": "R",
"aa_start": 755,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4550,
"cdna_start": 2793,
"cds_end": null,
"cds_length": 2868,
"cds_start": 2264,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000645986.2",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2264G>C",
"hgvs_p": "p.Arg755Pro",
"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": "P",
"aa_end": null,
"aa_length": 948,
"aa_ref": "R",
"aa_start": 748,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4730,
"cdna_start": 2915,
"cds_end": null,
"cds_length": 2847,
"cds_start": 2243,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000915520.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2243G>C",
"hgvs_p": "p.Arg748Pro",
"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": "P",
"aa_end": null,
"aa_length": 943,
"aa_ref": "R",
"aa_start": 743,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4520,
"cdna_start": 2718,
"cds_end": null,
"cds_length": 2832,
"cds_start": 2228,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000956255.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2228G>C",
"hgvs_p": "p.Arg743Pro",
"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": "P",
"aa_end": null,
"aa_length": 937,
"aa_ref": "R",
"aa_start": 737,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4612,
"cdna_start": 2776,
"cds_end": null,
"cds_length": 2814,
"cds_start": 2210,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000956252.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2210G>C",
"hgvs_p": "p.Arg737Pro",
"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": "P",
"aa_end": null,
"aa_length": 927,
"aa_ref": "R",
"aa_start": 767,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8799,
"cdna_start": 2829,
"cds_end": null,
"cds_length": 2784,
"cds_start": 2300,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000378168.8",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2300G>C",
"hgvs_p": "p.Arg767Pro",
"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": "P",
"aa_end": null,
"aa_length": 925,
"aa_ref": "R",
"aa_start": 725,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4483,
"cdna_start": 2666,
"cds_end": null,
"cds_length": 2778,
"cds_start": 2174,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000956254.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2174G>C",
"hgvs_p": "p.Arg725Pro",
"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": "P",
"aa_end": null,
"aa_length": 921,
"aa_ref": "R",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8818,
"cdna_start": 2848,
"cds_end": null,
"cds_length": 2766,
"cds_start": 2282,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_003688.4",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2282G>C",
"hgvs_p": "p.Arg761Pro",
"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": "P",
"aa_end": null,
"aa_length": 921,
"aa_ref": "R",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4002,
"cdna_start": 2309,
"cds_end": null,
"cds_length": 2766,
"cds_start": 2282,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000645566.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2282G>C",
"hgvs_p": "p.Arg761Pro",
"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": "P",
"aa_end": null,
"aa_length": 920,
"aa_ref": "R",
"aa_start": 760,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8815,
"cdna_start": 2845,
"cds_end": null,
"cds_length": 2763,
"cds_start": 2279,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001410745.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2279G>C",
"hgvs_p": "p.Arg760Pro",
"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": "P",
"aa_end": null,
"aa_length": 920,
"aa_ref": "R",
"aa_start": 760,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6048,
"cdna_start": 2452,
"cds_end": null,
"cds_length": 2763,
"cds_start": 2279,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000644219.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2279G>C",
"hgvs_p": "p.Arg760Pro",
"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": "P",
"aa_end": null,
"aa_length": 914,
"aa_ref": "R",
"aa_start": 754,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8899,
"cdna_start": 2929,
"cds_end": null,
"cds_length": 2745,
"cds_start": 2261,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000915519.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2261G>C",
"hgvs_p": "p.Arg754Pro",
"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": "P",
"aa_end": null,
"aa_length": 909,
"aa_ref": "R",
"aa_start": 749,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4037,
"cdna_start": 2687,
"cds_end": null,
"cds_length": 2730,
"cds_start": 2246,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000378154.3",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2246G>C",
"hgvs_p": "p.Arg749Pro",
"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": "P",
"aa_end": null,
"aa_length": 908,
"aa_ref": "R",
"aa_start": 748,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3754,
"cdna_start": 2399,
"cds_end": null,
"cds_length": 2727,
"cds_start": 2243,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000378158.6",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2243G>C",
"hgvs_p": "p.Arg748Pro",
"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": "P",
"aa_end": null,
"aa_length": 904,
"aa_ref": "R",
"aa_start": 744,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8730,
"cdna_start": 2760,
"cds_end": null,
"cds_length": 2715,
"cds_start": 2231,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000675354.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2231G>C",
"hgvs_p": "p.Arg744Pro",
"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": "P",
"aa_end": null,
"aa_length": 898,
"aa_ref": "R",
"aa_start": 738,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8749,
"cdna_start": 2779,
"cds_end": null,
"cds_length": 2697,
"cds_start": 2213,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001126054.3",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2213G>C",
"hgvs_p": "p.Arg738Pro",
"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": "P",
"aa_end": null,
"aa_length": 898,
"aa_ref": "R",
"aa_start": 738,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3239,
"cdna_start": 2232,
"cds_end": null,
"cds_length": 2697,
"cds_start": 2213,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000646120.2",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2213G>C",
"hgvs_p": "p.Arg738Pro",
"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": "P",
"aa_end": null,
"aa_length": 897,
"aa_ref": "R",
"aa_start": 737,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8746,
"cdna_start": 2776,
"cds_end": null,
"cds_length": 2694,
"cds_start": 2210,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001126055.3",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2210G>C",
"hgvs_p": "p.Arg737Pro",
"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": "P",
"aa_end": null,
"aa_length": 897,
"aa_ref": "R",
"aa_start": 737,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8361,
"cdna_start": 2391,
"cds_end": null,
"cds_length": 2694,
"cds_start": 2210,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000644347.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2210G>C",
"hgvs_p": "p.Arg737Pro",
"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": "P",
"aa_end": null,
"aa_length": 897,
"aa_ref": "R",
"aa_start": 737,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4407,
"cdna_start": 2715,
"cds_end": null,
"cds_length": 2694,
"cds_start": 2210,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000915522.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2210G>C",
"hgvs_p": "p.Arg737Pro",
"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": "P",
"aa_end": null,
"aa_length": 896,
"aa_ref": "R",
"aa_start": 736,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4445,
"cdna_start": 2755,
"cds_end": null,
"cds_length": 2691,
"cds_start": 2207,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000956253.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2207G>C",
"hgvs_p": "p.Arg736Pro",
"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": "P",
"aa_end": null,
"aa_length": 862,
"aa_ref": "R",
"aa_start": 702,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3703,
"cdna_start": 2341,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2105,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000956257.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2105G>C",
"hgvs_p": "p.Arg702Pro",
"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": "P",
"aa_end": null,
"aa_length": 857,
"aa_ref": "R",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4252,
"cdna_start": 2562,
"cds_end": null,
"cds_length": 2574,
"cds_start": 2090,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000956256.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2090G>C",
"hgvs_p": "p.Arg697Pro",
"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": "P",
"aa_end": null,
"aa_length": 700,
"aa_ref": "R",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3392,
"cdna_start": 1753,
"cds_end": null,
"cds_length": 2103,
"cds_start": 1619,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000646087.2",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.1619G>C",
"hgvs_p": "p.Arg540Pro",
"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": "P",
"aa_end": null,
"aa_length": 192,
"aa_ref": "R",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 667,
"cdna_start": 69,
"cds_end": null,
"cds_length": 579,
"cds_start": 68,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000643733.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.68G>C",
"hgvs_p": "p.Arg23Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496319.1",
"strand": false,
"transcript": "ENST00000643733.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 926,
"aa_ref": "R",
"aa_start": 766,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8313,
"cdna_start": 2343,
"cds_end": null,
"cds_length": 2781,
"cds_start": 2297,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_011543993.3",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2297G>C",
"hgvs_p": "p.Arg766Pro",
"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": "P",
"aa_end": null,
"aa_length": 914,
"aa_ref": "R",
"aa_start": 754,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8277,
"cdna_start": 2307,
"cds_end": null,
"cds_length": 2745,
"cds_start": 2261,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_011543994.3",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2261G>C",
"hgvs_p": "p.Arg754Pro",
"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": "P",
"aa_end": null,
"aa_length": 908,
"aa_ref": "R",
"aa_start": 748,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8259,
"cdna_start": 2289,
"cds_end": null,
"cds_length": 2727,
"cds_start": 2243,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_047442601.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2243G>C",
"hgvs_p": "p.Arg748Pro",
"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": "P",
"aa_end": null,
"aa_length": 903,
"aa_ref": "R",
"aa_start": 743,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8244,
"cdna_start": 2274,
"cds_end": null,
"cds_length": 2712,
"cds_start": 2228,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_011543995.3",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2228G>C",
"hgvs_p": "p.Arg743Pro",
"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": "P",
"aa_end": null,
"aa_length": 891,
"aa_ref": "R",
"aa_start": 731,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8208,
"cdna_start": 2238,
"cds_end": null,
"cds_length": 2676,
"cds_start": 2192,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_011543996.3",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2192G>C",
"hgvs_p": "p.Arg731Pro",
"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": "P",
"aa_end": null,
"aa_length": 885,
"aa_ref": "R",
"aa_start": 725,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8190,
"cdna_start": 2220,
"cds_end": null,
"cds_length": 2658,
"cds_start": 2174,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_006724566.4",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2174G>C",
"hgvs_p": "p.Arg725Pro",
"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": "P",
"aa_end": null,
"aa_length": 735,
"aa_ref": "R",
"aa_start": 575,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7833,
"cdna_start": 1863,
"cds_end": null,
"cds_length": 2208,
"cds_start": 1724,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_011543997.4",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.1724G>C",
"hgvs_p": "p.Arg575Pro",
"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": 5,
"exon_rank_end": null,
"feature": "ENST00000642499.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "n.1076G>C",
"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": 10,
"exon_rank_end": null,
"feature": "ENST00000645937.2",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "n.2528G>C",
"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
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs137964936",
"effect": "missense_variant",
"frequency_reference_population": 9.141904e-7,
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 9.1419e-7,
"gnomad_exomes_homalt": 0,
"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": 7.568,
"pos": 41534726,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.702,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001367721.1"
}
]
}