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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: X-41531094-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=41531094&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 41531094,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000378163.7",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.2433C>T",
"hgvs_p": "p.His811His",
"transcript": "NM_001367721.1",
"protein_id": "NP_001354650.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 926,
"cds_start": 2433,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 2999,
"cdna_end": null,
"cdna_length": 8833,
"mane_select": "ENST00000378163.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.2433C>T",
"hgvs_p": "p.His811His",
"transcript": "ENST00000378163.7",
"protein_id": "ENSP00000367405.1",
"transcript_support_level": 5,
"aa_start": 811,
"aa_end": null,
"aa_length": 926,
"cds_start": 2433,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 2999,
"cdna_end": null,
"cdna_length": 8833,
"mane_select": "NM_001367721.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.His788His",
"transcript": "ENST00000421587.8",
"protein_id": "ENSP00000400526.4",
"transcript_support_level": 1,
"aa_start": 788,
"aa_end": null,
"aa_length": 903,
"cds_start": 2364,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 2386,
"cdna_end": null,
"cdna_length": 8220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.2331C>T",
"hgvs_p": "p.His777His",
"transcript": "ENST00000378166.9",
"protein_id": "ENSP00000367408.5",
"transcript_support_level": 1,
"aa_start": 777,
"aa_end": null,
"aa_length": 892,
"cds_start": 2331,
"cds_end": null,
"cds_length": 2679,
"cdna_start": 2373,
"cdna_end": null,
"cdna_length": 3244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.2295C>T",
"hgvs_p": "p.His765His",
"transcript": "ENST00000442742.7",
"protein_id": "ENSP00000398007.3",
"transcript_support_level": 1,
"aa_start": 765,
"aa_end": null,
"aa_length": 880,
"cds_start": 2295,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 2468,
"cdna_end": null,
"cdna_length": 3758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "n.1699C>T",
"hgvs_p": null,
"transcript": "ENST00000378179.9",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.2400C>T",
"hgvs_p": "p.His800His",
"transcript": "ENST00000645986.2",
"protein_id": "ENSP00000494409.2",
"transcript_support_level": null,
"aa_start": 800,
"aa_end": null,
"aa_length": 955,
"cds_start": 2400,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 2929,
"cdna_end": null,
"cdna_length": 4550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.2436C>T",
"hgvs_p": "p.His812His",
"transcript": "ENST00000378168.8",
"protein_id": "ENSP00000367410.4",
"transcript_support_level": 5,
"aa_start": 812,
"aa_end": null,
"aa_length": 927,
"cds_start": 2436,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 2965,
"cdna_end": null,
"cdna_length": 8799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.2418C>T",
"hgvs_p": "p.His806His",
"transcript": "NM_003688.4",
"protein_id": "NP_003679.2",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 921,
"cds_start": 2418,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2984,
"cdna_end": null,
"cdna_length": 8818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.2418C>T",
"hgvs_p": "p.His806His",
"transcript": "ENST00000645566.1",
"protein_id": "ENSP00000494788.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 921,
"cds_start": 2418,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2445,
"cdna_end": null,
"cdna_length": 4002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.2415C>T",
"hgvs_p": "p.His805His",
"transcript": "NM_001410745.1",
"protein_id": "NP_001397674.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 920,
"cds_start": 2415,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 2981,
"cdna_end": null,
"cdna_length": 8815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.2415C>T",
"hgvs_p": "p.His805His",
"transcript": "ENST00000644219.1",
"protein_id": "ENSP00000495357.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 920,
"cds_start": 2415,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 2588,
"cdna_end": null,
"cdna_length": 6048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.2382C>T",
"hgvs_p": "p.His794His",
"transcript": "ENST00000378154.3",
"protein_id": "ENSP00000367396.2",
"transcript_support_level": 5,
"aa_start": 794,
"aa_end": null,
"aa_length": 909,
"cds_start": 2382,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 2823,
"cdna_end": null,
"cdna_length": 4037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.2379C>T",
"hgvs_p": "p.His793His",
"transcript": "ENST00000378158.6",
"protein_id": "ENSP00000367400.2",
"transcript_support_level": 5,
"aa_start": 793,
"aa_end": null,
"aa_length": 908,
"cds_start": 2379,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 2535,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.2367C>T",
"hgvs_p": "p.His789His",
"transcript": "ENST00000675354.1",
"protein_id": "ENSP00000502315.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 904,
"cds_start": 2367,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 2896,
"cdna_end": null,
"cdna_length": 8730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.2349C>T",
"hgvs_p": "p.His783His",
"transcript": "NM_001126054.3",
"protein_id": "NP_001119526.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 898,
"cds_start": 2349,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 2915,
"cdna_end": null,
"cdna_length": 8749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.2349C>T",
"hgvs_p": "p.His783His",
"transcript": "ENST00000646120.2",
"protein_id": "ENSP00000495291.2",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 898,
"cds_start": 2349,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 2368,
"cdna_end": null,
"cdna_length": 3239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.2346C>T",
"hgvs_p": "p.His782His",
"transcript": "NM_001126055.3",
"protein_id": "NP_001119527.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 897,
"cds_start": 2346,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 2912,
"cdna_end": null,
"cdna_length": 8746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.2346C>T",
"hgvs_p": "p.His782His",
"transcript": "ENST00000644347.1",
"protein_id": "ENSP00000494183.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 897,
"cds_start": 2346,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 2527,
"cdna_end": null,
"cdna_length": 8361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.1755C>T",
"hgvs_p": "p.His585His",
"transcript": "ENST00000646087.2",
"protein_id": "ENSP00000495510.2",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 700,
"cds_start": 1755,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1889,
"cdna_end": null,
"cdna_length": 3392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.204C>T",
"hgvs_p": "p.His68His",
"transcript": "ENST00000643733.1",
"protein_id": "ENSP00000496319.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 192,
"cds_start": 204,
"cds_end": null,
"cds_length": 579,
"cdna_start": 205,
"cdna_end": null,
"cdna_length": 667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.2433C>T",
"hgvs_p": "p.His811His",
"transcript": "XM_011543993.3",
"protein_id": "XP_011542295.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 926,
"cds_start": 2433,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 2479,
"cdna_end": null,
"cdna_length": 8313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.2397C>T",
"hgvs_p": "p.His799His",
"transcript": "XM_011543994.3",
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},
{
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"protein_coding": true,
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"consequences": [
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],
"exon_rank": 23,
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"hgvs_p": "p.His793His",
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},
{
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"transcript": "XM_011543995.3",
"protein_id": "XP_011542297.1",
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"aa_end": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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"gene_symbol": "CASK",
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"hgvs_c": "c.2328C>T",
"hgvs_p": "p.His776His",
"transcript": "XM_011543996.3",
"protein_id": "XP_011542298.1",
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"feature": null
},
{
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"protein_coding": true,
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"consequences": [
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],
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"exon_count": 24,
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"gene_symbol": "CASK",
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"hgvs_c": "c.2310C>T",
"hgvs_p": "p.His770His",
"transcript": "XM_006724566.4",
"protein_id": "XP_006724629.1",
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"aa_end": null,
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"cdna_start": 2356,
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"cdna_length": 8190,
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"feature": null
},
{
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"consequences": [
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"gene_symbol": "CASK",
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"hgvs_c": "c.1860C>T",
"hgvs_p": "p.His620His",
"transcript": "XM_011543997.4",
"protein_id": "XP_011542299.1",
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},
{
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"protein_coding": false,
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"consequences": [
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],
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"gene_symbol": "CASK",
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"hgvs_c": "n.1212C>T",
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"transcript": "ENST00000642499.1",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
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"exon_count": 13,
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"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "n.2664C>T",
"hgvs_p": null,
"transcript": "ENST00000645937.2",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_length": 4216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"dbsnp": "rs371990384",
"frequency_reference_population": 0.00027800348,
"hom_count_reference_population": 106,
"allele_count_reference_population": 336,
"gnomad_exomes_af": 0.000295462,
"gnomad_genomes_af": 0.000107112,
"gnomad_exomes_ac": 324,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.699999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.135,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000378163.7",
"gene_symbol": "CASK",
"hgnc_id": 1497,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.2433C>T",
"hgvs_p": "p.His811His"
}
],
"clinvar_disease": " CASK-related, X-linked,Intellectual disability,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "not specified|Intellectual disability, CASK-related, X-linked|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}