← 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: 7-122345638-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=122345638&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 122345638,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001363389.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3548G>A",
"hgvs_p": "p.Arg1183Gln",
"transcript": "NM_017954.11",
"protein_id": "NP_060424.9",
"transcript_support_level": null,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1296,
"cds_start": 3548,
"cds_end": null,
"cds_length": 3891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000449022.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017954.11"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3548G>A",
"hgvs_p": "p.Arg1183Gln",
"transcript": "ENST00000449022.7",
"protein_id": "ENSP00000398481.2",
"transcript_support_level": 5,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1296,
"cds_start": 3548,
"cds_end": null,
"cds_length": 3891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017954.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449022.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3425G>A",
"hgvs_p": "p.Arg1142Gln",
"transcript": "ENST00000412584.6",
"protein_id": "ENSP00000400401.2",
"transcript_support_level": 1,
"aa_start": 1142,
"aa_end": null,
"aa_length": 1255,
"cds_start": 3425,
"cds_end": null,
"cds_length": 3768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412584.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3584G>A",
"hgvs_p": "p.Arg1195Gln",
"transcript": "NM_001363389.2",
"protein_id": "NP_001350318.1",
"transcript_support_level": null,
"aa_start": 1195,
"aa_end": null,
"aa_length": 1308,
"cds_start": 3584,
"cds_end": null,
"cds_length": 3927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363389.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3569G>A",
"hgvs_p": "p.Arg1190Gln",
"transcript": "NM_001363390.2",
"protein_id": "NP_001350319.1",
"transcript_support_level": null,
"aa_start": 1190,
"aa_end": null,
"aa_length": 1303,
"cds_start": 3569,
"cds_end": null,
"cds_length": 3912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363390.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3566G>A",
"hgvs_p": "p.Arg1189Gln",
"transcript": "ENST00000951082.1",
"protein_id": "ENSP00000621141.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1302,
"cds_start": 3566,
"cds_end": null,
"cds_length": 3909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951082.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3560G>A",
"hgvs_p": "p.Arg1187Gln",
"transcript": "NM_001167940.2",
"protein_id": "NP_001161412.1",
"transcript_support_level": null,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1300,
"cds_start": 3560,
"cds_end": null,
"cds_length": 3903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167940.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3560G>A",
"hgvs_p": "p.Arg1187Gln",
"transcript": "NM_001363391.2",
"protein_id": "NP_001350320.1",
"transcript_support_level": null,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1300,
"cds_start": 3560,
"cds_end": null,
"cds_length": 3903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363391.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3545G>A",
"hgvs_p": "p.Arg1182Gln",
"transcript": "ENST00000951078.1",
"protein_id": "ENSP00000621137.1",
"transcript_support_level": null,
"aa_start": 1182,
"aa_end": null,
"aa_length": 1295,
"cds_start": 3545,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951078.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3530G>A",
"hgvs_p": "p.Arg1177Gln",
"transcript": "ENST00000870413.1",
"protein_id": "ENSP00000540472.1",
"transcript_support_level": null,
"aa_start": 1177,
"aa_end": null,
"aa_length": 1290,
"cds_start": 3530,
"cds_end": null,
"cds_length": 3873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870413.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3512G>A",
"hgvs_p": "p.Arg1171Gln",
"transcript": "ENST00000951090.1",
"protein_id": "ENSP00000621149.1",
"transcript_support_level": null,
"aa_start": 1171,
"aa_end": null,
"aa_length": 1284,
"cds_start": 3512,
"cds_end": null,
"cds_length": 3855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951090.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3497G>A",
"hgvs_p": "p.Arg1166Gln",
"transcript": "ENST00000951089.1",
"protein_id": "ENSP00000621148.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1279,
"cds_start": 3497,
"cds_end": null,
"cds_length": 3840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951089.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3464G>A",
"hgvs_p": "p.Arg1155Gln",
"transcript": "NM_001363392.2",
"protein_id": "NP_001350321.1",
"transcript_support_level": null,
"aa_start": 1155,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3464,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363392.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3449G>A",
"hgvs_p": "p.Arg1150Gln",
"transcript": "NM_001363393.2",
"protein_id": "NP_001350322.1",
"transcript_support_level": null,
"aa_start": 1150,
"aa_end": null,
"aa_length": 1263,
"cds_start": 3449,
"cds_end": null,
"cds_length": 3792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363393.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3446G>A",
"hgvs_p": "p.Arg1149Gln",
"transcript": "ENST00000951079.1",
"protein_id": "ENSP00000621138.1",
"transcript_support_level": null,
"aa_start": 1149,
"aa_end": null,
"aa_length": 1262,
"cds_start": 3446,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951079.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3440G>A",
"hgvs_p": "p.Arg1147Gln",
"transcript": "NM_001363394.2",
"protein_id": "NP_001350323.1",
"transcript_support_level": null,
"aa_start": 1147,
"aa_end": null,
"aa_length": 1260,
"cds_start": 3440,
"cds_end": null,
"cds_length": 3783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363394.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3431G>A",
"hgvs_p": "p.Arg1144Gln",
"transcript": "NM_001363395.2",
"protein_id": "NP_001350324.1",
"transcript_support_level": null,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1257,
"cds_start": 3431,
"cds_end": null,
"cds_length": 3774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363395.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3431G>A",
"hgvs_p": "p.Arg1144Gln",
"transcript": "ENST00000870411.1",
"protein_id": "ENSP00000540470.1",
"transcript_support_level": null,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1257,
"cds_start": 3431,
"cds_end": null,
"cds_length": 3774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870411.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3428G>A",
"hgvs_p": "p.Arg1143Gln",
"transcript": "NM_001363396.2",
"protein_id": "NP_001350325.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1256,
"cds_start": 3428,
"cds_end": null,
"cds_length": 3771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363396.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3425G>A",
"hgvs_p": "p.Arg1142Gln",
"transcript": "NM_001009571.4",
"protein_id": "NP_001009571.2",
"transcript_support_level": null,
"aa_start": 1142,
"aa_end": null,
"aa_length": 1255,
"cds_start": 3425,
"cds_end": null,
"cds_length": 3768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001009571.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3419G>A",
"hgvs_p": "p.Arg1140Gln",
"transcript": "NM_001363397.2",
"protein_id": "NP_001350326.1",
"transcript_support_level": null,
"aa_start": 1140,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3419,
"cds_end": null,
"cds_length": 3762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363397.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3410G>A",
"hgvs_p": "p.Arg1137Gln",
"transcript": "NM_001363398.2",
"protein_id": "NP_001350327.1",
"transcript_support_level": null,
"aa_start": 1137,
"aa_end": null,
"aa_length": 1250,
"cds_start": 3410,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363398.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3425G>A",
"hgvs_p": "p.Arg1142Gln",
"transcript": "ENST00000951085.1",
"protein_id": "ENSP00000621144.1",
"transcript_support_level": null,
"aa_start": 1142,
"aa_end": null,
"aa_length": 1246,
"cds_start": 3425,
"cds_end": null,
"cds_length": 3741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951085.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3392G>A",
"hgvs_p": "p.Arg1131Gln",
"transcript": "ENST00000951087.1",
"protein_id": "ENSP00000621146.1",
"transcript_support_level": null,
"aa_start": 1131,
"aa_end": null,
"aa_length": 1244,
"cds_start": 3392,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951087.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3389G>A",
"hgvs_p": "p.Arg1130Gln",
"transcript": "ENST00000951091.1",
"protein_id": "ENSP00000621150.1",
"transcript_support_level": null,
"aa_start": 1130,
"aa_end": null,
"aa_length": 1243,
"cds_start": 3389,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951091.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3377G>A",
"hgvs_p": "p.Arg1126Gln",
"transcript": "ENST00000870412.1",
"protein_id": "ENSP00000540471.1",
"transcript_support_level": null,
"aa_start": 1126,
"aa_end": null,
"aa_length": 1239,
"cds_start": 3377,
"cds_end": null,
"cds_length": 3720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870412.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3350G>A",
"hgvs_p": "p.Arg1117Gln",
"transcript": "ENST00000951080.1",
"protein_id": "ENSP00000621139.1",
"transcript_support_level": null,
"aa_start": 1117,
"aa_end": null,
"aa_length": 1230,
"cds_start": 3350,
"cds_end": null,
"cds_length": 3693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951080.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3344G>A",
"hgvs_p": "p.Arg1115Gln",
"transcript": "ENST00000951086.1",
"protein_id": "ENSP00000621145.1",
"transcript_support_level": null,
"aa_start": 1115,
"aa_end": null,
"aa_length": 1228,
"cds_start": 3344,
"cds_end": null,
"cds_length": 3687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951086.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3329G>A",
"hgvs_p": "p.Arg1110Gln",
"transcript": "ENST00000951093.1",
"protein_id": "ENSP00000621152.1",
"transcript_support_level": null,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1223,
"cds_start": 3329,
"cds_end": null,
"cds_length": 3672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951093.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3308G>A",
"hgvs_p": "p.Arg1103Gln",
"transcript": "ENST00000951081.1",
"protein_id": "ENSP00000621140.1",
"transcript_support_level": null,
"aa_start": 1103,
"aa_end": null,
"aa_length": 1216,
"cds_start": 3308,
"cds_end": null,
"cds_length": 3651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951081.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3308G>A",
"hgvs_p": "p.Arg1103Gln",
"transcript": "ENST00000951083.1",
"protein_id": "ENSP00000621142.1",
"transcript_support_level": null,
"aa_start": 1103,
"aa_end": null,
"aa_length": 1216,
"cds_start": 3308,
"cds_end": null,
"cds_length": 3651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951083.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3293G>A",
"hgvs_p": "p.Arg1098Gln",
"transcript": "ENST00000925367.1",
"protein_id": "ENSP00000595426.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1211,
"cds_start": 3293,
"cds_end": null,
"cds_length": 3636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925367.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3242G>A",
"hgvs_p": "p.Arg1081Gln",
"transcript": "ENST00000313070.11",
"protein_id": "ENSP00000325581.8",
"transcript_support_level": 5,
"aa_start": 1081,
"aa_end": null,
"aa_length": 1194,
"cds_start": 3242,
"cds_end": null,
"cds_length": 3585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313070.11"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3233G>A",
"hgvs_p": "p.Arg1078Gln",
"transcript": "ENST00000951092.1",
"protein_id": "ENSP00000621151.1",
"transcript_support_level": null,
"aa_start": 1078,
"aa_end": null,
"aa_length": 1191,
"cds_start": 3233,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951092.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3173G>A",
"hgvs_p": "p.Arg1058Gln",
"transcript": "ENST00000951088.1",
"protein_id": "ENSP00000621147.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1171,
"cds_start": 3173,
"cds_end": null,
"cds_length": 3516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951088.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3086G>A",
"hgvs_p": "p.Arg1029Gln",
"transcript": "NM_001363399.2",
"protein_id": "NP_001350328.1",
"transcript_support_level": null,
"aa_start": 1029,
"aa_end": null,
"aa_length": 1142,
"cds_start": 3086,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363399.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.2966G>A",
"hgvs_p": "p.Arg989Gln",
"transcript": "NM_001363400.2",
"protein_id": "NP_001350329.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1102,
"cds_start": 2966,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363400.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.2354G>A",
"hgvs_p": "p.Arg785Gln",
"transcript": "ENST00000397721.4",
"protein_id": "ENSP00000380833.4",
"transcript_support_level": 2,
"aa_start": 785,
"aa_end": null,
"aa_length": 898,
"cds_start": 2354,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397721.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.1127G>A",
"hgvs_p": "p.Arg376Gln",
"transcript": "ENST00000462699.5",
"protein_id": "ENSP00000419418.1",
"transcript_support_level": 5,
"aa_start": 376,
"aa_end": null,
"aa_length": 489,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000462699.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3575G>A",
"hgvs_p": "p.Arg1192Gln",
"transcript": "XM_005250696.6",
"protein_id": "XP_005250753.1",
"transcript_support_level": null,
"aa_start": 1192,
"aa_end": null,
"aa_length": 1305,
"cds_start": 3575,
"cds_end": null,
"cds_length": 3918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250696.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3575G>A",
"hgvs_p": "p.Arg1192Gln",
"transcript": "XM_005250697.6",
"protein_id": "XP_005250754.1",
"transcript_support_level": null,
"aa_start": 1192,
"aa_end": null,
"aa_length": 1305,
"cds_start": 3575,
"cds_end": null,
"cds_length": 3918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250697.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3563G>A",
"hgvs_p": "p.Arg1188Gln",
"transcript": "XM_005250699.6",
"protein_id": "XP_005250756.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1301,
"cds_start": 3563,
"cds_end": null,
"cds_length": 3906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250699.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3554G>A",
"hgvs_p": "p.Arg1185Gln",
"transcript": "XM_005250701.6",
"protein_id": "XP_005250758.1",
"transcript_support_level": null,
"aa_start": 1185,
"aa_end": null,
"aa_length": 1298,
"cds_start": 3554,
"cds_end": null,
"cds_length": 3897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250701.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3554G>A",
"hgvs_p": "p.Arg1185Gln",
"transcript": "XM_047421031.1",
"protein_id": "XP_047276987.1",
"transcript_support_level": null,
"aa_start": 1185,
"aa_end": null,
"aa_length": 1298,
"cds_start": 3554,
"cds_end": null,
"cds_length": 3897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421031.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3545G>A",
"hgvs_p": "p.Arg1182Gln",
"transcript": "XM_017012794.3",
"protein_id": "XP_016868283.1",
"transcript_support_level": null,
"aa_start": 1182,
"aa_end": null,
"aa_length": 1295,
"cds_start": 3545,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012794.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3539G>A",
"hgvs_p": "p.Arg1180Gln",
"transcript": "XM_005250702.6",
"protein_id": "XP_005250759.1",
"transcript_support_level": null,
"aa_start": 1180,
"aa_end": null,
"aa_length": 1293,
"cds_start": 3539,
"cds_end": null,
"cds_length": 3882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250702.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3530G>A",
"hgvs_p": "p.Arg1177Gln",
"transcript": "XM_047421032.1",
"protein_id": "XP_047276988.1",
"transcript_support_level": null,
"aa_start": 1177,
"aa_end": null,
"aa_length": 1290,
"cds_start": 3530,
"cds_end": null,
"cds_length": 3873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421032.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3455G>A",
"hgvs_p": "p.Arg1152Gln",
"transcript": "XM_005250704.6",
"protein_id": "XP_005250761.1",
"transcript_support_level": null,
"aa_start": 1152,
"aa_end": null,
"aa_length": 1265,
"cds_start": 3455,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250704.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3446G>A",
"hgvs_p": "p.Arg1149Gln",
"transcript": "XM_047421033.1",
"protein_id": "XP_047276989.1",
"transcript_support_level": null,
"aa_start": 1149,
"aa_end": null,
"aa_length": 1262,
"cds_start": 3446,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421033.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3440G>A",
"hgvs_p": "p.Arg1147Gln",
"transcript": "XM_005250706.6",
"protein_id": "XP_005250763.1",
"transcript_support_level": null,
"aa_start": 1147,
"aa_end": null,
"aa_length": 1260,
"cds_start": 3440,
"cds_end": null,
"cds_length": 3783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250706.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3434G>A",
"hgvs_p": "p.Arg1145Gln",
"transcript": "XM_005250707.6",
"protein_id": "XP_005250764.1",
"transcript_support_level": null,
"aa_start": 1145,
"aa_end": null,
"aa_length": 1258,
"cds_start": 3434,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250707.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3101G>A",
"hgvs_p": "p.Arg1034Gln",
"transcript": "XM_017012796.3",
"protein_id": "XP_016868285.1",
"transcript_support_level": null,
"aa_start": 1034,
"aa_end": null,
"aa_length": 1147,
"cds_start": 3101,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012796.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.2471G>A",
"hgvs_p": "p.Arg824Gln",
"transcript": "XM_047421034.1",
"protein_id": "XP_047276990.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 937,
"cds_start": 2471,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421034.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3381+15150G>A",
"hgvs_p": null,
"transcript": "ENST00000951084.1",
"protein_id": "ENSP00000621143.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1219,
"cds_start": null,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951084.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000240499",
"gene_hgnc_id": null,
"hgvs_c": "n.98-8691C>T",
"hgvs_p": null,
"transcript": "ENST00000482375.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000482375.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000240499",
"gene_hgnc_id": null,
"hgvs_c": "n.94-8691C>T",
"hgvs_p": null,
"transcript": "ENST00000591140.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000591140.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000240499",
"gene_hgnc_id": null,
"hgvs_c": "n.31-8691C>T",
"hgvs_p": null,
"transcript": "ENST00000593910.3",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000593910.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000240499",
"gene_hgnc_id": null,
"hgvs_c": "n.98-8691C>T",
"hgvs_p": null,
"transcript": "ENST00000602012.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000602012.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000240499",
"gene_hgnc_id": null,
"hgvs_c": "n.41-8691C>T",
"hgvs_p": null,
"transcript": "ENST00000602199.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000602199.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000240499",
"gene_hgnc_id": null,
"hgvs_c": "n.75-8691C>T",
"hgvs_p": null,
"transcript": "ENST00000625850.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000625850.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000240499",
"gene_hgnc_id": null,
"hgvs_c": "n.75-8691C>T",
"hgvs_p": null,
"transcript": "ENST00000626052.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000626052.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000240499",
"gene_hgnc_id": null,
"hgvs_c": "n.121+6642C>T",
"hgvs_p": null,
"transcript": "ENST00000626092.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000626092.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000240499",
"gene_hgnc_id": null,
"hgvs_c": "n.75-8691C>T",
"hgvs_p": null,
"transcript": "ENST00000626740.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000626740.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000240499",
"gene_hgnc_id": null,
"hgvs_c": "n.75-8691C>T",
"hgvs_p": null,
"transcript": "ENST00000627005.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000627005.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000240499",
"gene_hgnc_id": null,
"hgvs_c": "n.228-8691C>T",
"hgvs_p": null,
"transcript": "ENST00000628132.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000628132.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000240499",
"gene_hgnc_id": null,
"hgvs_c": "n.75-8621C>T",
"hgvs_p": null,
"transcript": "ENST00000628268.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000628268.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000240499",
"gene_hgnc_id": null,
"hgvs_c": "n.75-8691C>T",
"hgvs_p": null,
"transcript": "ENST00000630777.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000630777.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000240499",
"gene_hgnc_id": null,
"hgvs_c": "n.75-8691C>T",
"hgvs_p": null,
"transcript": "ENST00000630897.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000630897.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000240499",
"gene_hgnc_id": null,
"hgvs_c": "n.75-8621C>T",
"hgvs_p": null,
"transcript": "ENST00000631248.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000631248.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENSG00000293696",
"gene_hgnc_id": null,
"hgvs_c": "n.584-8691C>T",
"hgvs_p": null,
"transcript": "ENST00000718494.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000718494.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000293696",
"gene_hgnc_id": null,
"hgvs_c": "n.299-8691C>T",
"hgvs_p": null,
"transcript": "ENST00000718495.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000718495.1"
}
],
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"dbsnp": "rs754851028",
"frequency_reference_population": 0.000008679372,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000889798,
"gnomad_genomes_af": 0.00000657834,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7800635695457458,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.557,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9185,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001363389.2",
"gene_symbol": "CADPS2",
"hgnc_id": 16018,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3584G>A",
"hgvs_p": "p.Arg1195Gln"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000482375.5",
"gene_symbol": "ENSG00000240499",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.98-8691C>T",
"hgvs_p": null
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000718494.1",
"gene_symbol": "ENSG00000293696",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.584-8691C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}