← 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: 3-53749431-GA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=53749431&ref=GA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 53749431,
"ref": "GA",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000350061.11",
"consequences": [
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.3543delA",
"hgvs_p": "p.Glu1182fs",
"transcript": "NM_000720.4",
"protein_id": "NP_000711.1",
"transcript_support_level": null,
"aa_start": 1181,
"aa_end": null,
"aa_length": 2181,
"cds_start": 3543,
"cds_end": null,
"cds_length": 6546,
"cdna_start": 4099,
"cdna_end": null,
"cdna_length": 9429,
"mane_select": null,
"mane_plus": "ENST00000288139.11",
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.3543delA",
"hgvs_p": "p.Glu1182fs",
"transcript": "ENST00000288139.11",
"protein_id": "ENSP00000288139.3",
"transcript_support_level": 1,
"aa_start": 1181,
"aa_end": null,
"aa_length": 2181,
"cds_start": 3543,
"cds_end": null,
"cds_length": 6546,
"cdna_start": 4099,
"cdna_end": null,
"cdna_length": 9429,
"mane_select": null,
"mane_plus": "NM_000720.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.3483delA",
"hgvs_p": "p.Glu1162fs",
"transcript": "NM_001128840.3",
"protein_id": "NP_001122312.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 2161,
"cds_start": 3483,
"cds_end": null,
"cds_length": 6486,
"cdna_start": 4039,
"cdna_end": null,
"cdna_length": 9369,
"mane_select": "ENST00000350061.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.3483delA",
"hgvs_p": "p.Glu1162fs",
"transcript": "ENST00000350061.11",
"protein_id": "ENSP00000288133.5",
"transcript_support_level": 1,
"aa_start": 1161,
"aa_end": null,
"aa_length": 2161,
"cds_start": 3483,
"cds_end": null,
"cds_length": 6486,
"cdna_start": 4039,
"cdna_end": null,
"cdna_length": 9369,
"mane_select": "NM_001128840.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.3543delA",
"hgvs_p": "p.Glu1182fs",
"transcript": "ENST00000481478.2",
"protein_id": "ENSP00000418014.2",
"transcript_support_level": 1,
"aa_start": 1181,
"aa_end": null,
"aa_length": 2181,
"cds_start": 3543,
"cds_end": null,
"cds_length": 6546,
"cdna_start": 4099,
"cdna_end": null,
"cdna_length": 7204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.3483delA",
"hgvs_p": "p.Glu1162fs",
"transcript": "ENST00000422281.7",
"protein_id": "ENSP00000409174.2",
"transcript_support_level": 1,
"aa_start": 1161,
"aa_end": null,
"aa_length": 2137,
"cds_start": 3483,
"cds_end": null,
"cds_length": 6414,
"cdna_start": 3483,
"cdna_end": null,
"cdna_length": 7211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.3555delA",
"hgvs_p": "p.Glu1186fs",
"transcript": "ENST00000637424.1",
"protein_id": "ENSP00000489769.1",
"transcript_support_level": 5,
"aa_start": 1185,
"aa_end": null,
"aa_length": 2170,
"cds_start": 3555,
"cds_end": null,
"cds_length": 6513,
"cdna_start": 3898,
"cdna_end": null,
"cdna_length": 6856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.3483delA",
"hgvs_p": "p.Glu1162fs",
"transcript": "ENST00000636570.1",
"protein_id": "ENSP00000490183.1",
"transcript_support_level": 5,
"aa_start": 1161,
"aa_end": null,
"aa_length": 2146,
"cds_start": 3483,
"cds_end": null,
"cds_length": 6441,
"cdna_start": 3483,
"cdna_end": null,
"cdna_length": 6441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.3483delA",
"hgvs_p": "p.Glu1162fs",
"transcript": "NM_001128839.3",
"protein_id": "NP_001122311.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 2137,
"cds_start": 3483,
"cds_end": null,
"cds_length": 6414,
"cdna_start": 4039,
"cdna_end": null,
"cdna_length": 9297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.3483delA",
"hgvs_p": "p.Glu1162fs",
"transcript": "ENST00000636938.1",
"protein_id": "ENSP00000490039.1",
"transcript_support_level": 5,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1647,
"cds_start": 3483,
"cds_end": null,
"cds_length": 4944,
"cdna_start": 3976,
"cdna_end": null,
"cdna_length": 6868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.3516delA",
"hgvs_p": "p.Glu1173fs",
"transcript": "ENST00000640483.1",
"protein_id": "ENSP00000491921.1",
"transcript_support_level": 5,
"aa_start": 1172,
"aa_end": null,
"aa_length": 1643,
"cds_start": 3516,
"cds_end": null,
"cds_length": 4932,
"cdna_start": 3516,
"cdna_end": null,
"cdna_length": 5673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.3543delA",
"hgvs_p": "p.Glu1182fs",
"transcript": "ENST00000636627.2",
"protein_id": "ENSP00000490889.2",
"transcript_support_level": 5,
"aa_start": 1181,
"aa_end": null,
"aa_length": 1625,
"cds_start": 3543,
"cds_end": null,
"cds_length": 4878,
"cdna_start": 4099,
"cdna_end": null,
"cdna_length": 5665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.669delA",
"hgvs_p": "p.Glu224fs",
"transcript": "ENST00000645528.2",
"protein_id": "ENSP00000494413.2",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 709,
"cds_start": 669,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 671,
"cdna_end": null,
"cdna_length": 3193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.57delA",
"hgvs_p": "p.Glu20fs",
"transcript": "ENST00000638120.1",
"protein_id": "ENSP00000489790.1",
"transcript_support_level": 2,
"aa_start": 19,
"aa_end": null,
"aa_length": 490,
"cds_start": 57,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 236,
"cdna_end": null,
"cdna_length": 1830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.363delA",
"hgvs_p": "p.Glu122fs",
"transcript": "ENST00000636723.1",
"protein_id": "ENSP00000490908.1",
"transcript_support_level": 5,
"aa_start": 121,
"aa_end": null,
"aa_length": 282,
"cds_start": 363,
"cds_end": null,
"cds_length": 849,
"cdna_start": 364,
"cdna_end": null,
"cdna_length": 850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.63delA",
"hgvs_p": "p.Glu22fs",
"transcript": "ENST00000638129.1",
"protein_id": "ENSP00000490523.1",
"transcript_support_level": 5,
"aa_start": 21,
"aa_end": null,
"aa_length": 222,
"cds_start": 63,
"cds_end": null,
"cds_length": 669,
"cdna_start": 63,
"cdna_end": null,
"cdna_length": 669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.3654delA",
"hgvs_p": "p.Glu1219fs",
"transcript": "XM_011534094.3",
"protein_id": "XP_011532396.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 2246,
"cds_start": 3654,
"cds_end": null,
"cds_length": 6741,
"cdna_start": 3669,
"cdna_end": null,
"cdna_length": 9083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.3654delA",
"hgvs_p": "p.Glu1219fs",
"transcript": "XM_017007137.2",
"protein_id": "XP_016862626.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 2246,
"cds_start": 3654,
"cds_end": null,
"cds_length": 6741,
"cdna_start": 3669,
"cdna_end": null,
"cdna_length": 9083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.3651delA",
"hgvs_p": "p.Glu1218fs",
"transcript": "XM_017007138.2",
"protein_id": "XP_016862627.1",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 2245,
"cds_start": 3651,
"cds_end": null,
"cds_length": 6738,
"cdna_start": 3666,
"cdna_end": null,
"cdna_length": 9080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.3654delA",
"hgvs_p": "p.Glu1219fs",
"transcript": "XM_017007139.2",
"protein_id": "XP_016862628.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 2237,
"cds_start": 3654,
"cds_end": null,
"cds_length": 6714,
"cdna_start": 3669,
"cdna_end": null,
"cdna_length": 9056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.3594delA",
"hgvs_p": "p.Glu1199fs",
"transcript": "XM_017007140.2",
"protein_id": "XP_016862629.1",
"transcript_support_level": null,
"aa_start": 1198,
"aa_end": null,
"aa_length": 2226,
"cds_start": 3594,
"cds_end": null,
"cds_length": 6681,
"cdna_start": 3609,
"cdna_end": null,
"cdna_length": 9023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.3594delA",
"hgvs_p": "p.Glu1199fs",
"transcript": "XM_017007141.2",
"protein_id": "XP_016862630.1",
"transcript_support_level": null,
"aa_start": 1198,
"aa_end": null,
"aa_length": 2226,
"cds_start": 3594,
"cds_end": null,
"cds_length": 6681,
"cdna_start": 3609,
"cdna_end": null,
"cdna_length": 9023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.3654delA",
"hgvs_p": "p.Glu1219fs",
"transcript": "XM_047448871.1",
"protein_id": "XP_047304827.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 2222,
"cds_start": 3654,
"cds_end": null,
"cds_length": 6669,
"cdna_start": 3669,
"cdna_end": null,
"cdna_length": 9011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.3654delA",
"hgvs_p": "p.Glu1219fs",
"transcript": "XM_017007142.2",
"protein_id": "XP_016862631.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 2218,
"cds_start": 3654,
"cds_end": null,
"cds_length": 6657,
"cdna_start": 3669,
"cdna_end": null,
"cdna_length": 8999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.3654delA",
"hgvs_p": "p.Glu1219fs",
"transcript": "XM_017007143.2",
"protein_id": "XP_016862632.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 2218,
"cds_start": 3654,
"cds_end": null,
"cds_length": 6657,
"cdna_start": 3669,
"cdna_end": null,
"cdna_length": 8999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.3654delA",
"hgvs_p": "p.Glu1219fs",
"transcript": "XM_017007144.2",
"protein_id": "XP_016862633.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 2218,
"cds_start": 3654,
"cds_end": null,
"cds_length": 6657,
"cdna_start": 3669,
"cdna_end": null,
"cdna_length": 8999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.3594delA",
"hgvs_p": "p.Glu1199fs",
"transcript": "XM_011534100.3",
"protein_id": "XP_011532402.1",
"transcript_support_level": null,
"aa_start": 1198,
"aa_end": null,
"aa_length": 2211,
"cds_start": 3594,
"cds_end": null,
"cds_length": 6636,
"cdna_start": 3609,
"cdna_end": null,
"cdna_length": 8978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.3654delA",
"hgvs_p": "p.Glu1219fs",
"transcript": "XM_017007145.2",
"protein_id": "XP_016862634.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 2203,
"cds_start": 3654,
"cds_end": null,
"cds_length": 6612,
"cdna_start": 3669,
"cdna_end": null,
"cdna_length": 8954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.3654delA",
"hgvs_p": "p.Glu1219fs",
"transcript": "XM_047448872.1",
"protein_id": "XP_047304828.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 2194,
"cds_start": 3654,
"cds_end": null,
"cds_length": 6585,
"cdna_start": 3669,
"cdna_end": null,
"cdna_length": 8927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.3594delA",
"hgvs_p": "p.Glu1199fs",
"transcript": "XM_011534096.3",
"protein_id": "XP_011532398.1",
"transcript_support_level": null,
"aa_start": 1198,
"aa_end": null,
"aa_length": 2183,
"cds_start": 3594,
"cds_end": null,
"cds_length": 6552,
"cdna_start": 3609,
"cdna_end": null,
"cdna_length": 8894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.3483delA",
"hgvs_p": "p.Glu1162fs",
"transcript": "XM_005265448.4",
"protein_id": "XP_005265505.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 2146,
"cds_start": 3483,
"cds_end": null,
"cds_length": 6441,
"cdna_start": 4039,
"cdna_end": null,
"cdna_length": 9324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.3117delA",
"hgvs_p": "p.Glu1040fs",
"transcript": "XM_011534097.3",
"protein_id": "XP_011532399.1",
"transcript_support_level": null,
"aa_start": 1039,
"aa_end": null,
"aa_length": 2067,
"cds_start": 3117,
"cds_end": null,
"cds_length": 6204,
"cdna_start": 4136,
"cdna_end": null,
"cdna_length": 9550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.2742delA",
"hgvs_p": "p.Glu915fs",
"transcript": "XM_011534099.3",
"protein_id": "XP_011532401.1",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 1942,
"cds_start": 2742,
"cds_end": null,
"cds_length": 5829,
"cdna_start": 3121,
"cdna_end": null,
"cdna_length": 8535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.3594delA",
"hgvs_p": "p.Glu1199fs",
"transcript": "XM_047448873.1",
"protein_id": "XP_047304829.1",
"transcript_support_level": null,
"aa_start": 1198,
"aa_end": null,
"aa_length": 1656,
"cds_start": 3594,
"cds_end": null,
"cds_length": 4971,
"cdna_start": 3609,
"cdna_end": null,
"cdna_length": 5604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.3483delA",
"hgvs_p": "p.Glu1162fs",
"transcript": "XM_047448874.1",
"protein_id": "XP_047304830.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1632,
"cds_start": 3483,
"cds_end": null,
"cds_length": 4899,
"cdna_start": 4039,
"cdna_end": null,
"cdna_length": 12237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"dbsnp": "rs193920795",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.325,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.06,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "ENST00000350061.11",
"gene_symbol": "CACNA1D",
"hgnc_id": 1391,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.3483delA",
"hgvs_p": "p.Glu1162fs"
}
],
"clinvar_disease": "Prostate cancer",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}