← 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: 17-80182790-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=80182790&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 80182790,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000648509.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Gly117Ser",
"transcript": "NM_001366385.1",
"protein_id": "NP_001353314.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 1004,
"cds_start": 349,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 4717,
"mane_select": "ENST00000648509.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Gly117Ser",
"transcript": "ENST00000648509.2",
"protein_id": "ENSP00000498071.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 1004,
"cds_start": 349,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 4717,
"mane_select": "NM_001366385.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Gly117Ser",
"transcript": "ENST00000344227.6",
"protein_id": "ENSP00000344549.2",
"transcript_support_level": 1,
"aa_start": 117,
"aa_end": null,
"aa_length": 1004,
"cds_start": 349,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 4147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Gly117Ser",
"transcript": "ENST00000570421.5",
"protein_id": "ENSP00000461806.1",
"transcript_support_level": 1,
"aa_start": 117,
"aa_end": null,
"aa_length": 740,
"cds_start": 349,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 2607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Gly117Ser",
"transcript": "ENST00000651672.1",
"protein_id": "ENSP00000499145.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 1013,
"cds_start": 349,
"cds_end": null,
"cds_length": 3042,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 4475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Gly117Ser",
"transcript": "NM_024110.4",
"protein_id": "NP_077015.2",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 1004,
"cds_start": 349,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 4169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Gly117Ser",
"transcript": "ENST00000571427.2",
"protein_id": "ENSP00000516501.1",
"transcript_support_level": 5,
"aa_start": 117,
"aa_end": null,
"aa_length": 1004,
"cds_start": 349,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 4732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Gly117Ser",
"transcript": "ENST00000573882.5",
"protein_id": "ENSP00000458715.1",
"transcript_support_level": 5,
"aa_start": 117,
"aa_end": null,
"aa_length": 1004,
"cds_start": 349,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 885,
"cdna_end": null,
"cdna_length": 4537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Gly117Ser",
"transcript": "NM_001257970.1",
"protein_id": "NP_001244899.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 740,
"cds_start": 349,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 2598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Gly117Ser",
"transcript": "XM_011525213.2",
"protein_id": "XP_011523515.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 1004,
"cds_start": 349,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 4394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Gly117Ser",
"transcript": "XM_011525216.2",
"protein_id": "XP_011523518.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 1004,
"cds_start": 349,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 544,
"cdna_end": null,
"cdna_length": 4196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Gly117Ser",
"transcript": "XM_011525218.2",
"protein_id": "XP_011523520.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 1004,
"cds_start": 349,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 579,
"cdna_end": null,
"cdna_length": 4231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Gly117Ser",
"transcript": "XM_047436713.1",
"protein_id": "XP_047292669.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 1004,
"cds_start": 349,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 822,
"cdna_end": null,
"cdna_length": 4474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Gly117Ser",
"transcript": "XM_047436714.1",
"protein_id": "XP_047292670.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 1004,
"cds_start": 349,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 804,
"cdna_end": null,
"cdna_length": 4456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Gly117Ser",
"transcript": "XM_047436715.1",
"protein_id": "XP_047292671.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 1004,
"cds_start": 349,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 4492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Gly117Ser",
"transcript": "XM_047436716.1",
"protein_id": "XP_047292672.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 1004,
"cds_start": 349,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 4376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Gly117Ser",
"transcript": "XM_047436717.1",
"protein_id": "XP_047292673.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 1004,
"cds_start": 349,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 4672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Gly117Ser",
"transcript": "XM_047436718.1",
"protein_id": "XP_047292674.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 1003,
"cds_start": 349,
"cds_end": null,
"cds_length": 3012,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 4166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Gly117Ser",
"transcript": "XM_047436719.1",
"protein_id": "XP_047292675.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 936,
"cds_start": 349,
"cds_end": null,
"cds_length": 2811,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 5328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Gly117Ser",
"transcript": "XM_047436720.1",
"protein_id": "XP_047292676.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 854,
"cds_start": 349,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 3038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Gly117Ser",
"transcript": "XM_047436721.1",
"protein_id": "XP_047292677.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 740,
"cds_start": 349,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 2796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Gly117Ser",
"transcript": "XM_047436722.1",
"protein_id": "XP_047292678.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 678,
"cds_start": 349,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 2669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Gly117Ser",
"transcript": "XM_047436723.1",
"protein_id": "XP_047292679.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 544,
"cds_start": 349,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 2088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "n.349G>A",
"hgvs_p": null,
"transcript": "ENST00000575500.5",
"protein_id": "ENSP00000460883.1",
"transcript_support_level": 2,
"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": 3766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "n.591G>A",
"hgvs_p": null,
"transcript": "ENST00000650806.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "n.349G>A",
"hgvs_p": null,
"transcript": "ENST00000650867.1",
"protein_id": "ENSP00000498570.1",
"transcript_support_level": null,
"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": 4082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "n.349G>A",
"hgvs_p": null,
"transcript": "ENST00000651068.1",
"protein_id": "ENSP00000498274.1",
"transcript_support_level": null,
"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": 3838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "n.349G>A",
"hgvs_p": null,
"transcript": "ENST00000651388.1",
"protein_id": "ENSP00000498956.1",
"transcript_support_level": null,
"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": 2429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "n.785G>A",
"hgvs_p": null,
"transcript": "ENST00000652599.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "n.349G>A",
"hgvs_p": null,
"transcript": "ENST00000703566.1",
"protein_id": "ENSP00000515382.1",
"transcript_support_level": null,
"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": 4305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "n.349G>A",
"hgvs_p": null,
"transcript": "ENST00000703567.1",
"protein_id": "ENSP00000515383.1",
"transcript_support_level": null,
"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": 4287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "n.349G>A",
"hgvs_p": null,
"transcript": "ENST00000703568.1",
"protein_id": "ENSP00000515384.1",
"transcript_support_level": null,
"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": 3766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "n.550G>A",
"hgvs_p": null,
"transcript": "ENST00000703569.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "n.544G>A",
"hgvs_p": null,
"transcript": "NR_047566.2",
"protein_id": null,
"transcript_support_level": null,
"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": 4138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"dbsnp": "rs281875215",
"frequency_reference_population": 0.000006840647,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000684065,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23171231150627136,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.9919999837875366,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.141,
"revel_prediction": "Benign",
"alphamissense_score": 0.2357,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.882,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.75,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.999947437384202,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PP3_Strong,PP5_Moderate,BS2_Supporting",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 1,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PP3_Strong",
"PP5_Moderate",
"BS2_Supporting"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000648509.2",
"gene_symbol": "CARD14",
"hgnc_id": 16446,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Gly117Ser"
}
],
"clinvar_disease": "Papulosquamous eruptions,Pityriasis rubra pilaris,Psoriasis 2,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1 O:1",
"phenotype_combined": "Psoriasis 2|not provided|Psoriasis 2;Pityriasis rubra pilaris|Papulosquamous eruptions",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}