← 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: 9-35061611-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=35061611&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 35061611,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_007126.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Asn387Ser",
"transcript": "NM_007126.5",
"protein_id": "NP_009057.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 806,
"cds_start": 1160,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358901.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007126.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Asn387Ser",
"transcript": "ENST00000358901.11",
"protein_id": "ENSP00000351777.6",
"transcript_support_level": 1,
"aa_start": 387,
"aa_end": null,
"aa_length": 806,
"cds_start": 1160,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007126.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358901.11"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Asn387Ser",
"transcript": "ENST00000969527.1",
"protein_id": "ENSP00000639586.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 837,
"cds_start": 1160,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969527.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.1157A>G",
"hgvs_p": "p.Asn386Ser",
"transcript": "ENST00000940607.1",
"protein_id": "ENSP00000610666.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 805,
"cds_start": 1157,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940607.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Asn387Ser",
"transcript": "ENST00000969526.1",
"protein_id": "ENSP00000639585.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 805,
"cds_start": 1160,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969526.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.1154A>G",
"hgvs_p": "p.Asn385Ser",
"transcript": "ENST00000677257.1",
"protein_id": "ENSP00000504354.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 804,
"cds_start": 1154,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677257.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.1154A>G",
"hgvs_p": "p.Asn385Ser",
"transcript": "ENST00000969525.1",
"protein_id": "ENSP00000639584.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 804,
"cds_start": 1154,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969525.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.1139A>G",
"hgvs_p": "p.Asn380Ser",
"transcript": "ENST00000969528.1",
"protein_id": "ENSP00000639587.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 799,
"cds_start": 1139,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969528.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.1115A>G",
"hgvs_p": "p.Asn372Ser",
"transcript": "ENST00000969529.1",
"protein_id": "ENSP00000639588.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 791,
"cds_start": 1115,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969529.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Asn366Ser",
"transcript": "ENST00000940608.1",
"protein_id": "ENSP00000610667.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 785,
"cds_start": 1097,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940608.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.1070A>G",
"hgvs_p": "p.Asn357Ser",
"transcript": "ENST00000854255.1",
"protein_id": "ENSP00000524314.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 776,
"cds_start": 1070,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854255.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Asn387Ser",
"transcript": "ENST00000679902.1",
"protein_id": "ENSP00000506338.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 772,
"cds_start": 1160,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679902.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Asn387Ser",
"transcript": "ENST00000854254.1",
"protein_id": "ENSP00000524313.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 765,
"cds_start": 1160,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854254.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.1025A>G",
"hgvs_p": "p.Asn342Ser",
"transcript": "NM_001354927.2",
"protein_id": "NP_001341856.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 761,
"cds_start": 1025,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354927.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.1025A>G",
"hgvs_p": "p.Asn342Ser",
"transcript": "NM_001354928.2",
"protein_id": "NP_001341857.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 761,
"cds_start": 1025,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354928.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.1025A>G",
"hgvs_p": "p.Asn342Ser",
"transcript": "ENST00000417448.2",
"protein_id": "ENSP00000399456.2",
"transcript_support_level": 3,
"aa_start": 342,
"aa_end": null,
"aa_length": 761,
"cds_start": 1025,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417448.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.1025A>G",
"hgvs_p": "p.Asn342Ser",
"transcript": "ENST00000448530.6",
"protein_id": "ENSP00000392088.2",
"transcript_support_level": 5,
"aa_start": 342,
"aa_end": null,
"aa_length": 761,
"cds_start": 1025,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448530.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.1025A>G",
"hgvs_p": "p.Asn342Ser",
"transcript": "ENST00000678650.1",
"protein_id": "ENSP00000503426.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 761,
"cds_start": 1025,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678650.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.1025A>G",
"hgvs_p": "p.Asn342Ser",
"transcript": "ENST00000679862.1",
"protein_id": "ENSP00000504990.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 760,
"cds_start": 1025,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679862.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Asn387Ser",
"transcript": "ENST00000681335.1",
"protein_id": "ENSP00000505230.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 754,
"cds_start": 1160,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681335.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Asn387Ser",
"transcript": "ENST00000854256.1",
"protein_id": "ENSP00000524315.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 735,
"cds_start": 1160,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854256.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Asn387Ser",
"transcript": "ENST00000679647.1",
"protein_id": "ENSP00000506216.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 733,
"cds_start": 1160,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679647.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Asn170Ser",
"transcript": "ENST00000680834.1",
"protein_id": "ENSP00000506387.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 235,
"cds_start": 509,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680834.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.1298A>G",
"hgvs_p": null,
"transcript": "ENST00000480327.2",
"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": "retained_intron",
"feature": "ENST00000480327.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.1434A>G",
"hgvs_p": null,
"transcript": "ENST00000493886.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000493886.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.1506A>G",
"hgvs_p": null,
"transcript": "ENST00000676836.2",
"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": "retained_intron",
"feature": "ENST00000676836.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.*1131A>G",
"hgvs_p": null,
"transcript": "ENST00000678018.1",
"protein_id": "ENSP00000503811.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000678018.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.*172A>G",
"hgvs_p": null,
"transcript": "ENST00000678465.1",
"protein_id": "ENSP00000504259.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000678465.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.1160A>G",
"hgvs_p": null,
"transcript": "ENST00000679204.2",
"protein_id": "ENSP00000503131.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000679204.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.1430A>G",
"hgvs_p": null,
"transcript": "ENST00000679599.1",
"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": "retained_intron",
"feature": "ENST00000679599.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.1559A>G",
"hgvs_p": null,
"transcript": "ENST00000679800.1",
"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": "retained_intron",
"feature": "ENST00000679800.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.1160A>G",
"hgvs_p": null,
"transcript": "ENST00000680916.1",
"protein_id": "ENSP00000505769.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000680916.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.*99A>G",
"hgvs_p": null,
"transcript": "ENST00000681125.1",
"protein_id": "ENSP00000505052.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000681125.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.1432A>G",
"hgvs_p": null,
"transcript": "ENST00000681690.1",
"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": "retained_intron",
"feature": "ENST00000681690.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.*1131A>G",
"hgvs_p": null,
"transcript": "ENST00000678018.1",
"protein_id": "ENSP00000503811.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000678018.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.*172A>G",
"hgvs_p": null,
"transcript": "ENST00000678465.1",
"protein_id": "ENSP00000504259.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000678465.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.*99A>G",
"hgvs_p": null,
"transcript": "ENST00000681125.1",
"protein_id": "ENSP00000505052.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000681125.1"
}
],
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"dbsnp": "rs1410177803",
"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": 0.8159777522087097,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.788,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.4576,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.952,
"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_007126.5",
"gene_symbol": "VCP",
"hgnc_id": 12666,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Asn387Ser"
}
],
"clinvar_disease": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 6,Inborn genetic diseases,Inclusion body myopathy with Paget disease of bone and frontotemporal dementia,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Inborn genetic diseases|not provided|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6;Inclusion body myopathy with Paget disease of bone and frontotemporal dementia",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}