← 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: 9-35057477-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=35057477&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 35057477,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000358901.11",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.2214A>G",
"hgvs_p": "p.Glu738Glu",
"transcript": "NM_007126.5",
"protein_id": "NP_009057.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 806,
"cds_start": 2214,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 2486,
"cdna_end": null,
"cdna_length": 3746,
"mane_select": "ENST00000358901.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.2214A>G",
"hgvs_p": "p.Glu738Glu",
"transcript": "ENST00000358901.11",
"protein_id": "ENSP00000351777.6",
"transcript_support_level": 1,
"aa_start": 738,
"aa_end": null,
"aa_length": 806,
"cds_start": 2214,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 2486,
"cdna_end": null,
"cdna_length": 3746,
"mane_select": "NM_007126.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 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.742A>G",
"hgvs_p": null,
"transcript": "ENST00000479300.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.2208A>G",
"hgvs_p": "p.Glu736Glu",
"transcript": "ENST00000677257.1",
"protein_id": "ENSP00000504354.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 804,
"cds_start": 2208,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 2456,
"cdna_end": null,
"cdna_length": 4404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.2214A>G",
"hgvs_p": "p.Glu738Glu",
"transcript": "ENST00000679902.1",
"protein_id": "ENSP00000506338.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 772,
"cds_start": 2214,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 2484,
"cdna_end": null,
"cdna_length": 6033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.2079A>G",
"hgvs_p": "p.Glu693Glu",
"transcript": "NM_001354927.2",
"protein_id": "NP_001341856.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 761,
"cds_start": 2079,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 2546,
"cdna_end": null,
"cdna_length": 3806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.2079A>G",
"hgvs_p": "p.Glu693Glu",
"transcript": "NM_001354928.2",
"protein_id": "NP_001341857.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 761,
"cds_start": 2079,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 3066,
"cdna_end": null,
"cdna_length": 4326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.2079A>G",
"hgvs_p": "p.Glu693Glu",
"transcript": "ENST00000417448.2",
"protein_id": "ENSP00000399456.2",
"transcript_support_level": 3,
"aa_start": 693,
"aa_end": null,
"aa_length": 761,
"cds_start": 2079,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 2646,
"cdna_end": null,
"cdna_length": 3382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.2079A>G",
"hgvs_p": "p.Glu693Glu",
"transcript": "ENST00000448530.6",
"protein_id": "ENSP00000392088.2",
"transcript_support_level": 5,
"aa_start": 693,
"aa_end": null,
"aa_length": 761,
"cds_start": 2079,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 2589,
"cdna_end": null,
"cdna_length": 3849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.2079A>G",
"hgvs_p": "p.Glu693Glu",
"transcript": "ENST00000678650.1",
"protein_id": "ENSP00000503426.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 761,
"cds_start": 2079,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 2414,
"cdna_end": null,
"cdna_length": 4362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.2076A>G",
"hgvs_p": "p.Glu692Glu",
"transcript": "ENST00000679862.1",
"protein_id": "ENSP00000504990.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 760,
"cds_start": 2076,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 2469,
"cdna_end": null,
"cdna_length": 3159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.2058A>G",
"hgvs_p": "p.Glu686Glu",
"transcript": "ENST00000681335.1",
"protein_id": "ENSP00000505230.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 754,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 2330,
"cdna_end": null,
"cdna_length": 3077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.54A>G",
"hgvs_p": "p.Glu18Glu",
"transcript": "ENST00000681537.1",
"protein_id": "ENSP00000505847.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 76,
"cds_start": 54,
"cds_end": null,
"cds_length": 231,
"cdna_start": 54,
"cdna_end": null,
"cdna_length": 1303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.357A>G",
"hgvs_p": null,
"transcript": "ENST00000466100.1",
"protein_id": null,
"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": 508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.2488A>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.2957A>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.*2185A>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.*1226A>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.*855A>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.4803A>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.2613A>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.*179A>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.4019A>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.*2185A>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.*1226A>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.*855A>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.*179A>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.2084-382A>G",
"hgvs_p": null,
"transcript": "ENST00000679647.1",
"protein_id": "ENSP00000506216.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 733,
"cds_start": -4,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"dbsnp": "rs374391034",
"frequency_reference_population": 0.001079278,
"hom_count_reference_population": 25,
"allele_count_reference_population": 1742,
"gnomad_exomes_af": 0.00110765,
"gnomad_genomes_af": 0.000807171,
"gnomad_exomes_ac": 1619,
"gnomad_genomes_ac": 123,
"gnomad_exomes_homalt": 23,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6100000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.266,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000358901.11",
"gene_symbol": "VCP",
"hgnc_id": 12666,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2214A>G",
"hgvs_p": "p.Glu738Glu"
}
],
"clinvar_disease": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 6,Inborn genetic diseases,Inclusion body myopathy with Paget disease of bone and frontotemporal dementia,Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:5",
"phenotype_combined": "not specified|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1|not provided|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia;Frontotemporal dementia and/or amyotrophic lateral sclerosis 6|Inborn genetic diseases",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}