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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: 9-35061696-G-GACAGTACACAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=35061696&ref=G&alt=GACAGTACACAA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 35061696,
"ref": "G",
"alt": "GACAGTACACAA",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000358901.11",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.1082-18_1082-8dupTTGTGTACTGT",
"hgvs_p": null,
"transcript": "NM_007126.5",
"protein_id": "NP_009057.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 806,
"cds_start": -4,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3746,
"mane_select": "ENST00000358901.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.1082-8_1082-7insTTGTGTACTGT",
"hgvs_p": null,
"transcript": "ENST00000358901.11",
"protein_id": "ENSP00000351777.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 806,
"cds_start": -4,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"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": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.1076-8_1076-7insTTGTGTACTGT",
"hgvs_p": null,
"transcript": "ENST00000677257.1",
"protein_id": "ENSP00000504354.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 804,
"cds_start": -4,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.1082-8_1082-7insTTGTGTACTGT",
"hgvs_p": null,
"transcript": "ENST00000679902.1",
"protein_id": "ENSP00000506338.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 772,
"cds_start": -4,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.947-18_947-8dupTTGTGTACTGT",
"hgvs_p": null,
"transcript": "NM_001354927.2",
"protein_id": "NP_001341856.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 761,
"cds_start": -4,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.947-18_947-8dupTTGTGTACTGT",
"hgvs_p": null,
"transcript": "NM_001354928.2",
"protein_id": "NP_001341857.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 761,
"cds_start": -4,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.947-8_947-7insTTGTGTACTGT",
"hgvs_p": null,
"transcript": "ENST00000417448.2",
"protein_id": "ENSP00000399456.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 761,
"cds_start": -4,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.947-8_947-7insTTGTGTACTGT",
"hgvs_p": null,
"transcript": "ENST00000448530.6",
"protein_id": "ENSP00000392088.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 761,
"cds_start": -4,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.947-8_947-7insTTGTGTACTGT",
"hgvs_p": null,
"transcript": "ENST00000678650.1",
"protein_id": "ENSP00000503426.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 761,
"cds_start": -4,
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"cds_length": 2286,
"cdna_start": null,
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"cdna_length": 4362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.947-8_947-7insTTGTGTACTGT",
"hgvs_p": null,
"transcript": "ENST00000679862.1",
"protein_id": "ENSP00000504990.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 760,
"cds_start": -4,
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"cds_length": 2283,
"cdna_start": null,
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"cdna_length": 3159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.1082-8_1082-7insTTGTGTACTGT",
"hgvs_p": null,
"transcript": "ENST00000681335.1",
"protein_id": "ENSP00000505230.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.1082-8_1082-7insTTGTGTACTGT",
"hgvs_p": null,
"transcript": "ENST00000679647.1",
"protein_id": "ENSP00000506216.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.431-8_431-7insTTGTGTACTGT",
"hgvs_p": null,
"transcript": "ENST00000680834.1",
"protein_id": "ENSP00000506387.1",
"transcript_support_level": null,
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"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 8,
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"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.1220-8_1220-7insTTGTGTACTGT",
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"transcript": "ENST00000480327.2",
"protein_id": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.1356-8_1356-7insTTGTGTACTGT",
"hgvs_p": null,
"transcript": "ENST00000493886.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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},
{
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"strand": false,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 9,
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"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.1428-8_1428-7insTTGTGTACTGT",
"hgvs_p": null,
"transcript": "ENST00000676836.2",
"protein_id": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.*1053-8_*1053-7insTTGTGTACTGT",
"hgvs_p": null,
"transcript": "ENST00000678018.1",
"protein_id": "ENSP00000503811.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.*94-8_*94-7insTTGTGTACTGT",
"hgvs_p": null,
"transcript": "ENST00000678465.1",
"protein_id": "ENSP00000504259.1",
"transcript_support_level": null,
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},
{
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"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 9,
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"gene_symbol": "VCP",
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"hgvs_c": "n.1082-8_1082-7insTTGTGTACTGT",
"hgvs_p": null,
"transcript": "ENST00000679204.2",
"protein_id": "ENSP00000503131.2",
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"feature": null
},
{
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"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 9,
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"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.1352-8_1352-7insTTGTGTACTGT",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.1481-8_1481-7insTTGTGTACTGT",
"hgvs_p": null,
"transcript": "ENST00000679800.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.1082-8_1082-7insTTGTGTACTGT",
"hgvs_p": null,
"transcript": "ENST00000680916.1",
"protein_id": "ENSP00000505769.1",
"transcript_support_level": null,
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"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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.*21-8_*21-7insTTGTGTACTGT",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.1354-8_1354-7insTTGTGTACTGT",
"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
}
],
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"dbsnp": "rs11272867",
"frequency_reference_population": 0.6481319,
"hom_count_reference_population": 354099,
"allele_count_reference_population": 1030019,
"gnomad_exomes_af": 0.659147,
"gnomad_genomes_af": 0.543627,
"gnomad_exomes_ac": 947640,
"gnomad_genomes_ac": 82379,
"gnomad_exomes_homalt": 328435,
"gnomad_genomes_homalt": 25664,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.101,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000358901.11",
"gene_symbol": "VCP",
"hgnc_id": 12666,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1082-8_1082-7insTTGTGTACTGT",
"hgvs_p": null
}
],
"clinvar_disease": " Dominant,Amyotrophic Lateral Sclerosis,Frontotemporal dementia and/or amyotrophic lateral sclerosis 6,Inclusion Body Myopathy,Inclusion body myopathy with Paget disease of bone and frontotemporal dementia,VCP-related disorder,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"phenotype_combined": "not specified|Amyotrophic Lateral Sclerosis, Dominant|not provided|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6;Inclusion body myopathy with Paget disease of bone and frontotemporal dementia|VCP-related disorder|Inclusion Body Myopathy, Dominant",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}