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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: 12-109786798-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=109786798&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 109786798,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000261740.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Val750Ile",
"transcript": "NM_021625.5",
"protein_id": "NP_067638.3",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 871,
"cds_start": 2248,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 2328,
"cdna_end": null,
"cdna_length": 3228,
"mane_select": "ENST00000261740.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Val750Ile",
"transcript": "ENST00000261740.7",
"protein_id": "ENSP00000261740.2",
"transcript_support_level": 1,
"aa_start": 750,
"aa_end": null,
"aa_length": 871,
"cds_start": 2248,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 2328,
"cdna_end": null,
"cdna_length": 3228,
"mane_select": "NM_021625.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Val750Ile",
"transcript": "ENST00000418703.7",
"protein_id": "ENSP00000406191.2",
"transcript_support_level": 1,
"aa_start": 750,
"aa_end": null,
"aa_length": 871,
"cds_start": 2248,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 2343,
"cdna_end": null,
"cdna_length": 3245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2146G>A",
"hgvs_p": "p.Val716Ile",
"transcript": "ENST00000536838.1",
"protein_id": "ENSP00000444336.1",
"transcript_support_level": 1,
"aa_start": 716,
"aa_end": null,
"aa_length": 837,
"cds_start": 2146,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2146,
"cdna_end": null,
"cdna_length": 2514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2107G>A",
"hgvs_p": "p.Val703Ile",
"transcript": "ENST00000541794.5",
"protein_id": "ENSP00000442167.1",
"transcript_support_level": 1,
"aa_start": 703,
"aa_end": null,
"aa_length": 824,
"cds_start": 2107,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 2107,
"cdna_end": null,
"cdna_length": 2475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2068G>A",
"hgvs_p": "p.Val690Ile",
"transcript": "ENST00000537083.5",
"protein_id": "ENSP00000442738.1",
"transcript_support_level": 1,
"aa_start": 690,
"aa_end": null,
"aa_length": 811,
"cds_start": 2068,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 2068,
"cdna_end": null,
"cdna_length": 2436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1927G>A",
"hgvs_p": "p.Val643Ile",
"transcript": "ENST00000544971.5",
"protein_id": "ENSP00000443611.1",
"transcript_support_level": 1,
"aa_start": 643,
"aa_end": null,
"aa_length": 764,
"cds_start": 1927,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1927,
"cdna_end": null,
"cdna_length": 2295,
"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": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "n.*631G>A",
"hgvs_p": null,
"transcript": "ENST00000538125.5",
"protein_id": "ENSP00000437449.1",
"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": 2804,
"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": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "n.*631G>A",
"hgvs_p": null,
"transcript": "ENST00000538125.5",
"protein_id": "ENSP00000437449.1",
"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": 2804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Val750Ile",
"transcript": "ENST00000675670.1",
"protein_id": "ENSP00000502135.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 871,
"cds_start": 2248,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 2697,
"cdna_end": null,
"cdna_length": 3597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2146G>A",
"hgvs_p": "p.Val716Ile",
"transcript": "NM_001177431.1",
"protein_id": "NP_001170902.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 837,
"cds_start": 2146,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2146,
"cdna_end": null,
"cdna_length": 3048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2107G>A",
"hgvs_p": "p.Val703Ile",
"transcript": "NM_001177428.1",
"protein_id": "NP_001170899.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 824,
"cds_start": 2107,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 2138,
"cdna_end": null,
"cdna_length": 3040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2068G>A",
"hgvs_p": "p.Val690Ile",
"transcript": "NM_147204.2",
"protein_id": "NP_671737.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 811,
"cds_start": 2068,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 2099,
"cdna_end": null,
"cdna_length": 3001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1927G>A",
"hgvs_p": "p.Val643Ile",
"transcript": "NM_001177433.1",
"protein_id": "NP_001170904.1",
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"aa_end": null,
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"cds_start": 1927,
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"cdna_start": 1958,
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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": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2401G>A",
"hgvs_p": "p.Val801Ile",
"transcript": "XM_011538630.3",
"protein_id": "XP_011536932.2",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 922,
"cds_start": 2401,
"cds_end": null,
"cds_length": 2769,
"cdna_start": 3439,
"cdna_end": null,
"cdna_length": 4341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2260G>A",
"hgvs_p": "p.Val754Ile",
"transcript": "XM_011538631.3",
"protein_id": "XP_011536933.2",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 875,
"cds_start": 2260,
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"cdna_start": 3298,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Val750Ile",
"transcript": "XM_017019774.2",
"protein_id": "XP_016875263.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 871,
"cds_start": 2248,
"cds_end": null,
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"cdna_start": 3072,
"cdna_end": null,
"cdna_length": 3974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2221G>A",
"hgvs_p": "p.Val741Ile",
"transcript": "XM_011538632.3",
"protein_id": "XP_011536934.2",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 862,
"cds_start": 2221,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 3259,
"cdna_end": null,
"cdna_length": 4161,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2107G>A",
"hgvs_p": "p.Val703Ile",
"transcript": "XM_047429293.1",
"protein_id": "XP_047285249.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2080G>A",
"hgvs_p": "p.Val694Ile",
"transcript": "XM_011538633.3",
"protein_id": "XP_011536935.2",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 815,
"cds_start": 2080,
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"cds_length": 2448,
"cdna_start": 3119,
"cdna_end": null,
"cdna_length": 4021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2068G>A",
"hgvs_p": "p.Val690Ile",
"transcript": "XM_047429294.1",
"protein_id": "XP_047285250.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 811,
"cds_start": 2068,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 2148,
"cdna_end": null,
"cdna_length": 3050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1927G>A",
"hgvs_p": "p.Val643Ile",
"transcript": "XM_047429295.1",
"protein_id": "XP_047285251.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 764,
"cds_start": 1927,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 2007,
"cdna_end": null,
"cdna_length": 2909,
"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": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "n.*1335G>A",
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"transcript": "ENST00000674908.1",
"protein_id": "ENSP00000502012.1",
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"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": 3266,
"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": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "n.*1335G>A",
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"transcript": "ENST00000674908.1",
"protein_id": "ENSP00000502012.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 3266,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "n.*12G>A",
"hgvs_p": null,
"transcript": "ENST00000675533.1",
"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": 2326,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.*78G>A",
"hgvs_p": null,
"transcript": "XM_011538634.3",
"protein_id": "XP_011536936.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 793,
"cds_start": -4,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"dbsnp": "rs148171058",
"frequency_reference_population": 0.0015093217,
"hom_count_reference_population": 7,
"allele_count_reference_population": 2436,
"gnomad_exomes_af": 0.00153996,
"gnomad_genomes_af": 0.00121515,
"gnomad_exomes_ac": 2251,
"gnomad_genomes_ac": 185,
"gnomad_exomes_homalt": 7,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.017172783613204956,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.38,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.094,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.204,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000261740.7",
"gene_symbol": "TRPV4",
"hgnc_id": 18083,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Val750Ile"
}
],
"clinvar_disease": " Kozlowski type, autosomal dominant 8, distal hereditary motor,Brachyrachia (short spine dysplasia),Charcot-Marie-Tooth disease,Charcot-Marie-Tooth disease axonal type 2C,Inborn genetic diseases,Metatropic dysplasia,Neuronopathy,Scapuloperoneal spinal muscular atrophy,Spondylometaphyseal dysplasia,TRPV4-related disorder,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:6 B:8",
"phenotype_combined": "Scapuloperoneal spinal muscular atrophy|Brachyrachia (short spine dysplasia)|Spondylometaphyseal dysplasia, Kozlowski type|not provided|not specified|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease axonal type 2C|Neuronopathy, distal hereditary motor, autosomal dominant 8|Metatropic dysplasia|Inborn genetic diseases|TRPV4-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}