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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: 11-18536467-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=18536467&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 18536467,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001040697.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UEVLD",
"gene_hgnc_id": 30866,
"hgvs_c": "c.1063C>T",
"hgvs_p": "p.Leu355Phe",
"transcript": "NM_001040697.4",
"protein_id": "NP_001035787.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 471,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000396197.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040697.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UEVLD",
"gene_hgnc_id": 30866,
"hgvs_c": "c.1063C>T",
"hgvs_p": "p.Leu355Phe",
"transcript": "ENST00000396197.8",
"protein_id": "ENSP00000379500.2",
"transcript_support_level": 5,
"aa_start": 355,
"aa_end": null,
"aa_length": 471,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001040697.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396197.8"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UEVLD",
"gene_hgnc_id": 30866,
"hgvs_c": "c.1063C>T",
"hgvs_p": "p.Leu355Phe",
"transcript": "ENST00000543987.5",
"protein_id": "ENSP00000442974.1",
"transcript_support_level": 1,
"aa_start": 355,
"aa_end": null,
"aa_length": 379,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543987.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UEVLD",
"gene_hgnc_id": 30866,
"hgvs_c": "c.997C>T",
"hgvs_p": "p.Leu333Phe",
"transcript": "ENST00000320750.10",
"protein_id": "ENSP00000323353.6",
"transcript_support_level": 1,
"aa_start": 333,
"aa_end": null,
"aa_length": 357,
"cds_start": 997,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320750.10"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UEVLD",
"gene_hgnc_id": 30866,
"hgvs_c": "c.1180C>T",
"hgvs_p": "p.Leu394Phe",
"transcript": "ENST00000966334.1",
"protein_id": "ENSP00000636393.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 510,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966334.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UEVLD",
"gene_hgnc_id": 30866,
"hgvs_c": "c.1057C>T",
"hgvs_p": "p.Leu353Phe",
"transcript": "ENST00000854036.1",
"protein_id": "ENSP00000524095.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 469,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854036.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UEVLD",
"gene_hgnc_id": 30866,
"hgvs_c": "c.1048C>T",
"hgvs_p": "p.Leu350Phe",
"transcript": "ENST00000966333.1",
"protein_id": "ENSP00000636392.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 466,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966333.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UEVLD",
"gene_hgnc_id": 30866,
"hgvs_c": "c.997C>T",
"hgvs_p": "p.Leu333Phe",
"transcript": "NM_001261382.3",
"protein_id": "NP_001248311.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 449,
"cds_start": 997,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261382.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UEVLD",
"gene_hgnc_id": 30866,
"hgvs_c": "c.997C>T",
"hgvs_p": "p.Leu333Phe",
"transcript": "ENST00000379387.8",
"protein_id": "ENSP00000368697.4",
"transcript_support_level": 2,
"aa_start": 333,
"aa_end": null,
"aa_length": 449,
"cds_start": 997,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379387.8"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UEVLD",
"gene_hgnc_id": 30866,
"hgvs_c": "c.934C>T",
"hgvs_p": "p.Leu312Phe",
"transcript": "ENST00000854039.1",
"protein_id": "ENSP00000524098.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 428,
"cds_start": 934,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854039.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UEVLD",
"gene_hgnc_id": 30866,
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Leu298Phe",
"transcript": "ENST00000854035.1",
"protein_id": "ENSP00000524094.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 414,
"cds_start": 892,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854035.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UEVLD",
"gene_hgnc_id": 30866,
"hgvs_c": "c.826C>T",
"hgvs_p": "p.Leu276Phe",
"transcript": "ENST00000966332.1",
"protein_id": "ENSP00000636391.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 392,
"cds_start": 826,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966332.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UEVLD",
"gene_hgnc_id": 30866,
"hgvs_c": "c.808C>T",
"hgvs_p": "p.Leu270Phe",
"transcript": "ENST00000854038.1",
"protein_id": "ENSP00000524097.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 386,
"cds_start": 808,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854038.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UEVLD",
"gene_hgnc_id": 30866,
"hgvs_c": "c.1063C>T",
"hgvs_p": "p.Leu355Phe",
"transcript": "NM_018314.6",
"protein_id": "NP_060784.3",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 379,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018314.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UEVLD",
"gene_hgnc_id": 30866,
"hgvs_c": "c.763C>T",
"hgvs_p": "p.Leu255Phe",
"transcript": "ENST00000854037.1",
"protein_id": "ENSP00000524096.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 371,
"cds_start": 763,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854037.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UEVLD",
"gene_hgnc_id": 30866,
"hgvs_c": "c.748C>T",
"hgvs_p": "p.Leu250Phe",
"transcript": "ENST00000854034.1",
"protein_id": "ENSP00000524093.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 366,
"cds_start": 748,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854034.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UEVLD",
"gene_hgnc_id": 30866,
"hgvs_c": "c.997C>T",
"hgvs_p": "p.Leu333Phe",
"transcript": "NM_001261383.3",
"protein_id": "NP_001248312.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 357,
"cds_start": 997,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261383.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UEVLD",
"gene_hgnc_id": 30866,
"hgvs_c": "c.718C>T",
"hgvs_p": "p.Leu240Phe",
"transcript": "ENST00000938975.1",
"protein_id": "ENSP00000609034.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 356,
"cds_start": 718,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938975.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UEVLD",
"gene_hgnc_id": 30866,
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Leu225Phe",
"transcript": "NM_001261384.3",
"protein_id": "NP_001248313.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 341,
"cds_start": 673,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261384.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UEVLD",
"gene_hgnc_id": 30866,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Leu317Phe",
"transcript": "NM_001261385.3",
"protein_id": "NP_001248314.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 341,
"cds_start": 949,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261385.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UEVLD",
"gene_hgnc_id": 30866,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Leu317Phe",
"transcript": "ENST00000535484.5",
"protein_id": "ENSP00000441092.1",
"transcript_support_level": 2,
"aa_start": 317,
"aa_end": null,
"aa_length": 341,
"cds_start": 949,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535484.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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},
{
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],
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"gene_symbol": "UEVLD",
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"transcript": "NM_001261386.3",
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"biotype": "protein_coding",
"feature": "NM_001261386.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
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"intron_variant"
],
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"gene_symbol": "UEVLD",
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"transcript": "ENST00000541984.5",
"protein_id": "ENSP00000437538.1",
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"biotype": "protein_coding",
"feature": "ENST00000541984.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
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"gene_symbol": "UEVLD",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000396196.6"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"transcript": "ENST00000539569.1",
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"biotype": "retained_intron",
"feature": "ENST00000539569.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
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"intron_rank": null,
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"gene_symbol": "UEVLD",
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"hgvs_c": "n.834C>T",
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"transcript": "ENST00000540666.5",
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"biotype": "pseudogene",
"feature": "ENST00000540666.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "UEVLD",
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"hgvs_c": "n.*701C>T",
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"transcript": "ENST00000396196.6",
"protein_id": "ENSP00000379499.2",
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"aa_start": null,
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"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": "ENST00000396196.6"
}
],
"gene_symbol": "UEVLD",
"gene_hgnc_id": 30866,
"dbsnp": "rs760469030",
"frequency_reference_population": 0.00002417786,
"hom_count_reference_population": 0,
"allele_count_reference_population": 39,
"gnomad_exomes_af": 0.0000246451,
"gnomad_genomes_af": 0.0000196964,
"gnomad_exomes_ac": 36,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2393479347229004,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.164,
"revel_prediction": "Benign",
"alphamissense_score": 0.1148,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.458,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001040697.4",
"gene_symbol": "UEVLD",
"hgnc_id": 30866,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1063C>T",
"hgvs_p": "p.Leu355Phe"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}