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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: 13-95860813-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=95860813&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 95860813,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_020121.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3715G>A",
"hgvs_p": "p.Gly1239Ser",
"transcript": "NM_020121.4",
"protein_id": "NP_064506.3",
"transcript_support_level": null,
"aa_start": 1239,
"aa_end": null,
"aa_length": 1516,
"cds_start": 3715,
"cds_end": null,
"cds_length": 4551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376747.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020121.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3715G>A",
"hgvs_p": "p.Gly1239Ser",
"transcript": "ENST00000376747.8",
"protein_id": "ENSP00000365938.3",
"transcript_support_level": 1,
"aa_start": 1239,
"aa_end": null,
"aa_length": 1516,
"cds_start": 3715,
"cds_end": null,
"cds_length": 4551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020121.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376747.8"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3796G>A",
"hgvs_p": "p.Gly1266Ser",
"transcript": "ENST00000943424.1",
"protein_id": "ENSP00000613483.1",
"transcript_support_level": null,
"aa_start": 1266,
"aa_end": null,
"aa_length": 1543,
"cds_start": 3796,
"cds_end": null,
"cds_length": 4632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943424.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3748G>A",
"hgvs_p": "p.Gly1250Ser",
"transcript": "ENST00000943423.1",
"protein_id": "ENSP00000613482.1",
"transcript_support_level": null,
"aa_start": 1250,
"aa_end": null,
"aa_length": 1527,
"cds_start": 3748,
"cds_end": null,
"cds_length": 4584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943423.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3709G>A",
"hgvs_p": "p.Gly1237Ser",
"transcript": "ENST00000943428.1",
"protein_id": "ENSP00000613487.1",
"transcript_support_level": null,
"aa_start": 1237,
"aa_end": null,
"aa_length": 1514,
"cds_start": 3709,
"cds_end": null,
"cds_length": 4545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943428.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3709G>A",
"hgvs_p": "p.Gly1237Ser",
"transcript": "ENST00000943429.1",
"protein_id": "ENSP00000613488.1",
"transcript_support_level": null,
"aa_start": 1237,
"aa_end": null,
"aa_length": 1514,
"cds_start": 3709,
"cds_end": null,
"cds_length": 4545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943429.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3583G>A",
"hgvs_p": "p.Gly1195Ser",
"transcript": "ENST00000940280.1",
"protein_id": "ENSP00000610339.1",
"transcript_support_level": null,
"aa_start": 1195,
"aa_end": null,
"aa_length": 1472,
"cds_start": 3583,
"cds_end": null,
"cds_length": 4419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940280.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3283G>A",
"hgvs_p": "p.Gly1095Ser",
"transcript": "ENST00000940278.1",
"protein_id": "ENSP00000610337.1",
"transcript_support_level": null,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1372,
"cds_start": 3283,
"cds_end": null,
"cds_length": 4119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940278.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3151G>A",
"hgvs_p": "p.Gly1051Ser",
"transcript": "ENST00000943425.1",
"protein_id": "ENSP00000613484.1",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3151,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943425.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3040G>A",
"hgvs_p": "p.Gly1014Ser",
"transcript": "ENST00000943426.1",
"protein_id": "ENSP00000613485.1",
"transcript_support_level": null,
"aa_start": 1014,
"aa_end": null,
"aa_length": 1291,
"cds_start": 3040,
"cds_end": null,
"cds_length": 3876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943426.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3037G>A",
"hgvs_p": "p.Gly1013Ser",
"transcript": "ENST00000943427.1",
"protein_id": "ENSP00000613486.1",
"transcript_support_level": null,
"aa_start": 1013,
"aa_end": null,
"aa_length": 1290,
"cds_start": 3037,
"cds_end": null,
"cds_length": 3873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943427.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3796G>A",
"hgvs_p": "p.Gly1266Ser",
"transcript": "XM_011521094.2",
"protein_id": "XP_011519396.1",
"transcript_support_level": null,
"aa_start": 1266,
"aa_end": null,
"aa_length": 1590,
"cds_start": 3796,
"cds_end": null,
"cds_length": 4773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521094.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3715G>A",
"hgvs_p": "p.Gly1239Ser",
"transcript": "XM_011521095.2",
"protein_id": "XP_011519397.1",
"transcript_support_level": null,
"aa_start": 1239,
"aa_end": null,
"aa_length": 1563,
"cds_start": 3715,
"cds_end": null,
"cds_length": 4692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521095.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3664G>A",
"hgvs_p": "p.Gly1222Ser",
"transcript": "XM_011521096.2",
"protein_id": "XP_011519398.1",
"transcript_support_level": null,
"aa_start": 1222,
"aa_end": null,
"aa_length": 1546,
"cds_start": 3664,
"cds_end": null,
"cds_length": 4641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521096.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3796G>A",
"hgvs_p": "p.Gly1266Ser",
"transcript": "XM_011521097.2",
"protein_id": "XP_011519399.1",
"transcript_support_level": null,
"aa_start": 1266,
"aa_end": null,
"aa_length": 1543,
"cds_start": 3796,
"cds_end": null,
"cds_length": 4632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521097.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3583G>A",
"hgvs_p": "p.Gly1195Ser",
"transcript": "XM_017020662.2",
"protein_id": "XP_016876151.1",
"transcript_support_level": null,
"aa_start": 1195,
"aa_end": null,
"aa_length": 1519,
"cds_start": 3583,
"cds_end": null,
"cds_length": 4560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020662.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3583G>A",
"hgvs_p": "p.Gly1195Ser",
"transcript": "XM_047430471.1",
"protein_id": "XP_047286427.1",
"transcript_support_level": null,
"aa_start": 1195,
"aa_end": null,
"aa_length": 1472,
"cds_start": 3583,
"cds_end": null,
"cds_length": 4419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430471.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.2896G>A",
"hgvs_p": "p.Gly966Ser",
"transcript": "XM_047430472.1",
"protein_id": "XP_047286428.1",
"transcript_support_level": null,
"aa_start": 966,
"aa_end": null,
"aa_length": 1290,
"cds_start": 2896,
"cds_end": null,
"cds_length": 3873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430472.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.2836G>A",
"hgvs_p": "p.Gly946Ser",
"transcript": "XM_047430473.1",
"protein_id": "XP_047286429.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1270,
"cds_start": 2836,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430473.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.2734G>A",
"hgvs_p": "p.Gly912Ser",
"transcript": "XM_011521099.3",
"protein_id": "XP_011519401.1",
"transcript_support_level": null,
"aa_start": 912,
"aa_end": null,
"aa_length": 1236,
"cds_start": 2734,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521099.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.2635G>A",
"hgvs_p": "p.Gly879Ser",
"transcript": "XM_047430474.1",
"protein_id": "XP_047286430.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 1203,
"cds_start": 2635,
"cds_end": null,
"cds_length": 3612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430474.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.2119G>A",
"hgvs_p": "p.Gly707Ser",
"transcript": "XM_011521102.3",
"protein_id": "XP_011519404.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 1031,
"cds_start": 2119,
"cds_end": null,
"cds_length": 3096,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521102.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.2038G>A",
"hgvs_p": "p.Gly680Ser",
"transcript": "XM_047430475.1",
"protein_id": "XP_047286431.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2038,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430475.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.1780G>A",
"hgvs_p": "p.Gly594Ser",
"transcript": "XM_011521103.3",
"protein_id": "XP_011519405.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 918,
"cds_start": 1780,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521103.3"
},
{
"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": 39,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3726-1138G>A",
"hgvs_p": null,
"transcript": "ENST00000940279.1",
"protein_id": "ENSP00000610338.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1511,
"cds_start": null,
"cds_end": null,
"cds_length": 4536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940279.1"
},
{
"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": 38,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3645-1138G>A",
"hgvs_p": null,
"transcript": "ENST00000940277.1",
"protein_id": "ENSP00000610336.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1484,
"cds_start": null,
"cds_end": null,
"cds_length": 4455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940277.1"
}
],
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"dbsnp": "rs775380168",
"frequency_reference_population": 0.00001933037,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.0000199926,
"gnomad_genomes_af": 0.000013206,
"gnomad_exomes_ac": 28,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7605347633361816,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.25,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.498,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2434,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.108,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.25,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020121.4",
"gene_symbol": "UGGT2",
"hgnc_id": 15664,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3715G>A",
"hgvs_p": "p.Gly1239Ser"
}
],
"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
}