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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: 1-10072095-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=10072095&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 10072095,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001410744.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE4B",
"gene_hgnc_id": 12500,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Ser31Phe",
"transcript": "NM_001105562.3",
"protein_id": "NP_001099032.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1302,
"cds_start": 92,
"cds_end": null,
"cds_length": 3909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000343090.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105562.3"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE4B",
"gene_hgnc_id": 12500,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Ser31Phe",
"transcript": "ENST00000343090.11",
"protein_id": "ENSP00000343001.6",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 1302,
"cds_start": 92,
"cds_end": null,
"cds_length": 3909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001105562.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343090.11"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE4B",
"gene_hgnc_id": 12500,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Ser31Phe",
"transcript": "ENST00000253251.12",
"protein_id": "ENSP00000253251.8",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 1173,
"cds_start": 92,
"cds_end": null,
"cds_length": 3522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000253251.12"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE4B",
"gene_hgnc_id": 12500,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Ser31Phe",
"transcript": "NM_001410744.1",
"protein_id": "NP_001397673.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1353,
"cds_start": 92,
"cds_end": null,
"cds_length": 4062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410744.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE4B",
"gene_hgnc_id": 12500,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Ser31Phe",
"transcript": "ENST00000672724.1",
"protein_id": "ENSP00000500453.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1353,
"cds_start": 92,
"cds_end": null,
"cds_length": 4062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672724.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE4B",
"gene_hgnc_id": 12500,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Ser31Phe",
"transcript": "ENST00000963443.1",
"protein_id": "ENSP00000633502.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1336,
"cds_start": 92,
"cds_end": null,
"cds_length": 4011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963443.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE4B",
"gene_hgnc_id": 12500,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Ser31Phe",
"transcript": "ENST00000892379.1",
"protein_id": "ENSP00000562438.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1226,
"cds_start": 92,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892379.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE4B",
"gene_hgnc_id": 12500,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Ser31Phe",
"transcript": "ENST00000921026.1",
"protein_id": "ENSP00000591085.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1201,
"cds_start": 92,
"cds_end": null,
"cds_length": 3606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921026.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE4B",
"gene_hgnc_id": 12500,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Ser31Phe",
"transcript": "ENST00000921033.1",
"protein_id": "ENSP00000591092.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1194,
"cds_start": 92,
"cds_end": null,
"cds_length": 3585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921033.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE4B",
"gene_hgnc_id": 12500,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Ser31Phe",
"transcript": "NM_006048.5",
"protein_id": "NP_006039.2",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1173,
"cds_start": 92,
"cds_end": null,
"cds_length": 3522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006048.5"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE4B",
"gene_hgnc_id": 12500,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Ser31Phe",
"transcript": "ENST00000921027.1",
"protein_id": "ENSP00000591086.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1172,
"cds_start": 92,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921027.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE4B",
"gene_hgnc_id": 12500,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Ser31Phe",
"transcript": "ENST00000892381.1",
"protein_id": "ENSP00000562440.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1171,
"cds_start": 92,
"cds_end": null,
"cds_length": 3516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892381.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE4B",
"gene_hgnc_id": 12500,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Ser31Phe",
"transcript": "ENST00000892384.1",
"protein_id": "ENSP00000562443.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1159,
"cds_start": 92,
"cds_end": null,
"cds_length": 3480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892384.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE4B",
"gene_hgnc_id": 12500,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Ser31Phe",
"transcript": "ENST00000921030.1",
"protein_id": "ENSP00000591089.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1158,
"cds_start": 92,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921030.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE4B",
"gene_hgnc_id": 12500,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Ser31Phe",
"transcript": "ENST00000921031.1",
"protein_id": "ENSP00000591090.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1142,
"cds_start": 92,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921031.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE4B",
"gene_hgnc_id": 12500,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Ser31Phe",
"transcript": "ENST00000892380.1",
"protein_id": "ENSP00000562439.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1135,
"cds_start": 92,
"cds_end": null,
"cds_length": 3408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892380.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE4B",
"gene_hgnc_id": 12500,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Ser31Phe",
"transcript": "ENST00000921032.1",
"protein_id": "ENSP00000591091.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1109,
"cds_start": 92,
"cds_end": null,
"cds_length": 3330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921032.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE4B",
"gene_hgnc_id": 12500,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Ser31Phe",
"transcript": "ENST00000892382.1",
"protein_id": "ENSP00000562441.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1101,
"cds_start": 92,
"cds_end": null,
"cds_length": 3306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892382.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE4B",
"gene_hgnc_id": 12500,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Ser31Phe",
"transcript": "ENST00000892383.1",
"protein_id": "ENSP00000562442.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1097,
"cds_start": 92,
"cds_end": null,
"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892383.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE4B",
"gene_hgnc_id": 12500,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Ser31Phe",
"transcript": "ENST00000921028.1",
"protein_id": "ENSP00000591087.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1064,
"cds_start": 92,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921028.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE4B",
"gene_hgnc_id": 12500,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Ser31Phe",
"transcript": "ENST00000921034.1",
"protein_id": "ENSP00000591093.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 943,
"cds_start": 92,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921034.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE4B",
"gene_hgnc_id": 12500,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Ser31Phe",
"transcript": "ENST00000921029.1",
"protein_id": "ENSP00000591088.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 554,
"cds_start": 92,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921029.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE4B",
"gene_hgnc_id": 12500,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Ser31Phe",
"transcript": "ENST00000377153.5",
"protein_id": "ENSP00000366358.1",
"transcript_support_level": 3,
"aa_start": 31,
"aa_end": null,
"aa_length": 100,
"cds_start": 92,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377153.5"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE4B",
"gene_hgnc_id": 12500,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Ser31Phe",
"transcript": "XM_011540489.4",
"protein_id": "XP_011538791.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1184,
"cds_start": 92,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540489.4"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE4B",
"gene_hgnc_id": 12500,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Ser31Phe",
"transcript": "XM_011540490.3",
"protein_id": "XP_011538792.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1172,
"cds_start": 92,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540490.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE4B",
"gene_hgnc_id": 12500,
"hgvs_c": "c.-86C>T",
"hgvs_p": null,
"transcript": "XM_047428018.1",
"protein_id": "XP_047283974.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1294,
"cds_start": null,
"cds_end": null,
"cds_length": 3885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428018.1"
}
],
"gene_symbol": "UBE4B",
"gene_hgnc_id": 12500,
"dbsnp": "rs1218690250",
"frequency_reference_population": 0.0000030990916,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000273753,
"gnomad_genomes_af": 0.00000657004,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.48958900570869446,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.24,
"revel_prediction": "Benign",
"alphamissense_score": 0.8525,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.248,
"phylop100way_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001410744.1",
"gene_symbol": "UBE4B",
"hgnc_id": 12500,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Ser31Phe"
}
],
"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
}