← Back to variant description
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: 12-109483600-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=109483600&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 109483600,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_130466.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "NM_130466.4",
"protein_id": "NP_569733.2",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1068,
"cds_start": 49,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000342494.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_130466.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "ENST00000342494.8",
"protein_id": "ENSP00000340596.3",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 1068,
"cds_start": 49,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_130466.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342494.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "ENST00000434735.6",
"protein_id": "ENSP00000391529.2",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 1068,
"cds_start": 49,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434735.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "ENST00000539599.5",
"protein_id": "ENSP00000443131.1",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 870,
"cds_start": 49,
"cds_end": null,
"cds_length": 2615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539599.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "ENST00000340074.9",
"protein_id": "ENSP00000342614.5",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 244,
"cds_start": 49,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340074.9"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "ENST00000536398.5",
"protein_id": "ENSP00000440585.1",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 244,
"cds_start": 49,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536398.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "ENST00000540230.5",
"protein_id": "ENSP00000443565.1",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 244,
"cds_start": 49,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540230.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "n.49C>T",
"hgvs_p": null,
"transcript": "ENST00000449510.6",
"protein_id": "ENSP00000395802.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"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": "ENST00000449510.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "NM_183415.3",
"protein_id": "NP_904324.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1068,
"cds_start": 49,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183415.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "ENST00000861742.1",
"protein_id": "ENSP00000531801.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1068,
"cds_start": 49,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861742.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "ENST00000861743.1",
"protein_id": "ENSP00000531802.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1068,
"cds_start": 49,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861743.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "ENST00000861744.1",
"protein_id": "ENSP00000531803.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1068,
"cds_start": 49,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861744.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "ENST00000962216.1",
"protein_id": "ENSP00000632275.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1067,
"cds_start": 49,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962216.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "ENST00000861745.1",
"protein_id": "ENSP00000531804.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1022,
"cds_start": 49,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861745.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "ENST00000962217.1",
"protein_id": "ENSP00000632276.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1022,
"cds_start": 49,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962217.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "ENST00000537063.1",
"protein_id": "ENSP00000437694.1",
"transcript_support_level": 3,
"aa_start": 17,
"aa_end": null,
"aa_length": 247,
"cds_start": 49,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537063.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "NM_001270449.2",
"protein_id": "NP_001257378.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 244,
"cds_start": 49,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270449.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "NM_001270450.2",
"protein_id": "NP_001257379.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 244,
"cds_start": 49,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270450.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "NM_001270451.2",
"protein_id": "NP_001257380.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 244,
"cds_start": 49,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270451.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "XM_005253987.3",
"protein_id": "XP_005254044.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1068,
"cds_start": 49,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005253987.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "XM_011538959.3",
"protein_id": "XP_011537261.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1068,
"cds_start": 49,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538959.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "XM_047429844.1",
"protein_id": "XP_047285800.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1064,
"cds_start": 49,
"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": "XM_047429844.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "XM_047429845.1",
"protein_id": "XP_047285801.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1064,
"cds_start": 49,
"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": "XM_047429845.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "XM_006719681.4",
"protein_id": "XP_006719744.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1044,
"cds_start": 49,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719681.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "XM_047429846.1",
"protein_id": "XP_047285802.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1044,
"cds_start": 49,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429846.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "XM_047429847.1",
"protein_id": "XP_047285803.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1044,
"cds_start": 49,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429847.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "XM_047429848.1",
"protein_id": "XP_047285804.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1044,
"cds_start": 49,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429848.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "XM_006719682.3",
"protein_id": "XP_006719745.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1043,
"cds_start": 49,
"cds_end": null,
"cds_length": 3132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719682.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "XM_047429849.1",
"protein_id": "XP_047285805.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1043,
"cds_start": 49,
"cds_end": null,
"cds_length": 3132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429849.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "XM_047429850.1",
"protein_id": "XP_047285806.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1043,
"cds_start": 49,
"cds_end": null,
"cds_length": 3132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429850.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "XM_011538961.2",
"protein_id": "XP_011537263.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1032,
"cds_start": 49,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538961.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "XM_047429851.1",
"protein_id": "XP_047285807.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1032,
"cds_start": 49,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429851.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "XM_047429852.1",
"protein_id": "XP_047285808.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1032,
"cds_start": 49,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429852.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "XM_047429853.1",
"protein_id": "XP_047285809.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1008,
"cds_start": 49,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429853.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "XM_047429854.1",
"protein_id": "XP_047285810.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 561,
"cds_start": 49,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429854.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "XM_017020196.2",
"protein_id": "XP_016875685.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 244,
"cds_start": 49,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020196.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "n.313C>T",
"hgvs_p": null,
"transcript": "ENST00000539843.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"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": "retained_intron",
"feature": "ENST00000539843.5"
}
],
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"dbsnp": "rs556951575",
"frequency_reference_population": 0.000055231612,
"hom_count_reference_population": 0,
"allele_count_reference_population": 89,
"gnomad_exomes_af": 0.000038379,
"gnomad_genomes_af": 0.000216726,
"gnomad_exomes_ac": 56,
"gnomad_genomes_ac": 33,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11654269695281982,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.224,
"revel_prediction": "Benign",
"alphamissense_score": 0.6176,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.438,
"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_130466.4",
"gene_symbol": "UBE3B",
"hgnc_id": 13478,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys"
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}