← 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: 12-109499729-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=109499729&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "UBE3B",
"hgnc_id": 13478,
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346Gln",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_130466.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 841745,
"alphamissense_prediction": null,
"alphamissense_score": 0.0529,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"chr": "12",
"clinvar_classification": "Benign",
"clinvar_disease": " Kaufman type,Oculocerebrofacial syndrome,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0000019271437849965878,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "R",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5730,
"cdna_start": 1640,
"cds_end": null,
"cds_length": 3207,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_130466.4",
"gene_hgnc_id": 13478,
"gene_symbol": "UBE3B",
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000342494.8",
"protein_coding": true,
"protein_id": "NP_569733.2",
"strand": true,
"transcript": "NM_130466.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "R",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5730,
"cdna_start": 1640,
"cds_end": null,
"cds_length": 3207,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000342494.8",
"gene_hgnc_id": 13478,
"gene_symbol": "UBE3B",
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_130466.4",
"protein_coding": true,
"protein_id": "ENSP00000340596.3",
"strand": true,
"transcript": "ENST00000342494.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "R",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5620,
"cdna_start": 1527,
"cds_end": null,
"cds_length": 3207,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000434735.6",
"gene_hgnc_id": 13478,
"gene_symbol": "UBE3B",
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391529.2",
"strand": true,
"transcript": "ENST00000434735.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 870,
"aa_ref": "R",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2763,
"cdna_start": 1185,
"cds_end": null,
"cds_length": 2615,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000539599.5",
"gene_hgnc_id": 13478,
"gene_symbol": "UBE3B",
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443131.1",
"strand": true,
"transcript": "ENST00000539599.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 3771,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 29,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000449510.6",
"gene_hgnc_id": 13478,
"gene_symbol": "UBE3B",
"hgvs_c": "n.1037G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000395802.2",
"strand": true,
"transcript": "ENST00000449510.6",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "R",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5385,
"cdna_start": 1295,
"cds_end": null,
"cds_length": 3207,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_183415.3",
"gene_hgnc_id": 13478,
"gene_symbol": "UBE3B",
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_904324.1",
"strand": true,
"transcript": "NM_183415.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "R",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5663,
"cdna_start": 1575,
"cds_end": null,
"cds_length": 3207,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000861742.1",
"gene_hgnc_id": 13478,
"gene_symbol": "UBE3B",
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531801.1",
"strand": true,
"transcript": "ENST00000861742.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "R",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5630,
"cdna_start": 1540,
"cds_end": null,
"cds_length": 3207,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000861743.1",
"gene_hgnc_id": 13478,
"gene_symbol": "UBE3B",
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531802.1",
"strand": true,
"transcript": "ENST00000861743.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "R",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5395,
"cdna_start": 1307,
"cds_end": null,
"cds_length": 3207,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000861744.1",
"gene_hgnc_id": 13478,
"gene_symbol": "UBE3B",
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531803.1",
"strand": true,
"transcript": "ENST00000861744.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1067,
"aa_ref": "R",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5402,
"cdna_start": 1315,
"cds_end": null,
"cds_length": 3204,
"cds_start": 1034,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000962216.1",
"gene_hgnc_id": 13478,
"gene_symbol": "UBE3B",
"hgvs_c": "c.1034G>A",
"hgvs_p": "p.Arg345Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632275.1",
"strand": true,
"transcript": "ENST00000962216.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1022,
"aa_ref": "R",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5421,
"cdna_start": 1466,
"cds_end": null,
"cds_length": 3069,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000861745.1",
"gene_hgnc_id": 13478,
"gene_symbol": "UBE3B",
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531804.1",
"strand": true,
"transcript": "ENST00000861745.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1022,
"aa_ref": "R",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5596,
"cdna_start": 1646,
"cds_end": null,
"cds_length": 3069,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000962217.1",
"gene_hgnc_id": 13478,
"gene_symbol": "UBE3B",
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632276.1",
"strand": true,
"transcript": "ENST00000962217.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "R",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5397,
"cdna_start": 1307,
"cds_end": null,
"cds_length": 3207,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_005253987.3",
"gene_hgnc_id": 13478,
"gene_symbol": "UBE3B",
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005254044.1",
"strand": true,
"transcript": "XM_005253987.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "R",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5279,
"cdna_start": 1189,
"cds_end": null,
"cds_length": 3207,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011538959.3",
"gene_hgnc_id": 13478,
"gene_symbol": "UBE3B",
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011537261.1",
"strand": true,
"transcript": "XM_011538959.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1064,
"aa_ref": "R",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6664,
"cdna_start": 1640,
"cds_end": null,
"cds_length": 3195,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047429844.1",
"gene_hgnc_id": 13478,
"gene_symbol": "UBE3B",
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285800.1",
"strand": true,
"transcript": "XM_047429844.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1064,
"aa_ref": "R",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6319,
"cdna_start": 1295,
"cds_end": null,
"cds_length": 3195,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047429845.1",
"gene_hgnc_id": 13478,
"gene_symbol": "UBE3B",
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285801.1",
"strand": true,
"transcript": "XM_047429845.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "R",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6376,
"cdna_start": 1640,
"cds_end": null,
"cds_length": 3135,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_006719681.4",
"gene_hgnc_id": 13478,
"gene_symbol": "UBE3B",
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006719744.1",
"strand": true,
"transcript": "XM_006719681.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "R",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6031,
"cdna_start": 1295,
"cds_end": null,
"cds_length": 3135,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047429846.1",
"gene_hgnc_id": 13478,
"gene_symbol": "UBE3B",
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285802.1",
"strand": true,
"transcript": "XM_047429846.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "R",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6043,
"cdna_start": 1307,
"cds_end": null,
"cds_length": 3135,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047429847.1",
"gene_hgnc_id": 13478,
"gene_symbol": "UBE3B",
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285803.1",
"strand": true,
"transcript": "XM_047429847.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "R",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5925,
"cdna_start": 1189,
"cds_end": null,
"cds_length": 3135,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047429848.1",
"gene_hgnc_id": 13478,
"gene_symbol": "UBE3B",
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285804.1",
"strand": true,
"transcript": "XM_047429848.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "R",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6373,
"cdna_start": 1640,
"cds_end": null,
"cds_length": 3132,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_006719682.3",
"gene_hgnc_id": 13478,
"gene_symbol": "UBE3B",
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006719745.1",
"strand": true,
"transcript": "XM_006719682.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "R",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6028,
"cdna_start": 1295,
"cds_end": null,
"cds_length": 3132,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047429849.1",
"gene_hgnc_id": 13478,
"gene_symbol": "UBE3B",
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285805.1",
"strand": true,
"transcript": "XM_047429849.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "R",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5922,
"cdna_start": 1189,
"cds_end": null,
"cds_length": 3132,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047429850.1",
"gene_hgnc_id": 13478,
"gene_symbol": "UBE3B",
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285806.1",
"strand": true,
"transcript": "XM_047429850.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1032,
"aa_ref": "R",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7918,
"cdna_start": 1640,
"cds_end": null,
"cds_length": 3099,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011538961.2",
"gene_hgnc_id": 13478,
"gene_symbol": "UBE3B",
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011537263.1",
"strand": true,
"transcript": "XM_011538961.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1032,
"aa_ref": "R",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7573,
"cdna_start": 1295,
"cds_end": null,
"cds_length": 3099,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047429851.1",
"gene_hgnc_id": 13478,
"gene_symbol": "UBE3B",
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285807.1",
"strand": true,
"transcript": "XM_047429851.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1032,
"aa_ref": "R",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7585,
"cdna_start": 1307,
"cds_end": null,
"cds_length": 3099,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047429852.1",
"gene_hgnc_id": 13478,
"gene_symbol": "UBE3B",
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285808.1",
"strand": true,
"transcript": "XM_047429852.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1008,
"aa_ref": "R",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3300,
"cdna_start": 1295,
"cds_end": null,
"cds_length": 3027,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047429853.1",
"gene_hgnc_id": 13478,
"gene_symbol": "UBE3B",
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285809.1",
"strand": true,
"transcript": "XM_047429853.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 561,
"aa_ref": "R",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2414,
"cdna_start": 1640,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047429854.1",
"gene_hgnc_id": 13478,
"gene_symbol": "UBE3B",
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285810.1",
"strand": true,
"transcript": "XM_047429854.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs7298565",
"effect": "missense_variant",
"frequency_reference_population": 0.5222404,
"gene_hgnc_id": 13478,
"gene_symbol": "UBE3B",
"gnomad_exomes_ac": 755039,
"gnomad_exomes_af": 0.51723,
"gnomad_exomes_homalt": 198682,
"gnomad_genomes_ac": 86706,
"gnomad_genomes_af": 0.570352,
"gnomad_genomes_homalt": 25833,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 224515,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "Oculocerebrofacial syndrome, Kaufman type|not provided",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.264,
"pos": 109499729,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.125,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_130466.4"
}
]
}