← 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: 19-12949151-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=12949151&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RAD23A",
"hgnc_id": 9812,
"hgvs_c": "c.671C>G",
"hgvs_p": "p.Thr224Arg",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_005053.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.0913,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.15652728080749512,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 363,
"aa_ref": "T",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1772,
"cdna_start": 758,
"cds_end": null,
"cds_length": 1092,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_005053.4",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.671C>G",
"hgvs_p": "p.Thr224Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000586534.6",
"protein_coding": true,
"protein_id": "NP_005044.1",
"strand": true,
"transcript": "NM_005053.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 363,
"aa_ref": "T",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1772,
"cdna_start": 758,
"cds_end": null,
"cds_length": 1092,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000586534.6",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.671C>G",
"hgvs_p": "p.Thr224Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005053.4",
"protein_coding": true,
"protein_id": "ENSP00000467024.1",
"strand": true,
"transcript": "ENST00000586534.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 362,
"aa_ref": "T",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1736,
"cdna_start": 744,
"cds_end": null,
"cds_length": 1089,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000316856.7",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.671C>G",
"hgvs_p": "p.Thr224Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000321365.3",
"strand": true,
"transcript": "ENST00000316856.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 362,
"aa_ref": "T",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1769,
"cdna_start": 758,
"cds_end": null,
"cds_length": 1089,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001270362.2",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.671C>G",
"hgvs_p": "p.Thr224Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001257291.1",
"strand": true,
"transcript": "NM_001270362.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 361,
"aa_ref": "T",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1767,
"cdna_start": 755,
"cds_end": null,
"cds_length": 1086,
"cds_start": 665,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000875551.1",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.665C>G",
"hgvs_p": "p.Thr222Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545610.1",
"strand": true,
"transcript": "ENST00000875551.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 361,
"aa_ref": "T",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1777,
"cdna_start": 765,
"cds_end": null,
"cds_length": 1086,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000925763.1",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.671C>G",
"hgvs_p": "p.Thr224Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595822.1",
"strand": true,
"transcript": "ENST00000925763.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 360,
"aa_ref": "T",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1760,
"cdna_start": 752,
"cds_end": null,
"cds_length": 1083,
"cds_start": 665,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000875552.1",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.665C>G",
"hgvs_p": "p.Thr222Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545611.1",
"strand": true,
"transcript": "ENST00000875552.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 356,
"aa_ref": "T",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1290,
"cdna_start": 737,
"cds_end": null,
"cds_length": 1071,
"cds_start": 650,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000875556.1",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.650C>G",
"hgvs_p": "p.Thr217Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545615.1",
"strand": true,
"transcript": "ENST00000875556.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 355,
"aa_ref": "T",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1747,
"cdna_start": 744,
"cds_end": null,
"cds_length": 1068,
"cds_start": 650,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000943230.1",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.650C>G",
"hgvs_p": "p.Thr217Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613289.1",
"strand": true,
"transcript": "ENST00000943230.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 352,
"aa_ref": "T",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1247,
"cdna_start": 758,
"cds_end": null,
"cds_length": 1059,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000875559.1",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.671C>G",
"hgvs_p": "p.Thr224Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545618.1",
"strand": true,
"transcript": "ENST00000875559.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 349,
"aa_ref": "T",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1728,
"cdna_start": 714,
"cds_end": null,
"cds_length": 1050,
"cds_start": 629,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000925765.1",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.629C>G",
"hgvs_p": "p.Thr210Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595824.1",
"strand": true,
"transcript": "ENST00000925765.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 348,
"aa_ref": "T",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1252,
"cdna_start": 706,
"cds_end": null,
"cds_length": 1047,
"cds_start": 629,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000875557.1",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.629C>G",
"hgvs_p": "p.Thr210Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545616.1",
"strand": true,
"transcript": "ENST00000875557.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 341,
"aa_ref": "T",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1192,
"cdna_start": 682,
"cds_end": null,
"cds_length": 1026,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000943231.1",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.608C>G",
"hgvs_p": "p.Thr203Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613290.1",
"strand": true,
"transcript": "ENST00000943231.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 338,
"aa_ref": "T",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1703,
"cdna_start": 765,
"cds_end": null,
"cds_length": 1017,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000875550.1",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.671C>G",
"hgvs_p": "p.Thr224Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545609.1",
"strand": true,
"transcript": "ENST00000875550.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 337,
"aa_ref": "T",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1205,
"cdna_start": 761,
"cds_end": null,
"cds_length": 1014,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000875558.1",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.671C>G",
"hgvs_p": "p.Thr224Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545617.1",
"strand": true,
"transcript": "ENST00000875558.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 326,
"aa_ref": "T",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1642,
"cdna_start": 636,
"cds_end": null,
"cds_length": 981,
"cds_start": 560,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000875554.1",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.560C>G",
"hgvs_p": "p.Thr187Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545613.1",
"strand": true,
"transcript": "ENST00000875554.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 325,
"aa_ref": "T",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1652,
"cdna_start": 640,
"cds_end": null,
"cds_length": 978,
"cds_start": 560,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000875553.1",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.560C>G",
"hgvs_p": "p.Thr187Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545612.1",
"strand": true,
"transcript": "ENST00000875553.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 313,
"aa_ref": "T",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1622,
"cdna_start": 608,
"cds_end": null,
"cds_length": 942,
"cds_start": 521,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000925764.1",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.521C>G",
"hgvs_p": "p.Thr174Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595823.1",
"strand": true,
"transcript": "ENST00000925764.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 312,
"aa_ref": "T",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1168,
"cdna_start": 622,
"cds_end": null,
"cds_length": 939,
"cds_start": 521,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000875555.1",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.521C>G",
"hgvs_p": "p.Thr174Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545614.1",
"strand": true,
"transcript": "ENST00000875555.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 308,
"aa_ref": "T",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1607,
"cdna_start": 758,
"cds_end": null,
"cds_length": 927,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001270363.2",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.671C>G",
"hgvs_p": "p.Thr224Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001257292.1",
"strand": true,
"transcript": "NM_001270363.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 308,
"aa_ref": "T",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1526,
"cdna_start": 728,
"cds_end": null,
"cds_length": 927,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000592268.5",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.671C>G",
"hgvs_p": "p.Thr224Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468674.1",
"strand": true,
"transcript": "ENST00000592268.5",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 150,
"aa_ref": "T",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 999,
"cdna_start": 68,
"cds_end": null,
"cds_length": 453,
"cds_start": 68,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000590881.1",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.68C>G",
"hgvs_p": "p.Thr23Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467628.1",
"strand": true,
"transcript": "ENST00000590881.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1034,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000588329.5",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "n.1021C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000588329.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 832,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000588826.2",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "n.615C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000588826.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1350,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000591499.5",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "n.*186C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000466243.1",
"strand": true,
"transcript": "ENST00000591499.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1691,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000593114.5",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "n.*234C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000466968.1",
"strand": true,
"transcript": "ENST00000593114.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1871,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000651137.1",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "n.671C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498473.1",
"strand": true,
"transcript": "ENST00000651137.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1716,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NR_072976.2",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "n.702C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_072976.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1350,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000591499.5",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "n.*186C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000466243.1",
"strand": true,
"transcript": "ENST00000591499.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1691,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000593114.5",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "n.*234C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000466968.1",
"strand": true,
"transcript": "ENST00000593114.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 894,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000586375.1",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "n.124-124C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000466226.1",
"strand": true,
"transcript": "ENST00000586375.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs148708384",
"effect": "missense_variant",
"frequency_reference_population": 6.840975e-7,
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84097e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.408,
"pos": 12949151,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.082,
"splice_prediction_selected": "Uncertain_significance",
"splice_score_selected": 0.23999999463558197,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Uncertain_significance",
"spliceai_max_score": 0.24,
"transcript": "NM_005053.4"
}
]
}