← 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: X-19358926-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=19358926&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PVS1",
"PM6_Supporting",
"PP4"
],
"effects": [
"stop_gained"
],
"gene_symbol": "PDHA1",
"hgnc_id": 8806,
"hgvs_c": "c.1024C>T",
"hgvs_p": "p.Arg342*",
"inheritance_mode": "AR,XL",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_001173454.2",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PVS1,PM6_Supporting,PP4",
"acmg_score": 12,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.51,
"chr": "X",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Pyruvate dehydrogenase E1-alpha deficiency,Pyruvate dehydrogenase complex deficiency,not provided",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "P:5",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5099999904632568,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 390,
"aa_ref": "R",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3349,
"cdna_start": 1021,
"cds_end": null,
"cds_length": 1173,
"cds_start": 910,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_000284.4",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "c.910C>T",
"hgvs_p": "p.Arg304*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000422285.7",
"protein_coding": true,
"protein_id": "NP_000275.1",
"strand": true,
"transcript": "NM_000284.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 390,
"aa_ref": "R",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3349,
"cdna_start": 1021,
"cds_end": null,
"cds_length": 1173,
"cds_start": 910,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000422285.7",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "c.910C>T",
"hgvs_p": "p.Arg304*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000284.4",
"protein_coding": true,
"protein_id": "ENSP00000394382.2",
"strand": true,
"transcript": "ENST00000422285.7",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 456,
"aa_ref": "R",
"aa_start": 370,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3545,
"cdna_start": 1252,
"cds_end": null,
"cds_length": 1371,
"cds_start": 1108,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000947567.1",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "c.1108C>T",
"hgvs_p": "p.Arg370*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617626.1",
"strand": true,
"transcript": "ENST00000947567.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 443,
"aa_ref": "R",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1586,
"cdna_start": 1131,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1069,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000947577.1",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "c.1069C>T",
"hgvs_p": "p.Arg357*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617636.1",
"strand": true,
"transcript": "ENST00000947577.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 436,
"aa_ref": "R",
"aa_start": 350,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3445,
"cdna_start": 1156,
"cds_end": null,
"cds_length": 1311,
"cds_start": 1048,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000881112.1",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "c.1048C>T",
"hgvs_p": "p.Arg350*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551171.1",
"strand": true,
"transcript": "ENST00000881112.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 435,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1610,
"cdna_start": 1147,
"cds_end": null,
"cds_length": 1308,
"cds_start": 1045,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000881116.1",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "c.1045C>T",
"hgvs_p": "p.Arg349*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551175.1",
"strand": true,
"transcript": "ENST00000881116.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 428,
"aa_ref": "R",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3430,
"cdna_start": 1135,
"cds_end": null,
"cds_length": 1287,
"cds_start": 1024,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001173454.2",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "c.1024C>T",
"hgvs_p": "p.Arg342*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001166925.1",
"strand": true,
"transcript": "NM_001173454.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 428,
"aa_ref": "R",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3463,
"cdna_start": 1135,
"cds_end": null,
"cds_length": 1287,
"cds_start": 1024,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000423505.6",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "c.1024C>T",
"hgvs_p": "p.Arg342*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000406473.2",
"strand": true,
"transcript": "ENST00000423505.6",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 418,
"aa_ref": "R",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1518,
"cdna_start": 1069,
"cds_end": null,
"cds_length": 1257,
"cds_start": 994,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000417819.6",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "c.994C>T",
"hgvs_p": "p.Arg332*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404616.2",
"strand": true,
"transcript": "ENST00000417819.6",
"transcript_support_level": 3
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1546,
"cdna_start": 1082,
"cds_end": null,
"cds_length": 1239,
"cds_start": 976,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000947571.1",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "c.976C>T",
"hgvs_p": "p.Arg326*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617630.1",
"strand": true,
"transcript": "ENST00000947571.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 405,
"aa_ref": "R",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1536,
"cdna_start": 1082,
"cds_end": null,
"cds_length": 1218,
"cds_start": 955,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000881114.1",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551173.1",
"strand": true,
"transcript": "ENST00000881114.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 404,
"aa_ref": "R",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3337,
"cdna_start": 1042,
"cds_end": null,
"cds_length": 1215,
"cds_start": 952,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000927451.1",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "c.952C>T",
"hgvs_p": "p.Arg318*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597510.1",
"strand": true,
"transcript": "ENST00000927451.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 400,
"aa_ref": "R",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1466,
"cdna_start": 986,
"cds_end": null,
"cds_length": 1203,
"cds_start": 910,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000947576.1",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "c.910C>T",
"hgvs_p": "p.Arg304*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617635.1",
"strand": true,
"transcript": "ENST00000947576.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 397,
"aa_ref": "R",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3337,
"cdna_start": 1042,
"cds_end": null,
"cds_length": 1194,
"cds_start": 931,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001173455.2",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Arg311*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001166926.1",
"strand": true,
"transcript": "NM_001173455.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 397,
"aa_ref": "R",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3330,
"cdna_start": 1042,
"cds_end": null,
"cds_length": 1194,
"cds_start": 931,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000355808.10",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Arg311*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348062.6",
"strand": true,
"transcript": "ENST00000355808.10",
"transcript_support_level": 3
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 397,
"aa_ref": "R",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1485,
"cdna_start": 1037,
"cds_end": null,
"cds_length": 1194,
"cds_start": 931,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000881118.1",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Arg311*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551177.1",
"strand": true,
"transcript": "ENST00000881118.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 391,
"aa_ref": "R",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1484,
"cdna_start": 1024,
"cds_end": null,
"cds_length": 1176,
"cds_start": 913,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000881115.1",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "c.913C>T",
"hgvs_p": "p.Arg305*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551174.1",
"strand": true,
"transcript": "ENST00000881115.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 388,
"aa_ref": "R",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3306,
"cdna_start": 1014,
"cds_end": null,
"cds_length": 1167,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000947570.1",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Arg302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617629.1",
"strand": true,
"transcript": "ENST00000947570.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 387,
"aa_ref": "R",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3317,
"cdna_start": 1012,
"cds_end": null,
"cds_length": 1164,
"cds_start": 901,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000947568.1",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "c.901C>T",
"hgvs_p": "p.Arg301*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617627.1",
"strand": true,
"transcript": "ENST00000947568.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 381,
"aa_ref": "R",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1439,
"cdna_start": 975,
"cds_end": null,
"cds_length": 1146,
"cds_start": 883,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000947573.1",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "c.883C>T",
"hgvs_p": "p.Arg295*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617632.1",
"strand": true,
"transcript": "ENST00000947573.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 370,
"aa_ref": "R",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1426,
"cdna_start": 961,
"cds_end": null,
"cds_length": 1113,
"cds_start": 850,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000927453.1",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "c.850C>T",
"hgvs_p": "p.Arg284*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597512.1",
"strand": true,
"transcript": "ENST00000927453.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 366,
"aa_ref": "R",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1396,
"cdna_start": 933,
"cds_end": null,
"cds_length": 1101,
"cds_start": 838,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000881117.1",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "c.838C>T",
"hgvs_p": "p.Arg280*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551176.1",
"strand": true,
"transcript": "ENST00000881117.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 366,
"aa_ref": "R",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1379,
"cdna_start": 914,
"cds_end": null,
"cds_length": 1101,
"cds_start": 838,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000927455.1",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "c.838C>T",
"hgvs_p": "p.Arg280*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597514.1",
"strand": true,
"transcript": "ENST00000927455.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 359,
"aa_ref": "R",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3223,
"cdna_start": 928,
"cds_end": null,
"cds_length": 1080,
"cds_start": 817,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001173456.2",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "c.817C>T",
"hgvs_p": "p.Arg273*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001166927.1",
"strand": true,
"transcript": "NM_001173456.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 359,
"aa_ref": "R",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3277,
"cdna_start": 962,
"cds_end": null,
"cds_length": 1080,
"cds_start": 817,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000540249.5",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "c.817C>T",
"hgvs_p": "p.Arg273*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440761.1",
"strand": true,
"transcript": "ENST00000540249.5",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 358,
"aa_ref": "R",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1337,
"cdna_start": 887,
"cds_end": null,
"cds_length": 1077,
"cds_start": 814,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000927456.1",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597515.1",
"strand": true,
"transcript": "ENST00000927456.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 339,
"aa_ref": "R",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1290,
"cdna_start": 833,
"cds_end": null,
"cds_length": 1020,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000947575.1",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617634.1",
"strand": true,
"transcript": "ENST00000947575.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 338,
"aa_ref": "R",
"aa_start": 252,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1310,
"cdna_start": 856,
"cds_end": null,
"cds_length": 1017,
"cds_start": 754,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000947572.1",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "c.754C>T",
"hgvs_p": "p.Arg252*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617631.1",
"strand": true,
"transcript": "ENST00000947572.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 327,
"aa_ref": "R",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3057,
"cdna_start": 762,
"cds_end": null,
"cds_length": 984,
"cds_start": 721,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000881113.1",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "c.721C>T",
"hgvs_p": "p.Arg241*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551172.1",
"strand": true,
"transcript": "ENST00000881113.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 317,
"aa_ref": "R",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1230,
"cdna_start": 783,
"cds_end": null,
"cds_length": 954,
"cds_start": 691,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000947574.1",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "c.691C>T",
"hgvs_p": "p.Arg231*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617633.1",
"strand": true,
"transcript": "ENST00000947574.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 307,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1166,
"cdna_start": 709,
"cds_end": null,
"cds_length": 924,
"cds_start": 661,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000947578.1",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "c.661C>T",
"hgvs_p": "p.Arg221*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617637.1",
"strand": true,
"transcript": "ENST00000947578.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 286,
"aa_ref": "R",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1151,
"cdna_start": 686,
"cds_end": null,
"cds_length": 861,
"cds_start": 598,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000927454.1",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "c.598C>T",
"hgvs_p": "p.Arg200*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597513.1",
"strand": true,
"transcript": "ENST00000927454.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 210,
"aa_ref": "R",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2776,
"cdna_start": 481,
"cds_end": null,
"cds_length": 633,
"cds_start": 370,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000947569.1",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "c.370C>T",
"hgvs_p": "p.Arg124*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617628.1",
"strand": true,
"transcript": "ENST00000947569.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 208,
"aa_ref": "R",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 951,
"cdna_start": 496,
"cds_end": null,
"cds_length": 627,
"cds_start": 364,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000927452.1",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Arg122*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597511.1",
"strand": true,
"transcript": "ENST00000927452.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 397,
"aa_ref": "R",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3370,
"cdna_start": 1042,
"cds_end": null,
"cds_length": 1194,
"cds_start": 931,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_017029574.3",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Arg311*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016885063.1",
"strand": true,
"transcript": "XM_017029574.3",
"transcript_support_level": null
},
{
"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": 709,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000379804.1",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "n.255C>T",
"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": "ENST00000379804.1",
"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": 1672,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000379805.4",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "n.*602C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000369133.3",
"strand": true,
"transcript": "ENST00000379805.4",
"transcript_support_level": 2
},
{
"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": 791,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000478795.1",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "n.349C>T",
"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": "ENST00000478795.1",
"transcript_support_level": 2
},
{
"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": 1162,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000481733.2",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "n.705C>T",
"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": "ENST00000481733.2",
"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": 3111,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000696704.1",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "n.*242C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000512823.1",
"strand": true,
"transcript": "ENST00000696704.1",
"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": 3257,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000696705.1",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "n.*365C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000512824.1",
"strand": true,
"transcript": "ENST00000696705.1",
"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": 1672,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000379805.4",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "n.*602C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000369133.3",
"strand": true,
"transcript": "ENST00000379805.4",
"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": 3111,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000696704.1",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "n.*242C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000512823.1",
"strand": true,
"transcript": "ENST00000696704.1",
"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": 3257,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000696705.1",
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"hgvs_c": "n.*365C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000512824.1",
"strand": true,
"transcript": "ENST00000696705.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs863224146",
"effect": "stop_gained",
"frequency_reference_population": null,
"gene_hgnc_id": 8806,
"gene_symbol": "PDHA1",
"gnomad_exomes_ac": 0,
"gnomad_exomes_af": 0,
"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": "Pathogenic",
"phenotype_combined": "not provided|Pyruvate dehydrogenase E1-alpha deficiency|Pyruvate dehydrogenase complex deficiency",
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.004,
"pos": 19358926,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001173454.2"
}
]
}