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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 13-113118772-TGT-GGG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=113118772&ref=TGT&alt=GGG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1_Very_Strong",
"PM1",
"PP2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "F7",
"hgnc_id": 3544,
"hgvs_c": "c.1165_1167delTGTinsGGG",
"hgvs_p": "p.Cys389Gly",
"inheritance_mode": "AR",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_000131.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS1_Very_Strong,PM1,PP2,PP3",
"acmg_score": 12,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GGG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "13",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 444,
"aa_ref": "C",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3063,
"cdna_start": 1150,
"cds_end": null,
"cds_length": 1335,
"cds_start": 1099,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_019616.4",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.1099_1101delTGTinsGGG",
"hgvs_p": "p.Cys367Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000346342.8",
"protein_coding": true,
"protein_id": "NP_062562.1",
"strand": true,
"transcript": "NM_019616.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 444,
"aa_ref": "C",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3063,
"cdna_start": 1150,
"cds_end": null,
"cds_length": 1335,
"cds_start": 1099,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000346342.8",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.1099_1101delTGTinsGGG",
"hgvs_p": "p.Cys367Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_019616.4",
"protein_coding": true,
"protein_id": "ENSP00000329546.4",
"strand": true,
"transcript": "ENST00000346342.8",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 466,
"aa_ref": "C",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3109,
"cdna_start": 1200,
"cds_end": null,
"cds_length": 1401,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000375581.3",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.1165_1167delTGTinsGGG",
"hgvs_p": "p.Cys389Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364731.3",
"strand": true,
"transcript": "ENST00000375581.3",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 515,
"aa_ref": "C",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2566,
"cdna_start": 1329,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1312,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891255.1",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.1312_1314delTGTinsGGG",
"hgvs_p": "p.Cys438Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561314.1",
"strand": true,
"transcript": "ENST00000891255.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 502,
"aa_ref": "C",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2576,
"cdna_start": 1324,
"cds_end": null,
"cds_length": 1509,
"cds_start": 1273,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891251.1",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.1273_1275delTGTinsGGG",
"hgvs_p": "p.Cys425Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561310.1",
"strand": true,
"transcript": "ENST00000891251.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 501,
"aa_ref": "C",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2580,
"cdna_start": 1321,
"cds_end": null,
"cds_length": 1506,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891248.1",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.1270_1272delTGTinsGGG",
"hgvs_p": "p.Cys424Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561307.1",
"strand": true,
"transcript": "ENST00000891248.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 482,
"aa_ref": "C",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2458,
"cdna_start": 1224,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1213,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891256.1",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.1213_1215delTGTinsGGG",
"hgvs_p": "p.Cys405Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561315.1",
"strand": true,
"transcript": "ENST00000891256.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 481,
"aa_ref": "C",
"aa_start": 404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2520,
"cdna_start": 1261,
"cds_end": null,
"cds_length": 1446,
"cds_start": 1210,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891247.1",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.1210_1212delTGTinsGGG",
"hgvs_p": "p.Cys404Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561306.1",
"strand": true,
"transcript": "ENST00000891247.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 480,
"aa_ref": "C",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3193,
"cdna_start": 1285,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1207,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891240.1",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.1207_1209delTGTinsGGG",
"hgvs_p": "p.Cys403Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561299.1",
"strand": true,
"transcript": "ENST00000891240.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 480,
"aa_ref": "C",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1632,
"cdna_start": 1258,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1207,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891257.1",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.1207_1209delTGTinsGGG",
"hgvs_p": "p.Cys403Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561316.1",
"strand": true,
"transcript": "ENST00000891257.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 479,
"aa_ref": "C",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3170,
"cdna_start": 1258,
"cds_end": null,
"cds_length": 1440,
"cds_start": 1204,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891241.1",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.1204_1206delTGTinsGGG",
"hgvs_p": "p.Cys402Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561300.1",
"strand": true,
"transcript": "ENST00000891241.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 474,
"aa_ref": "C",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2477,
"cdna_start": 1240,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1189,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891252.1",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.1189_1191delTGTinsGGG",
"hgvs_p": "p.Cys397Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561311.1",
"strand": true,
"transcript": "ENST00000891252.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 467,
"aa_ref": "C",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2456,
"cdna_start": 1219,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891254.1",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.1168_1170delTGTinsGGG",
"hgvs_p": "p.Cys390Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561313.1",
"strand": true,
"transcript": "ENST00000891254.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 466,
"aa_ref": "C",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3129,
"cdna_start": 1216,
"cds_end": null,
"cds_length": 1401,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000131.5",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.1165_1167delTGTinsGGG",
"hgvs_p": "p.Cys389Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000122.1",
"strand": true,
"transcript": "NM_000131.5",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 443,
"aa_ref": "C",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2409,
"cdna_start": 1150,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1096,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891243.1",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.1096_1098delTGTinsGGG",
"hgvs_p": "p.Cys366Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561302.1",
"strand": true,
"transcript": "ENST00000891243.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 443,
"aa_ref": "C",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2402,
"cdna_start": 1147,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1096,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891250.1",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.1096_1098delTGTinsGGG",
"hgvs_p": "p.Cys366Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561309.1",
"strand": true,
"transcript": "ENST00000891250.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 441,
"aa_ref": "C",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2400,
"cdna_start": 1141,
"cds_end": null,
"cds_length": 1326,
"cds_start": 1090,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891246.1",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.1090_1092delTGTinsGGG",
"hgvs_p": "p.Cys364Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561305.1",
"strand": true,
"transcript": "ENST00000891246.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 432,
"aa_ref": "C",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2376,
"cdna_start": 1117,
"cds_end": null,
"cds_length": 1299,
"cds_start": 1063,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891245.1",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.1063_1065delTGTinsGGG",
"hgvs_p": "p.Cys355Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561304.1",
"strand": true,
"transcript": "ENST00000891245.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 431,
"aa_ref": "C",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3048,
"cdna_start": 1140,
"cds_end": null,
"cds_length": 1296,
"cds_start": 1060,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891239.1",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.1060_1062delTGTinsGGG",
"hgvs_p": "p.Cys354Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561298.1",
"strand": true,
"transcript": "ENST00000891239.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 428,
"aa_ref": "C",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1434,
"cdna_start": 1060,
"cds_end": null,
"cds_length": 1287,
"cds_start": 1051,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891258.1",
"gene_hgnc_id": 3544,
"gene_symbol": "F7",
"hgvs_c": "c.1051_1053delTGTinsGGG",
"hgvs_p": "p.Cys351Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561317.1",
"strand": true,
"transcript": "ENST00000891258.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 418,
"aa_ref": "C",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2309,
"cdna_start": 1072,
"cds_end": null,
"cds_length": 1257,
"cds_start": 1021,
"consequences": [
"missense_variant"
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