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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: 11-117289710-GGT-AGC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=117289710&ref=GGT&alt=AGC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BACE1",
"hgnc_id": 933,
"hgvs_c": "c.1360_1362delACCinsGCT",
"hgvs_p": "p.Thr454Ala",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_012104.6",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "BACE1-AS",
"hgnc_id": 37125,
"hgvs_c": "n.1258_1260delGGTinsAGC",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 1,
"score": 1,
"transcript": "ENST00000649580.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AGC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "11",
"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": "A",
"aa_end": null,
"aa_length": 501,
"aa_ref": "T",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5835,
"cdna_start": 1823,
"cds_end": null,
"cds_length": 1506,
"cds_start": 1360,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_012104.6",
"gene_hgnc_id": 933,
"gene_symbol": "BACE1",
"hgvs_c": "c.1360_1362delACCinsGCT",
"hgvs_p": "p.Thr454Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000313005.11",
"protein_coding": true,
"protein_id": "NP_036236.1",
"strand": false,
"transcript": "NM_012104.6",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 501,
"aa_ref": "T",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5835,
"cdna_start": 1823,
"cds_end": null,
"cds_length": 1506,
"cds_start": 1360,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000313005.11",
"gene_hgnc_id": 933,
"gene_symbol": "BACE1",
"hgvs_c": "c.1360_1362delACCinsGCT",
"hgvs_p": "p.Thr454Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012104.6",
"protein_coding": true,
"protein_id": "ENSP00000318585.6",
"strand": false,
"transcript": "ENST00000313005.11",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 476,
"aa_ref": "T",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1465,
"cdna_start": 1290,
"cds_end": null,
"cds_length": 1431,
"cds_start": 1285,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000513780.5",
"gene_hgnc_id": 933,
"gene_symbol": "BACE1",
"hgvs_c": "c.1285_1287delACCinsGCT",
"hgvs_p": "p.Thr429Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424536.1",
"strand": false,
"transcript": "ENST00000513780.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 457,
"aa_ref": "T",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1408,
"cdna_start": 1233,
"cds_end": null,
"cds_length": 1374,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000445823.6",
"gene_hgnc_id": 933,
"gene_symbol": "BACE1",
"hgvs_c": "c.1228_1230delACCinsGCT",
"hgvs_p": "p.Thr410Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000403685.2",
"strand": false,
"transcript": "ENST00000445823.6",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 432,
"aa_ref": "T",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1333,
"cdna_start": 1158,
"cds_end": null,
"cds_length": 1299,
"cds_start": 1153,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000428381.6",
"gene_hgnc_id": 933,
"gene_symbol": "BACE1",
"hgvs_c": "c.1153_1155delACCinsGCT",
"hgvs_p": "p.Thr385Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402228.2",
"strand": false,
"transcript": "ENST00000428381.6",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 401,
"aa_ref": "T",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5155,
"cdna_start": 1151,
"cds_end": null,
"cds_length": 1206,
"cds_start": 1060,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000392937.10",
"gene_hgnc_id": 933,
"gene_symbol": "BACE1",
"hgvs_c": "c.1060_1062delACCinsGCT",
"hgvs_p": "p.Thr354Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000475405.1",
"strand": false,
"transcript": "ENST00000392937.10",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 476,
"aa_ref": "T",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5760,
"cdna_start": 1748,
"cds_end": null,
"cds_length": 1431,
"cds_start": 1285,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_138972.4",
"gene_hgnc_id": 933,
"gene_symbol": "BACE1",
"hgvs_c": "c.1285_1287delACCinsGCT",
"hgvs_p": "p.Thr429Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_620428.1",
"strand": false,
"transcript": "NM_138972.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 467,
"aa_ref": "T",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4083,
"cdna_start": 1724,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000528053.5",
"gene_hgnc_id": 933,
"gene_symbol": "BACE1",
"hgvs_c": "c.1258_1260delACCinsGCT",
"hgvs_p": "p.Thr420Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431848.1",
"strand": false,
"transcript": "ENST00000528053.5",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 457,
"aa_ref": "T",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5703,
"cdna_start": 1691,
"cds_end": null,
"cds_length": 1374,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_138971.4",
"gene_hgnc_id": 933,
"gene_symbol": "BACE1",
"hgvs_c": "c.1228_1230delACCinsGCT",
"hgvs_p": "p.Thr410Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_620427.1",
"strand": false,
"transcript": "NM_138971.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 456,
"aa_ref": "T",
"aa_start": 409,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3341,
"cdna_start": 1447,
"cds_end": null,
"cds_length": 1371,
"cds_start": 1225,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000927849.1",
"gene_hgnc_id": 933,
"gene_symbol": "BACE1",
"hgvs_c": "c.1225_1227delACCinsGCT",
"hgvs_p": "p.Thr409Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597908.1",
"strand": false,
"transcript": "ENST00000927849.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 455,
"aa_ref": "T",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3610,
"cdna_start": 1715,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1222,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896512.1",
"gene_hgnc_id": 933,
"gene_symbol": "BACE1",
"hgvs_c": "c.1222_1224delACCinsGCT",
"hgvs_p": "p.Thr408Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566571.1",
"strand": false,
"transcript": "ENST00000896512.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 432,
"aa_ref": "T",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5628,
"cdna_start": 1616,
"cds_end": null,
"cds_length": 1299,
"cds_start": 1153,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_138973.4",
"gene_hgnc_id": 933,
"gene_symbol": "BACE1",
"hgvs_c": "c.1153_1155delACCinsGCT",
"hgvs_p": "p.Thr385Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_620429.1",
"strand": false,
"transcript": "NM_138973.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 401,
"aa_ref": "T",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5100,
"cdna_start": 1088,
"cds_end": null,
"cds_length": 1206,
"cds_start": 1060,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001207048.3",
"gene_hgnc_id": 933,
"gene_symbol": "BACE1",
"hgvs_c": "c.1060_1062delACCinsGCT",
"hgvs_p": "p.Thr354Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001193977.1",
"strand": false,
"transcript": "NM_001207048.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 376,
"aa_ref": "T",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5025,
"cdna_start": 1013,
"cds_end": null,
"cds_length": 1131,
"cds_start": 985,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001207049.3",
"gene_hgnc_id": 933,
"gene_symbol": "BACE1",
"hgvs_c": "c.985_987delACCinsGCT",
"hgvs_p": "p.Thr329Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001193978.1",
"strand": false,
"transcript": "NM_001207049.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 376,
"aa_ref": "T",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1236,
"cdna_start": 1013,
"cds_end": null,
"cds_length": 1131,
"cds_start": 985,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000510630.5",
"gene_hgnc_id": 933,
"gene_symbol": "BACE1",
"hgvs_c": "c.985_987delACCinsGCT",
"hgvs_p": "p.Thr329Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422461.1",
"strand": false,
"transcript": "ENST00000510630.5",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 267,
"aa_ref": "T",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5188,
"cdna_start": 1176,
"cds_end": null,
"cds_length": 804,
"cds_start": 658,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001411039.1",
"gene_hgnc_id": 933,
"gene_symbol": "BACE1",
"hgvs_c": "c.658_660delACCinsGCT",
"hgvs_p": "p.Thr220Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397968.1",
"strand": false,
"transcript": "NM_001411039.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 267,
"aa_ref": "T",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5546,
"cdna_start": 1068,
"cds_end": null,
"cds_length": 804,
"cds_start": 658,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000680971.1",
"gene_hgnc_id": 933,
"gene_symbol": "BACE1",
"hgvs_c": "c.658_660delACCinsGCT",
"hgvs_p": "p.Thr220Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506107.1",
"strand": false,
"transcript": "ENST00000680971.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 351,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2248,
"cdna_start": null,
"cds_end": null,
"cds_length": 1056,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000510915.6",
"gene_hgnc_id": 933,
"gene_symbol": "BACE1",
"hgvs_c": "c.*684_*686delACCinsGCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000475171.2",
"strand": false,
"transcript": "ENST00000510915.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 333,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3455,
"cdna_start": null,
"cds_end": null,
"cds_length": 1002,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000680681.1",
"gene_hgnc_id": 933,
"gene_symbol": "BACE1",
"hgvs_c": "c.*86_*88delACCinsGCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505419.1",
"strand": false,
"transcript": "ENST00000680681.1",
"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": 1349,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000514464.2",
"gene_hgnc_id": 933,
"gene_symbol": "BACE1",
"hgvs_c": "n.*788_*790delACCinsGCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505118.1",
"strand": false,
"transcript": "ENST00000514464.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
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