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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: 11-117289699-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=117289699&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BACE1",
"hgnc_id": 933,
"hgvs_c": "c.1373T>C",
"hgvs_p": "p.Ile458Thr",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_012104.6",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "BACE1-AS",
"hgnc_id": 37125,
"hgvs_c": "n.1247A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000649580.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 76,
"alphamissense_prediction": null,
"alphamissense_score": 0.6705,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.12,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.18803909420967102,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 501,
"aa_ref": "I",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5835,
"cdna_start": 1834,
"cds_end": null,
"cds_length": 1506,
"cds_start": 1373,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_012104.6",
"gene_hgnc_id": 933,
"gene_symbol": "BACE1",
"hgvs_c": "c.1373T>C",
"hgvs_p": "p.Ile458Thr",
"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": "T",
"aa_end": null,
"aa_length": 501,
"aa_ref": "I",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5835,
"cdna_start": 1834,
"cds_end": null,
"cds_length": 1506,
"cds_start": 1373,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000313005.11",
"gene_hgnc_id": 933,
"gene_symbol": "BACE1",
"hgvs_c": "c.1373T>C",
"hgvs_p": "p.Ile458Thr",
"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": "T",
"aa_end": null,
"aa_length": 476,
"aa_ref": "I",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1465,
"cdna_start": 1301,
"cds_end": null,
"cds_length": 1431,
"cds_start": 1298,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000513780.5",
"gene_hgnc_id": 933,
"gene_symbol": "BACE1",
"hgvs_c": "c.1298T>C",
"hgvs_p": "p.Ile433Thr",
"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": "T",
"aa_end": null,
"aa_length": 457,
"aa_ref": "I",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1408,
"cdna_start": 1244,
"cds_end": null,
"cds_length": 1374,
"cds_start": 1241,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000445823.6",
"gene_hgnc_id": 933,
"gene_symbol": "BACE1",
"hgvs_c": "c.1241T>C",
"hgvs_p": "p.Ile414Thr",
"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": "T",
"aa_end": null,
"aa_length": 432,
"aa_ref": "I",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1333,
"cdna_start": 1169,
"cds_end": null,
"cds_length": 1299,
"cds_start": 1166,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000428381.6",
"gene_hgnc_id": 933,
"gene_symbol": "BACE1",
"hgvs_c": "c.1166T>C",
"hgvs_p": "p.Ile389Thr",
"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": "T",
"aa_end": null,
"aa_length": 401,
"aa_ref": "I",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5155,
"cdna_start": 1162,
"cds_end": null,
"cds_length": 1206,
"cds_start": 1073,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000392937.10",
"gene_hgnc_id": 933,
"gene_symbol": "BACE1",
"hgvs_c": "c.1073T>C",
"hgvs_p": "p.Ile358Thr",
"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": "T",
"aa_end": null,
"aa_length": 476,
"aa_ref": "I",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5760,
"cdna_start": 1759,
"cds_end": null,
"cds_length": 1431,
"cds_start": 1298,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_138972.4",
"gene_hgnc_id": 933,
"gene_symbol": "BACE1",
"hgvs_c": "c.1298T>C",
"hgvs_p": "p.Ile433Thr",
"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": "T",
"aa_end": null,
"aa_length": 467,
"aa_ref": "I",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4083,
"cdna_start": 1735,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1271,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000528053.5",
"gene_hgnc_id": 933,
"gene_symbol": "BACE1",
"hgvs_c": "c.1271T>C",
"hgvs_p": "p.Ile424Thr",
"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": "T",
"aa_end": null,
"aa_length": 457,
"aa_ref": "I",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5703,
"cdna_start": 1702,
"cds_end": null,
"cds_length": 1374,
"cds_start": 1241,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_138971.4",
"gene_hgnc_id": 933,
"gene_symbol": "BACE1",
"hgvs_c": "c.1241T>C",
"hgvs_p": "p.Ile414Thr",
"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": "T",
"aa_end": null,
"aa_length": 456,
"aa_ref": "I",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3341,
"cdna_start": 1458,
"cds_end": null,
"cds_length": 1371,
"cds_start": 1238,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000927849.1",
"gene_hgnc_id": 933,
"gene_symbol": "BACE1",
"hgvs_c": "c.1238T>C",
"hgvs_p": "p.Ile413Thr",
"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": "T",
"aa_end": null,
"aa_length": 455,
"aa_ref": "I",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3610,
"cdna_start": 1726,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1235,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000896512.1",
"gene_hgnc_id": 933,
"gene_symbol": "BACE1",
"hgvs_c": "c.1235T>C",
"hgvs_p": "p.Ile412Thr",
"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": "T",
"aa_end": null,
"aa_length": 432,
"aa_ref": "I",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5628,
"cdna_start": 1627,
"cds_end": null,
"cds_length": 1299,
"cds_start": 1166,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_138973.4",
"gene_hgnc_id": 933,
"gene_symbol": "BACE1",
"hgvs_c": "c.1166T>C",
"hgvs_p": "p.Ile389Thr",
"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": "T",
"aa_end": null,
"aa_length": 401,
"aa_ref": "I",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5100,
"cdna_start": 1099,
"cds_end": null,
"cds_length": 1206,
"cds_start": 1073,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001207048.3",
"gene_hgnc_id": 933,
"gene_symbol": "BACE1",
"hgvs_c": "c.1073T>C",
"hgvs_p": "p.Ile358Thr",
"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": "T",
"aa_end": null,
"aa_length": 376,
"aa_ref": "I",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5025,
"cdna_start": 1024,
"cds_end": null,
"cds_length": 1131,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001207049.3",
"gene_hgnc_id": 933,
"gene_symbol": "BACE1",
"hgvs_c": "c.998T>C",
"hgvs_p": "p.Ile333Thr",
"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": "T",
"aa_end": null,
"aa_length": 376,
"aa_ref": "I",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1236,
"cdna_start": 1024,
"cds_end": null,
"cds_length": 1131,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000510630.5",
"gene_hgnc_id": 933,
"gene_symbol": "BACE1",
"hgvs_c": "c.998T>C",
"hgvs_p": "p.Ile333Thr",
"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": "T",
"aa_end": null,
"aa_length": 267,
"aa_ref": "I",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5188,
"cdna_start": 1187,
"cds_end": null,
"cds_length": 804,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001411039.1",
"gene_hgnc_id": 933,
"gene_symbol": "BACE1",
"hgvs_c": "c.671T>C",
"hgvs_p": "p.Ile224Thr",
"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": "T",
"aa_end": null,
"aa_length": 267,
"aa_ref": "I",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5546,
"cdna_start": 1079,
"cds_end": null,
"cds_length": 804,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000680971.1",
"gene_hgnc_id": 933,
"gene_symbol": "BACE1",
"hgvs_c": "c.671T>C",
"hgvs_p": "p.Ile224Thr",
"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.*697T>C",
"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.*99T>C",
"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.*801T>C",
"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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}