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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: 1-8863252-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=8863252&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ENO1",
"hgnc_id": 3350,
"hgvs_c": "c.1159G>C",
"hgvs_p": "p.Gly387Arg",
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_001428.5",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.998,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.2,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9804259538650513,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 434,
"aa_ref": "G",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1781,
"cdna_start": 1275,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1159,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001428.5",
"gene_hgnc_id": 3350,
"gene_symbol": "ENO1",
"hgvs_c": "c.1159G>C",
"hgvs_p": "p.Gly387Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000234590.10",
"protein_coding": true,
"protein_id": "NP_001419.1",
"strand": false,
"transcript": "NM_001428.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 434,
"aa_ref": "G",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1781,
"cdna_start": 1275,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1159,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000234590.10",
"gene_hgnc_id": 3350,
"gene_symbol": "ENO1",
"hgvs_c": "c.1159G>C",
"hgvs_p": "p.Gly387Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001428.5",
"protein_coding": true,
"protein_id": "ENSP00000234590.4",
"strand": false,
"transcript": "ENST00000234590.10",
"transcript_support_level": 1
},
{
"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": 2548,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000464920.2",
"gene_hgnc_id": 3350,
"gene_symbol": "ENO1",
"hgvs_c": "n.2044G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000464920.2",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 444,
"aa_ref": "G",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1832,
"cdna_start": 1331,
"cds_end": null,
"cds_length": 1335,
"cds_start": 1189,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000879697.1",
"gene_hgnc_id": 3350,
"gene_symbol": "ENO1",
"hgvs_c": "c.1189G>C",
"hgvs_p": "p.Gly397Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549756.1",
"strand": false,
"transcript": "ENST00000879697.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 442,
"aa_ref": "G",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1801,
"cdna_start": 1303,
"cds_end": null,
"cds_length": 1329,
"cds_start": 1189,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000935305.1",
"gene_hgnc_id": 3350,
"gene_symbol": "ENO1",
"hgvs_c": "c.1189G>C",
"hgvs_p": "p.Gly397Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605364.1",
"strand": false,
"transcript": "ENST00000935305.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 434,
"aa_ref": "G",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1781,
"cdna_start": 1275,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1159,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001353346.3",
"gene_hgnc_id": 3350,
"gene_symbol": "ENO1",
"hgvs_c": "c.1159G>C",
"hgvs_p": "p.Gly387Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340275.1",
"strand": false,
"transcript": "NM_001353346.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 434,
"aa_ref": "G",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1782,
"cdna_start": 1278,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1159,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000647408.1",
"gene_hgnc_id": 3350,
"gene_symbol": "ENO1",
"hgvs_c": "c.1159G>C",
"hgvs_p": "p.Gly387Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495530.1",
"strand": false,
"transcript": "ENST00000647408.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 434,
"aa_ref": "G",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1905,
"cdna_start": 1406,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1159,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000879694.1",
"gene_hgnc_id": 3350,
"gene_symbol": "ENO1",
"hgvs_c": "c.1159G>C",
"hgvs_p": "p.Gly387Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549753.1",
"strand": false,
"transcript": "ENST00000879694.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 434,
"aa_ref": "G",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1812,
"cdna_start": 1306,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1159,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000879696.1",
"gene_hgnc_id": 3350,
"gene_symbol": "ENO1",
"hgvs_c": "c.1159G>C",
"hgvs_p": "p.Gly387Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549755.1",
"strand": false,
"transcript": "ENST00000879696.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 434,
"aa_ref": "G",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1782,
"cdna_start": 1278,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1159,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000879698.1",
"gene_hgnc_id": 3350,
"gene_symbol": "ENO1",
"hgvs_c": "c.1159G>C",
"hgvs_p": "p.Gly387Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549757.1",
"strand": false,
"transcript": "ENST00000879698.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 434,
"aa_ref": "G",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2223,
"cdna_start": 1722,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1159,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000879700.1",
"gene_hgnc_id": 3350,
"gene_symbol": "ENO1",
"hgvs_c": "c.1159G>C",
"hgvs_p": "p.Gly387Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549759.1",
"strand": false,
"transcript": "ENST00000879700.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 434,
"aa_ref": "G",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1931,
"cdna_start": 1432,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1159,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000879703.1",
"gene_hgnc_id": 3350,
"gene_symbol": "ENO1",
"hgvs_c": "c.1159G>C",
"hgvs_p": "p.Gly387Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549762.1",
"strand": false,
"transcript": "ENST00000879703.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 434,
"aa_ref": "G",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1929,
"cdna_start": 1425,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1159,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000879704.1",
"gene_hgnc_id": 3350,
"gene_symbol": "ENO1",
"hgvs_c": "c.1159G>C",
"hgvs_p": "p.Gly387Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549763.1",
"strand": false,
"transcript": "ENST00000879704.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 434,
"aa_ref": "G",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2010,
"cdna_start": 1506,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1159,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000879705.1",
"gene_hgnc_id": 3350,
"gene_symbol": "ENO1",
"hgvs_c": "c.1159G>C",
"hgvs_p": "p.Gly387Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549764.1",
"strand": false,
"transcript": "ENST00000879705.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 434,
"aa_ref": "G",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1733,
"cdna_start": 1229,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1159,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000879706.1",
"gene_hgnc_id": 3350,
"gene_symbol": "ENO1",
"hgvs_c": "c.1159G>C",
"hgvs_p": "p.Gly387Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549765.1",
"strand": false,
"transcript": "ENST00000879706.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 434,
"aa_ref": "G",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1782,
"cdna_start": 1281,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1159,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000879707.1",
"gene_hgnc_id": 3350,
"gene_symbol": "ENO1",
"hgvs_c": "c.1159G>C",
"hgvs_p": "p.Gly387Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549766.1",
"strand": false,
"transcript": "ENST00000879707.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 434,
"aa_ref": "G",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1917,
"cdna_start": 1413,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1159,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000935295.1",
"gene_hgnc_id": 3350,
"gene_symbol": "ENO1",
"hgvs_c": "c.1159G>C",
"hgvs_p": "p.Gly387Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605354.1",
"strand": false,
"transcript": "ENST00000935295.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 434,
"aa_ref": "G",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1813,
"cdna_start": 1315,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1159,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000935306.1",
"gene_hgnc_id": 3350,
"gene_symbol": "ENO1",
"hgvs_c": "c.1159G>C",
"hgvs_p": "p.Gly387Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605365.1",
"strand": false,
"transcript": "ENST00000935306.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 434,
"aa_ref": "G",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1791,
"cdna_start": 1287,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1159,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000935307.1",
"gene_hgnc_id": 3350,
"gene_symbol": "ENO1",
"hgvs_c": "c.1159G>C",
"hgvs_p": "p.Gly387Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605366.1",
"strand": false,
"transcript": "ENST00000935307.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 434,
"aa_ref": "G",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2085,
"cdna_start": 1584,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1159,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000971792.1",
"gene_hgnc_id": 3350,
"gene_symbol": "ENO1",
"hgvs_c": "c.1159G>C",
"hgvs_p": "p.Gly387Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641851.1",
"strand": false,
"transcript": "ENST00000971792.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 434,
"aa_ref": "G",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1997,
"cdna_start": 1497,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1159,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000971795.1",
"gene_hgnc_id": 3350,
"gene_symbol": "ENO1",
"hgvs_c": "c.1159G>C",
"hgvs_p": "p.Gly387Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641854.1",
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}