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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: 1-109753152-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=109753152&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EPS8L3",
"hgnc_id": 21297,
"hgvs_c": "c.1168T>C",
"hgvs_p": "p.Ser390Pro",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_139053.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "GSTM5",
"hgnc_id": 4637,
"hgvs_c": "n.83-21920A>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000429410.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000241720",
"hgnc_id": null,
"hgvs_c": "n.627+16011A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000431955.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.2007,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3076223134994507,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 593,
"aa_ref": "S",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2219,
"cdna_start": 1291,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_133181.4",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1165T>C",
"hgvs_p": "p.Ser389Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000361965.9",
"protein_coding": true,
"protein_id": "NP_573444.2",
"strand": false,
"transcript": "NM_133181.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 593,
"aa_ref": "S",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2219,
"cdna_start": 1291,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000361965.9",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1165T>C",
"hgvs_p": "p.Ser389Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_133181.4",
"protein_coding": true,
"protein_id": "ENSP00000355255.4",
"strand": false,
"transcript": "ENST00000361965.9",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 594,
"aa_ref": "S",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2325,
"cdna_start": 1398,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000369805.7",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1168T>C",
"hgvs_p": "p.Ser390Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358820.3",
"strand": false,
"transcript": "ENST00000369805.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 563,
"aa_ref": "S",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2130,
"cdna_start": 1292,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000361852.8",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1165T>C",
"hgvs_p": "p.Ser389Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354551.4",
"strand": false,
"transcript": "ENST00000361852.8",
"transcript_support_level": 1
},
{
"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": 1806,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000472325.5",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "n.*1134T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000483789.1",
"strand": false,
"transcript": "ENST00000472325.5",
"transcript_support_level": 1
},
{
"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": 1806,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000472325.5",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "n.*1134T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000483789.1",
"strand": false,
"transcript": "ENST00000472325.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 675,
"aa_ref": "S",
"aa_start": 471,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2462,
"cdna_start": 1534,
"cds_end": null,
"cds_length": 2028,
"cds_start": 1411,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000888981.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1411T>C",
"hgvs_p": "p.Ser471Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559040.1",
"strand": false,
"transcript": "ENST00000888981.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 674,
"aa_ref": "S",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2462,
"cdna_start": 1534,
"cds_end": null,
"cds_length": 2025,
"cds_start": 1408,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000888977.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1408T>C",
"hgvs_p": "p.Ser470Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559036.1",
"strand": false,
"transcript": "ENST00000888977.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 673,
"aa_ref": "S",
"aa_start": 469,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2426,
"cdna_start": 1496,
"cds_end": null,
"cds_length": 2022,
"cds_start": 1405,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000888985.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1405T>C",
"hgvs_p": "p.Ser469Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559044.1",
"strand": false,
"transcript": "ENST00000888985.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 645,
"aa_ref": "S",
"aa_start": 471,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2378,
"cdna_start": 1541,
"cds_end": null,
"cds_length": 1938,
"cds_start": 1411,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000888976.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1411T>C",
"hgvs_p": "p.Ser471Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559035.1",
"strand": false,
"transcript": "ENST00000888976.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 644,
"aa_ref": "S",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2368,
"cdna_start": 1531,
"cds_end": null,
"cds_length": 1935,
"cds_start": 1408,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000888982.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1408T>C",
"hgvs_p": "p.Ser470Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559041.1",
"strand": false,
"transcript": "ENST00000888982.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 602,
"aa_ref": "S",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2242,
"cdna_start": 1315,
"cds_end": null,
"cds_length": 1809,
"cds_start": 1192,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000888983.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1192T>C",
"hgvs_p": "p.Ser398Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559042.1",
"strand": false,
"transcript": "ENST00000888983.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 601,
"aa_ref": "S",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2242,
"cdna_start": 1312,
"cds_end": null,
"cds_length": 1806,
"cds_start": 1189,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000888978.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1189T>C",
"hgvs_p": "p.Ser397Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559037.1",
"strand": false,
"transcript": "ENST00000888978.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 594,
"aa_ref": "S",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2222,
"cdna_start": 1294,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_139053.3",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1168T>C",
"hgvs_p": "p.Ser390Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_620641.1",
"strand": false,
"transcript": "NM_139053.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 593,
"aa_ref": "S",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2216,
"cdna_start": 1288,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000888980.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1165T>C",
"hgvs_p": "p.Ser389Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559039.1",
"strand": false,
"transcript": "ENST00000888980.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 592,
"aa_ref": "S",
"aa_start": 388,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2247,
"cdna_start": 1319,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1162,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000888974.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1162T>C",
"hgvs_p": "p.Ser388Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559033.1",
"strand": false,
"transcript": "ENST00000888974.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 579,
"aa_ref": "S",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2193,
"cdna_start": 1311,
"cds_end": null,
"cds_length": 1740,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000888975.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1168T>C",
"hgvs_p": "p.Ser390Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559034.1",
"strand": false,
"transcript": "ENST00000888975.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 564,
"aa_ref": "S",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2273,
"cdna_start": 1433,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000888973.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1168T>C",
"hgvs_p": "p.Ser390Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559032.1",
"strand": false,
"transcript": "ENST00000888973.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 563,
"aa_ref": "S",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2129,
"cdna_start": 1291,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_024526.4",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1165T>C",
"hgvs_p": "p.Ser389Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_078802.2",
"strand": false,
"transcript": "NM_024526.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 562,
"aa_ref": "S",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2125,
"cdna_start": 1198,
"cds_end": null,
"cds_length": 1689,
"cds_start": 1072,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000888979.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1072T>C",
"hgvs_p": "p.Ser358Pro",
"intron_rank": null,
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