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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: 17-42818868-GG-AA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=42818868&ref=GG&alt=AA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BECN1",
"hgnc_id": 1034,
"hgvs_c": "c.269_270delCCinsTT",
"hgvs_p": "p.Ser90Phe",
"inheritance_mode": "AD",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_003766.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PP3",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"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": "F",
"aa_end": null,
"aa_length": 450,
"aa_ref": "S",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2109,
"cdna_start": 400,
"cds_end": null,
"cds_length": 1353,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001313998.2",
"gene_hgnc_id": 1034,
"gene_symbol": "BECN1",
"hgvs_c": "c.269_270delCCinsTT",
"hgvs_p": "p.Ser90Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000590099.6",
"protein_coding": true,
"protein_id": "NP_001300927.1",
"strand": false,
"transcript": "NM_001313998.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 450,
"aa_ref": "S",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2109,
"cdna_start": 400,
"cds_end": null,
"cds_length": 1353,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000590099.6",
"gene_hgnc_id": 1034,
"gene_symbol": "BECN1",
"hgvs_c": "c.269_270delCCinsTT",
"hgvs_p": "p.Ser90Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001313998.2",
"protein_coding": true,
"protein_id": "ENSP00000465364.1",
"strand": false,
"transcript": "ENST00000590099.6",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 450,
"aa_ref": "S",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2112,
"cdna_start": 403,
"cds_end": null,
"cds_length": 1353,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361523.8",
"gene_hgnc_id": 1034,
"gene_symbol": "BECN1",
"hgvs_c": "c.269_270delCCinsTT",
"hgvs_p": "p.Ser90Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355231.3",
"strand": false,
"transcript": "ENST00000361523.8",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 496,
"aa_ref": "S",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2238,
"cdna_start": 538,
"cds_end": null,
"cds_length": 1491,
"cds_start": 407,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893295.1",
"gene_hgnc_id": 1034,
"gene_symbol": "BECN1",
"hgvs_c": "c.407_408delCCinsTT",
"hgvs_p": "p.Ser136Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563354.1",
"strand": false,
"transcript": "ENST00000893295.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 481,
"aa_ref": "S",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2487,
"cdna_start": 514,
"cds_end": null,
"cds_length": 1446,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893287.1",
"gene_hgnc_id": 1034,
"gene_symbol": "BECN1",
"hgvs_c": "c.362_363delCCinsTT",
"hgvs_p": "p.Ser121Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563346.1",
"strand": false,
"transcript": "ENST00000893287.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 473,
"aa_ref": "S",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2200,
"cdna_start": 490,
"cds_end": null,
"cds_length": 1422,
"cds_start": 338,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893289.1",
"gene_hgnc_id": 1034,
"gene_symbol": "BECN1",
"hgvs_c": "c.338_339delCCinsTT",
"hgvs_p": "p.Ser113Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563348.1",
"strand": false,
"transcript": "ENST00000893289.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 463,
"aa_ref": "S",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2167,
"cdna_start": 422,
"cds_end": null,
"cds_length": 1392,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893292.1",
"gene_hgnc_id": 1034,
"gene_symbol": "BECN1",
"hgvs_c": "c.269_270delCCinsTT",
"hgvs_p": "p.Ser90Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563351.1",
"strand": false,
"transcript": "ENST00000893292.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 450,
"aa_ref": "S",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2131,
"cdna_start": 422,
"cds_end": null,
"cds_length": 1353,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003766.5",
"gene_hgnc_id": 1034,
"gene_symbol": "BECN1",
"hgvs_c": "c.269_270delCCinsTT",
"hgvs_p": "p.Ser90Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003757.1",
"strand": false,
"transcript": "NM_003766.5",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 450,
"aa_ref": "S",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2404,
"cdna_start": 685,
"cds_end": null,
"cds_length": 1353,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893288.1",
"gene_hgnc_id": 1034,
"gene_symbol": "BECN1",
"hgvs_c": "c.269_270delCCinsTT",
"hgvs_p": "p.Ser90Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563347.1",
"strand": false,
"transcript": "ENST00000893288.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 450,
"aa_ref": "S",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2185,
"cdna_start": 476,
"cds_end": null,
"cds_length": 1353,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000967385.1",
"gene_hgnc_id": 1034,
"gene_symbol": "BECN1",
"hgvs_c": "c.269_270delCCinsTT",
"hgvs_p": "p.Ser90Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637444.1",
"strand": false,
"transcript": "ENST00000967385.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 450,
"aa_ref": "S",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2036,
"cdna_start": 328,
"cds_end": null,
"cds_length": 1353,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000967386.1",
"gene_hgnc_id": 1034,
"gene_symbol": "BECN1",
"hgvs_c": "c.269_270delCCinsTT",
"hgvs_p": "p.Ser90Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637445.1",
"strand": false,
"transcript": "ENST00000967386.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 449,
"aa_ref": "S",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2124,
"cdna_start": 415,
"cds_end": null,
"cds_length": 1350,
"cds_start": 266,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893293.1",
"gene_hgnc_id": 1034,
"gene_symbol": "BECN1",
"hgvs_c": "c.266_267delCCinsTT",
"hgvs_p": "p.Ser89Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563352.1",
"strand": false,
"transcript": "ENST00000893293.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 447,
"aa_ref": "S",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2121,
"cdna_start": 421,
"cds_end": null,
"cds_length": 1344,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000967388.1",
"gene_hgnc_id": 1034,
"gene_symbol": "BECN1",
"hgvs_c": "c.269_270delCCinsTT",
"hgvs_p": "p.Ser90Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637447.1",
"strand": false,
"transcript": "ENST00000967388.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 438,
"aa_ref": "S",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2095,
"cdna_start": 422,
"cds_end": null,
"cds_length": 1317,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893290.1",
"gene_hgnc_id": 1034,
"gene_symbol": "BECN1",
"hgvs_c": "c.269_270delCCinsTT",
"hgvs_p": "p.Ser90Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563349.1",
"strand": false,
"transcript": "ENST00000893290.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 435,
"aa_ref": "S",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1579,
"cdna_start": 418,
"cds_end": null,
"cds_length": 1308,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000967391.1",
"gene_hgnc_id": 1034,
"gene_symbol": "BECN1",
"hgvs_c": "c.269_270delCCinsTT",
"hgvs_p": "p.Ser90Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637450.1",
"strand": false,
"transcript": "ENST00000967391.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 401,
"aa_ref": "S",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1982,
"cdna_start": 421,
"cds_end": null,
"cds_length": 1206,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893291.1",
"gene_hgnc_id": 1034,
"gene_symbol": "BECN1",
"hgvs_c": "c.269_270delCCinsTT",
"hgvs_p": "p.Ser90Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563350.1",
"strand": false,
"transcript": "ENST00000893291.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 374,
"aa_ref": "S",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1895,
"cdna_start": 421,
"cds_end": null,
"cds_length": 1125,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000967389.1",
"gene_hgnc_id": 1034,
"gene_symbol": "BECN1",
"hgvs_c": "c.269_270delCCinsTT",
"hgvs_p": "p.Ser90Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637448.1",
"strand": false,
"transcript": "ENST00000967389.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 355,
"aa_ref": "S",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1840,
"cdna_start": 272,
"cds_end": null,
"cds_length": 1068,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001313999.1",
"gene_hgnc_id": 1034,
"gene_symbol": "BECN1",
"hgvs_c": "c.269_270delCCinsTT",
"hgvs_p": "p.Ser90Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001300928.1",
"strand": false,
"transcript": "NM_001313999.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 332,
"aa_ref": "S",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1784,
"cdna_start": 429,
"cds_end": null,
"cds_length": 999,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922825.1",
"gene_hgnc_id": 1034,
"gene_symbol": "BECN1",
"hgvs_c": "c.269_270delCCinsTT",
"hgvs_p": "p.Ser90Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592884.1",
"strand": false,
"transcript": "ENST00000922825.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 382,
"aa_ref": "S",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1907,
"cdna_start": 400,
"cds_end": null,
"cds_length": 1149,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005257759.4",
"gene_hgnc_id": 1034,
"gene_symbol": "BECN1",
"hgvs_c": "c.269_270delCCinsTT",
"hgvs_p": "p.Ser90Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005257816.1",
"strand": false,
"transcript": "XM_005257759.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 382,
"aa_ref": "S",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1929,
"cdna_start": 422,
"cds_end": null,
"cds_length": 1149,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017025263.3",
"gene_hgnc_id": 1034,
"gene_symbol": "BECN1",
"hgvs_c": "c.269_270delCCinsTT",
"hgvs_p": "p.Ser90Phe",
"intron_rank": null,
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