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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: 7-15365563-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=15365563&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 16,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AGMO",
"hgnc_id": 33784,
"hgvs_c": "c.1214G>A",
"hgvs_p": "p.Arg405Gln",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -16,
"transcript": "NM_001004320.2",
"verdict": "Benign"
},
{
"benign_score": 16,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000309517",
"hgnc_id": null,
"hgvs_c": "n.279-588C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -16,
"transcript": "ENST00000841820.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_score": -16,
"allele_count_reference_population": 606,
"alphamissense_prediction": null,
"alphamissense_score": 0.0932,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.5,
"chr": "7",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0037632882595062256,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 445,
"aa_ref": "R",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2476,
"cdna_start": 1384,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1214,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001004320.2",
"gene_hgnc_id": 33784,
"gene_symbol": "AGMO",
"hgvs_c": "c.1214G>A",
"hgvs_p": "p.Arg405Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000342526.8",
"protein_coding": true,
"protein_id": "NP_001004320.1",
"strand": false,
"transcript": "NM_001004320.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 445,
"aa_ref": "R",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2476,
"cdna_start": 1384,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1214,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000342526.8",
"gene_hgnc_id": 33784,
"gene_symbol": "AGMO",
"hgvs_c": "c.1214G>A",
"hgvs_p": "p.Arg405Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001004320.2",
"protein_coding": true,
"protein_id": "ENSP00000341662.3",
"strand": false,
"transcript": "ENST00000342526.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 441,
"aa_ref": "R",
"aa_start": 401,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1627,
"cdna_start": 1364,
"cds_end": null,
"cds_length": 1326,
"cds_start": 1202,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000859218.1",
"gene_hgnc_id": 33784,
"gene_symbol": "AGMO",
"hgvs_c": "c.1202G>A",
"hgvs_p": "p.Arg401Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529277.1",
"strand": false,
"transcript": "ENST00000859218.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 423,
"aa_ref": "R",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2054,
"cdna_start": 1320,
"cds_end": null,
"cds_length": 1272,
"cds_start": 1148,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000859216.1",
"gene_hgnc_id": 33784,
"gene_symbol": "AGMO",
"hgvs_c": "c.1148G>A",
"hgvs_p": "p.Arg383Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529275.1",
"strand": false,
"transcript": "ENST00000859216.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 419,
"aa_ref": "R",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1561,
"cdna_start": 1298,
"cds_end": null,
"cds_length": 1260,
"cds_start": 1136,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000859217.1",
"gene_hgnc_id": 33784,
"gene_symbol": "AGMO",
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529276.1",
"strand": false,
"transcript": "ENST00000859217.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 400,
"aa_ref": "R",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1492,
"cdna_start": 1233,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1079,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000859219.1",
"gene_hgnc_id": 33784,
"gene_symbol": "AGMO",
"hgvs_c": "c.1079G>A",
"hgvs_p": "p.Arg360Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529278.1",
"strand": false,
"transcript": "ENST00000859219.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 86,
"aa_ref": "R",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 485,
"cdna_start": 105,
"cds_end": null,
"cds_length": 261,
"cds_start": 104,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000407277.6",
"gene_hgnc_id": 33784,
"gene_symbol": "AGMO",
"hgvs_c": "c.104G>A",
"hgvs_p": "p.Arg35Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385742.2",
"strand": false,
"transcript": "ENST00000407277.6",
"transcript_support_level": 3
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 74,
"aa_ref": "R",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 421,
"cdna_start": 140,
"cds_end": null,
"cds_length": 225,
"cds_start": 140,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000418075.1",
"gene_hgnc_id": 33784,
"gene_symbol": "AGMO",
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Arg47Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394412.1",
"strand": false,
"transcript": "ENST00000418075.1",
"transcript_support_level": 3
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 471,
"aa_ref": "R",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2291,
"cdna_start": 1384,
"cds_end": null,
"cds_length": 1416,
"cds_start": 1214,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047420364.1",
"gene_hgnc_id": 33784,
"gene_symbol": "AGMO",
"hgvs_c": "c.1214G>A",
"hgvs_p": "p.Arg405Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276320.1",
"strand": false,
"transcript": "XM_047420364.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 456,
"aa_ref": "R",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1764,
"cdna_start": 1384,
"cds_end": null,
"cds_length": 1371,
"cds_start": 1214,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_006715730.1",
"gene_hgnc_id": 33784,
"gene_symbol": "AGMO",
"hgvs_c": "c.1214G>A",
"hgvs_p": "p.Arg405Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715793.1",
"strand": false,
"transcript": "XM_006715730.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 437,
"aa_ref": "R",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2492,
"cdna_start": 1384,
"cds_end": null,
"cds_length": 1314,
"cds_start": 1214,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011515402.4",
"gene_hgnc_id": 33784,
"gene_symbol": "AGMO",
"hgvs_c": "c.1214G>A",
"hgvs_p": "p.Arg405Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011513704.1",
"strand": false,
"transcript": "XM_011515402.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1620,
"cdna_start": 1384,
"cds_end": null,
"cds_length": 1275,
"cds_start": 1214,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_017012204.2",
"gene_hgnc_id": 33784,
"gene_symbol": "AGMO",
"hgvs_c": "c.1214G>A",
"hgvs_p": "p.Arg405Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016867693.1",
"strand": false,
"transcript": "XM_017012204.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 423,
"aa_ref": "R",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5270,
"cdna_start": 1384,
"cds_end": null,
"cds_length": 1272,
"cds_start": 1214,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_006715731.3",
"gene_hgnc_id": 33784,
"gene_symbol": "AGMO",
"hgvs_c": "c.1214G>A",
"hgvs_p": "p.Arg405Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715794.1",
"strand": false,
"transcript": "XM_006715731.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2007,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XR_001744759.1",
"gene_hgnc_id": 33784,
"gene_symbol": "AGMO",
"hgvs_c": "n.1384G>A",
"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": "XR_001744759.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 750,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000841820.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000309517",
"hgvs_c": "n.279-588C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000841820.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs181773805",
"effect": "missense_variant",
"frequency_reference_population": 0.000375772,
"gene_hgnc_id": 33784,
"gene_symbol": "AGMO",
"gnomad_exomes_ac": 552,
"gnomad_exomes_af": 0.00037788,
"gnomad_exomes_homalt": 6,
"gnomad_genomes_ac": 54,
"gnomad_genomes_af": 0.000355502,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 6,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "not specified|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.098,
"pos": 15365563,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.059,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001004320.2"
}
]
}