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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: X-15823096-CG-AT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=15823096&ref=CG&alt=AT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 15823096,
"ref": "CG",
"alt": "AT",
"effect": "missense_variant",
"transcript": "NM_005089.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZRSR2",
"gene_hgnc_id": 23019,
"hgvs_c": "c.1303_1304delCGinsAT",
"hgvs_p": "p.Arg435Met",
"transcript": "NM_005089.4",
"protein_id": "NP_005080.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 482,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000307771.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005089.4"
},
{
"aa_ref": "R",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZRSR2",
"gene_hgnc_id": 23019,
"hgvs_c": "c.1303_1304delCGinsAT",
"hgvs_p": "p.Arg435Met",
"transcript": "ENST00000307771.8",
"protein_id": "ENSP00000303015.7",
"transcript_support_level": 1,
"aa_start": 435,
"aa_end": null,
"aa_length": 482,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005089.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307771.8"
},
{
"aa_ref": "R",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZRSR2",
"gene_hgnc_id": 23019,
"hgvs_c": "c.1321_1322delCGinsAT",
"hgvs_p": "p.Arg441Met",
"transcript": "ENST00000964213.1",
"protein_id": "ENSP00000634272.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 488,
"cds_start": 1321,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964213.1"
},
{
"aa_ref": "R",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZRSR2",
"gene_hgnc_id": 23019,
"hgvs_c": "c.1315_1316delCGinsAT",
"hgvs_p": "p.Arg439Met",
"transcript": "ENST00000964212.1",
"protein_id": "ENSP00000634271.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 486,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964212.1"
},
{
"aa_ref": "R",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZRSR2",
"gene_hgnc_id": 23019,
"hgvs_c": "c.1270_1271delCGinsAT",
"hgvs_p": "p.Arg424Met",
"transcript": "ENST00000936517.1",
"protein_id": "ENSP00000606576.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 471,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936517.1"
},
{
"aa_ref": "R",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZRSR2",
"gene_hgnc_id": 23019,
"hgvs_c": "c.1264_1265delCGinsAT",
"hgvs_p": "p.Arg422Met",
"transcript": "ENST00000879159.1",
"protein_id": "ENSP00000549218.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 469,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879159.1"
},
{
"aa_ref": "R",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZRSR2",
"gene_hgnc_id": 23019,
"hgvs_c": "c.1225_1226delCGinsAT",
"hgvs_p": "p.Arg409Met",
"transcript": "ENST00000684799.1",
"protein_id": "ENSP00000510773.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 460,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684799.1"
},
{
"aa_ref": "R",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZRSR2",
"gene_hgnc_id": 23019,
"hgvs_c": "c.1189_1190delCGinsAT",
"hgvs_p": "p.Arg397Met",
"transcript": "ENST00000936516.1",
"protein_id": "ENSP00000606575.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 444,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936516.1"
},
{
"aa_ref": "R",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZRSR2",
"gene_hgnc_id": 23019,
"hgvs_c": "c.1372_1373delCGinsAT",
"hgvs_p": "p.Arg458Met",
"transcript": "XM_011545589.4",
"protein_id": "XP_011543891.3",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 505,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545589.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZRSR2",
"gene_hgnc_id": 23019,
"hgvs_c": "c.204-62_204-61delCGinsAT",
"hgvs_p": null,
"transcript": "ENST00000936518.1",
"protein_id": "ENSP00000606577.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 95,
"cds_start": null,
"cds_end": null,
"cds_length": 288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936518.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZRSR2",
"gene_hgnc_id": 23019,
"hgvs_c": "n.1303_1304delCGinsAT",
"hgvs_p": null,
"transcript": "ENST00000690252.1",
"protein_id": "ENSP00000510140.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000690252.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZRSR2",
"gene_hgnc_id": 23019,
"hgvs_c": "n.1189_1190delCGinsAT",
"hgvs_p": null,
"transcript": "ENST00000691502.1",
"protein_id": "ENSP00000509336.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000691502.1"
}
],
"gene_symbol": "ZRSR2",
"gene_hgnc_id": 23019,
"dbsnp": "rs587778765",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.183,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_005089.4",
"gene_symbol": "ZRSR2",
"hgnc_id": 23019,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1303_1304delCGinsAT",
"hgvs_p": "p.Arg435Met"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "not provided",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "not provided",
"custom_annotations": null
}
],
"message": null
}