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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: 10-45303864-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=45303864&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 45303864,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001004297.3",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OR13A1",
"gene_hgnc_id": 14772,
"hgvs_c": "c.559T>G",
"hgvs_p": "p.Cys187Gly",
"transcript": "NM_001004297.3",
"protein_id": "NP_001004297.2",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 328,
"cds_start": 559,
"cds_end": null,
"cds_length": 987,
"cdna_start": 868,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": "ENST00000553795.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001004297.3"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OR13A1",
"gene_hgnc_id": 14772,
"hgvs_c": "c.559T>G",
"hgvs_p": "p.Cys187Gly",
"transcript": "ENST00000553795.6",
"protein_id": "ENSP00000451950.1",
"transcript_support_level": 6,
"aa_start": 187,
"aa_end": null,
"aa_length": 328,
"cds_start": 559,
"cds_end": null,
"cds_length": 987,
"cdna_start": 868,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": "NM_001004297.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553795.6"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OR13A1",
"gene_hgnc_id": 14772,
"hgvs_c": "c.559T>G",
"hgvs_p": "p.Cys187Gly",
"transcript": "ENST00000374401.3",
"protein_id": "ENSP00000363522.2",
"transcript_support_level": 6,
"aa_start": 187,
"aa_end": null,
"aa_length": 328,
"cds_start": 559,
"cds_end": null,
"cds_length": 987,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 2574,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374401.3"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OR13A1",
"gene_hgnc_id": 14772,
"hgvs_c": "c.559T>G",
"hgvs_p": "p.Cys187Gly",
"transcript": "ENST00000536058.1",
"protein_id": "ENSP00000438657.1",
"transcript_support_level": 6,
"aa_start": 187,
"aa_end": null,
"aa_length": 328,
"cds_start": 559,
"cds_end": null,
"cds_length": 987,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 2023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536058.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OR13A1",
"gene_hgnc_id": 14772,
"hgvs_c": "c.559T>G",
"hgvs_p": "p.Cys187Gly",
"transcript": "ENST00000894987.1",
"protein_id": "ENSP00000565046.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 328,
"cds_start": 559,
"cds_end": null,
"cds_length": 987,
"cdna_start": 3660,
"cdna_end": null,
"cdna_length": 5226,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894987.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OR13A1",
"gene_hgnc_id": 14772,
"hgvs_c": "c.559T>G",
"hgvs_p": "p.Cys187Gly",
"transcript": "ENST00000894988.1",
"protein_id": "ENSP00000565047.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 328,
"cds_start": 559,
"cds_end": null,
"cds_length": 987,
"cdna_start": 1481,
"cdna_end": null,
"cdna_length": 3047,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894988.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OR13A1",
"gene_hgnc_id": 14772,
"hgvs_c": "c.559T>G",
"hgvs_p": "p.Cys187Gly",
"transcript": "ENST00000955933.1",
"protein_id": "ENSP00000625992.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 328,
"cds_start": 559,
"cds_end": null,
"cds_length": 987,
"cdna_start": 869,
"cdna_end": null,
"cdna_length": 2132,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955933.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OR13A1",
"gene_hgnc_id": 14772,
"hgvs_c": "c.559T>G",
"hgvs_p": "p.Cys187Gly",
"transcript": "XM_017016632.3",
"protein_id": "XP_016872121.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 328,
"cds_start": 559,
"cds_end": null,
"cds_length": 987,
"cdna_start": 4250,
"cdna_end": null,
"cdna_length": 5817,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016632.3"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OR13A1",
"gene_hgnc_id": 14772,
"hgvs_c": "c.559T>G",
"hgvs_p": "p.Cys187Gly",
"transcript": "XM_047425729.1",
"protein_id": "XP_047281685.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 328,
"cds_start": 559,
"cds_end": null,
"cds_length": 987,
"cdna_start": 7146,
"cdna_end": null,
"cdna_length": 8713,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425729.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OR13A1",
"gene_hgnc_id": 14772,
"hgvs_c": "c.559T>G",
"hgvs_p": "p.Cys187Gly",
"transcript": "XM_047425730.1",
"protein_id": "XP_047281686.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 328,
"cds_start": 559,
"cds_end": null,
"cds_length": 987,
"cdna_start": 4221,
"cdna_end": null,
"cdna_length": 5788,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425730.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OR13A1",
"gene_hgnc_id": 14772,
"hgvs_c": "c.559T>G",
"hgvs_p": "p.Cys187Gly",
"transcript": "XM_047425731.1",
"protein_id": "XP_047281687.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 328,
"cds_start": 559,
"cds_end": null,
"cds_length": 987,
"cdna_start": 4217,
"cdna_end": null,
"cdna_length": 5784,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425731.1"
}
],
"gene_symbol": "OR13A1",
"gene_hgnc_id": 14772,
"dbsnp": "rs755376366",
"frequency_reference_population": 0.000009920451,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.00000958523,
"gnomad_genomes_af": 0.0000131363,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8340763449668884,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.339,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6639,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.625,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001004297.3",
"gene_symbol": "OR13A1",
"hgnc_id": 14772,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.559T>G",
"hgvs_p": "p.Cys187Gly"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}