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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: 1-161983769-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161983769&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 161983769,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001347700.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLFML2B",
"gene_hgnc_id": 24558,
"hgvs_c": "c.2159A>G",
"hgvs_p": "p.Tyr720Cys",
"transcript": "NM_015441.3",
"protein_id": "NP_056256.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 750,
"cds_start": 2159,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000294794.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015441.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLFML2B",
"gene_hgnc_id": 24558,
"hgvs_c": "c.2159A>G",
"hgvs_p": "p.Tyr720Cys",
"transcript": "ENST00000294794.8",
"protein_id": "ENSP00000294794.3",
"transcript_support_level": 1,
"aa_start": 720,
"aa_end": null,
"aa_length": 750,
"cds_start": 2159,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015441.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000294794.8"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLFML2B",
"gene_hgnc_id": 24558,
"hgvs_c": "c.2165A>G",
"hgvs_p": "p.Tyr722Cys",
"transcript": "NM_001347700.2",
"protein_id": "NP_001334629.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 752,
"cds_start": 2165,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347700.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLFML2B",
"gene_hgnc_id": 24558,
"hgvs_c": "c.2162A>G",
"hgvs_p": "p.Tyr721Cys",
"transcript": "NM_001297713.2",
"protein_id": "NP_001284642.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 751,
"cds_start": 2162,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297713.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLFML2B",
"gene_hgnc_id": 24558,
"hgvs_c": "c.2162A>G",
"hgvs_p": "p.Tyr721Cys",
"transcript": "ENST00000367940.2",
"protein_id": "ENSP00000356917.2",
"transcript_support_level": 2,
"aa_start": 721,
"aa_end": null,
"aa_length": 751,
"cds_start": 2162,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367940.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "OLFML2B",
"gene_hgnc_id": 24558,
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys",
"transcript": "ENST00000367938.1",
"protein_id": "ENSP00000356915.1",
"transcript_support_level": 2,
"aa_start": 203,
"aa_end": null,
"aa_length": 233,
"cds_start": 608,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367938.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLFML2B",
"gene_hgnc_id": 24558,
"hgvs_c": "c.1439A>G",
"hgvs_p": "p.Tyr480Cys",
"transcript": "XM_011509398.3",
"protein_id": "XP_011507700.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 510,
"cds_start": 1439,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509398.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLFML2B",
"gene_hgnc_id": 24558,
"hgvs_c": "n.173A>G",
"hgvs_p": null,
"transcript": "ENST00000525589.1",
"protein_id": "ENSP00000435212.1",
"transcript_support_level": 3,
"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": "ENST00000525589.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLFML2B",
"gene_hgnc_id": 24558,
"hgvs_c": "n.179A>G",
"hgvs_p": null,
"transcript": "ENST00000533556.1",
"protein_id": "ENSP00000436707.1",
"transcript_support_level": 3,
"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": "ENST00000533556.1"
}
],
"gene_symbol": "OLFML2B",
"gene_hgnc_id": 24558,
"dbsnp": "rs747297055",
"frequency_reference_population": 0.0000027361764,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273618,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8311059474945068,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.811,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.4764,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.37,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.864,
"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_001347700.2",
"gene_symbol": "OLFML2B",
"hgnc_id": 24558,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2165A>G",
"hgvs_p": "p.Tyr722Cys"
}
],
"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
}