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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: 3-167449372-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=167449372&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 167449372,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006217.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINI2",
"gene_hgnc_id": 8945,
"hgvs_c": "c.995C>A",
"hgvs_p": "p.Thr332Lys",
"transcript": "NM_006217.6",
"protein_id": "NP_006208.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 405,
"cds_start": 995,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 1444,
"mane_select": "ENST00000264677.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006217.6"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINI2",
"gene_hgnc_id": 8945,
"hgvs_c": "c.995C>A",
"hgvs_p": "p.Thr332Lys",
"transcript": "ENST00000264677.9",
"protein_id": "ENSP00000264677.4",
"transcript_support_level": 1,
"aa_start": 332,
"aa_end": null,
"aa_length": 405,
"cds_start": 995,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 1444,
"mane_select": "NM_006217.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264677.9"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINI2",
"gene_hgnc_id": 8945,
"hgvs_c": "c.995C>A",
"hgvs_p": "p.Thr332Lys",
"transcript": "ENST00000461846.5",
"protein_id": "ENSP00000417692.1",
"transcript_support_level": 1,
"aa_start": 332,
"aa_end": null,
"aa_length": 405,
"cds_start": 995,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 1096,
"cdna_end": null,
"cdna_length": 1514,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000461846.5"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINI2",
"gene_hgnc_id": 8945,
"hgvs_c": "c.995C>A",
"hgvs_p": "p.Thr332Lys",
"transcript": "ENST00000471111.5",
"protein_id": "ENSP00000419407.1",
"transcript_support_level": 1,
"aa_start": 332,
"aa_end": null,
"aa_length": 405,
"cds_start": 995,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 1064,
"cdna_end": null,
"cdna_length": 1331,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471111.5"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINI2",
"gene_hgnc_id": 8945,
"hgvs_c": "c.995C>A",
"hgvs_p": "p.Thr332Lys",
"transcript": "NM_001012303.3",
"protein_id": "NP_001012303.2",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 405,
"cds_start": 995,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 1535,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001012303.3"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINI2",
"gene_hgnc_id": 8945,
"hgvs_c": "c.995C>A",
"hgvs_p": "p.Thr332Lys",
"transcript": "NM_001394327.1",
"protein_id": "NP_001381256.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 405,
"cds_start": 995,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 1268,
"cdna_end": null,
"cdna_length": 1667,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394327.1"
}
],
"gene_symbol": "SERPINI2",
"gene_hgnc_id": 8945,
"dbsnp": "rs201666797",
"frequency_reference_population": 0.0000037229665,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000205473,
"gnomad_genomes_af": 0.0000197926,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13125041127204895,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.158,
"revel_prediction": "Benign",
"alphamissense_score": 0.1576,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.727,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006217.6",
"gene_symbol": "SERPINI2",
"hgnc_id": 8945,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.995C>A",
"hgvs_p": "p.Thr332Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}