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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: 12-6917072-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6917072&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6917072,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001975.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO2",
"gene_hgnc_id": 3353,
"hgvs_c": "c.275A>C",
"hgvs_p": "p.Asn92Thr",
"transcript": "NM_001975.3",
"protein_id": "NP_001966.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 434,
"cds_start": 275,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 2294,
"mane_select": "ENST00000229277.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO2",
"gene_hgnc_id": 3353,
"hgvs_c": "c.275A>C",
"hgvs_p": "p.Asn92Thr",
"transcript": "ENST00000229277.6",
"protein_id": "ENSP00000229277.1",
"transcript_support_level": 1,
"aa_start": 92,
"aa_end": null,
"aa_length": 434,
"cds_start": 275,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 2294,
"mane_select": "NM_001975.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO2",
"gene_hgnc_id": 3353,
"hgvs_c": "c.275A>C",
"hgvs_p": "p.Asn92Thr",
"transcript": "ENST00000535366.5",
"protein_id": "ENSP00000437402.1",
"transcript_support_level": 1,
"aa_start": 92,
"aa_end": null,
"aa_length": 434,
"cds_start": 275,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 901,
"cdna_end": null,
"cdna_length": 2827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO2",
"gene_hgnc_id": 3353,
"hgvs_c": "c.275A>C",
"hgvs_p": "p.Asn92Thr",
"transcript": "ENST00000541477.5",
"protein_id": "ENSP00000438873.1",
"transcript_support_level": 2,
"aa_start": 92,
"aa_end": null,
"aa_length": 434,
"cds_start": 275,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 2549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO2",
"gene_hgnc_id": 3353,
"hgvs_c": "c.275A>C",
"hgvs_p": "p.Asn92Thr",
"transcript": "ENST00000545045.6",
"protein_id": "ENSP00000438062.1",
"transcript_support_level": 5,
"aa_start": 92,
"aa_end": null,
"aa_length": 315,
"cds_start": 275,
"cds_end": null,
"cds_length": 948,
"cdna_start": 340,
"cdna_end": null,
"cdna_length": 1911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO2",
"gene_hgnc_id": 3353,
"hgvs_c": "c.275A>C",
"hgvs_p": "p.Asn92Thr",
"transcript": "ENST00000537688.5",
"protein_id": "ENSP00000445788.1",
"transcript_support_level": 5,
"aa_start": 92,
"aa_end": null,
"aa_length": 102,
"cds_start": 275,
"cds_end": null,
"cds_length": 310,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO2",
"gene_hgnc_id": 3353,
"hgvs_c": "n.356A>C",
"hgvs_p": null,
"transcript": "ENST00000539713.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO2",
"gene_hgnc_id": 3353,
"hgvs_c": "n.661A>C",
"hgvs_p": null,
"transcript": "ENST00000542509.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENO2",
"gene_hgnc_id": 3353,
"hgvs_c": "c.182-509A>C",
"hgvs_p": null,
"transcript": "ENST00000538763.5",
"protein_id": "ENSP00000441490.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": -4,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ENO2",
"gene_hgnc_id": 3353,
"dbsnp": "rs781876639",
"frequency_reference_population": 6.8406285e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84063e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.343866765499115,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.1,
"revel_prediction": "Benign",
"alphamissense_score": 0.0742,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.136,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001975.3",
"gene_symbol": "ENO2",
"hgnc_id": 3353,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.275A>C",
"hgvs_p": "p.Asn92Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}