← Back to variant description
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: 17-31937262-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=31937262&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 31937262,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000322652.10",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUZ12",
"gene_hgnc_id": 17101,
"hgvs_c": "c.16C>T",
"hgvs_p": "p.His6Tyr",
"transcript": "NM_015355.4",
"protein_id": "NP_056170.2",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 739,
"cds_start": 16,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 4495,
"mane_select": "ENST00000322652.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUZ12",
"gene_hgnc_id": 17101,
"hgvs_c": "c.16C>T",
"hgvs_p": "p.His6Tyr",
"transcript": "ENST00000322652.10",
"protein_id": "ENSP00000316578.5",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 739,
"cds_start": 16,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 4495,
"mane_select": "NM_015355.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUZ12",
"gene_hgnc_id": 17101,
"hgvs_c": "c.16C>T",
"hgvs_p": "p.His6Tyr",
"transcript": "ENST00000580398.2",
"protein_id": "ENSP00000463936.1",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 716,
"cds_start": 16,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 196,
"cdna_end": null,
"cdna_length": 4373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUZ12",
"gene_hgnc_id": 17101,
"hgvs_c": "c.16C>T",
"hgvs_p": "p.His6Tyr",
"transcript": "NM_001321207.2",
"protein_id": "NP_001308136.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 716,
"cds_start": 16,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 4426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUZ12",
"gene_hgnc_id": 17101,
"hgvs_c": "c.16C>T",
"hgvs_p": "p.His6Tyr",
"transcript": "XM_047435707.1",
"protein_id": "XP_047291663.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 370,
"cds_start": 16,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 1393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUZ12",
"gene_hgnc_id": 17101,
"hgvs_c": "c.-368C>T",
"hgvs_p": null,
"transcript": "XM_047435704.1",
"protein_id": "XP_047291660.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 622,
"cds_start": -4,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUZ12",
"gene_hgnc_id": 17101,
"hgvs_c": "c.-281C>T",
"hgvs_p": null,
"transcript": "XM_006721794.4",
"protein_id": "XP_006721857.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 603,
"cds_start": -4,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SUZ12",
"gene_hgnc_id": 17101,
"dbsnp": "rs1905986323",
"frequency_reference_population": 8.037164e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 8.03716e-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": 0.2833283245563507,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.23000000417232513,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.274,
"revel_prediction": "Benign",
"alphamissense_score": 0.2281,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.377,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.23,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000322652.10",
"gene_symbol": "SUZ12",
"hgnc_id": 17101,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.16C>T",
"hgvs_p": "p.His6Tyr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}