← 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: 10-89727892-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=89727892&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 89727892,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001284259.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF20B",
"gene_hgnc_id": 7212,
"hgvs_c": "c.2267A>T",
"hgvs_p": "p.Asn756Ile",
"transcript": "NM_001284259.2",
"protein_id": "NP_001271188.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 1820,
"cds_start": 2267,
"cds_end": null,
"cds_length": 5463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371728.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284259.2"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF20B",
"gene_hgnc_id": 7212,
"hgvs_c": "c.2267A>T",
"hgvs_p": "p.Asn756Ile",
"transcript": "ENST00000371728.8",
"protein_id": "ENSP00000360793.3",
"transcript_support_level": 1,
"aa_start": 756,
"aa_end": null,
"aa_length": 1820,
"cds_start": 2267,
"cds_end": null,
"cds_length": 5463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001284259.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371728.8"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF20B",
"gene_hgnc_id": 7212,
"hgvs_c": "c.2147A>T",
"hgvs_p": "p.Asn716Ile",
"transcript": "ENST00000260753.8",
"protein_id": "ENSP00000260753.4",
"transcript_support_level": 1,
"aa_start": 716,
"aa_end": null,
"aa_length": 1780,
"cds_start": 2147,
"cds_end": null,
"cds_length": 5343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260753.8"
},
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF20B",
"gene_hgnc_id": 7212,
"hgvs_c": "n.813A>T",
"hgvs_p": null,
"transcript": "ENST00000478929.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "pseudogene",
"feature": "ENST00000478929.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF20B",
"gene_hgnc_id": 7212,
"hgvs_c": "c.2180A>T",
"hgvs_p": "p.Asn727Ile",
"transcript": "ENST00000919433.1",
"protein_id": "ENSP00000589492.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 1791,
"cds_start": 2180,
"cds_end": null,
"cds_length": 5376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919433.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF20B",
"gene_hgnc_id": 7212,
"hgvs_c": "c.2147A>T",
"hgvs_p": "p.Asn716Ile",
"transcript": "NM_016195.4",
"protein_id": "NP_057279.2",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 1780,
"cds_start": 2147,
"cds_end": null,
"cds_length": 5343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016195.4"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF20B",
"gene_hgnc_id": 7212,
"hgvs_c": "c.2054A>T",
"hgvs_p": "p.Asn685Ile",
"transcript": "NM_001382506.1",
"protein_id": "NP_001369435.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 1749,
"cds_start": 2054,
"cds_end": null,
"cds_length": 5250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382506.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF20B",
"gene_hgnc_id": 7212,
"hgvs_c": "n.2076A>T",
"hgvs_p": null,
"transcript": "NR_168374.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_168374.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF20B",
"gene_hgnc_id": 7212,
"hgvs_c": "n.1788A>T",
"hgvs_p": null,
"transcript": "NR_168375.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_168375.1"
}
],
"gene_symbol": "KIF20B",
"gene_hgnc_id": 7212,
"dbsnp": "rs12572012",
"frequency_reference_population": 0.20402858,
"hom_count_reference_population": 34622,
"allele_count_reference_population": 313403,
"gnomad_exomes_af": 0.206147,
"gnomad_genomes_af": 0.184762,
"gnomad_exomes_ac": 285294,
"gnomad_genomes_ac": 28109,
"gnomad_exomes_homalt": 31486,
"gnomad_genomes_homalt": 3136,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004174619913101196,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.023,
"revel_prediction": "Benign",
"alphamissense_score": 0.185,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.336,
"phylop100way_prediction": "Benign",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001284259.2",
"gene_symbol": "KIF20B",
"hgnc_id": 7212,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2267A>T",
"hgvs_p": "p.Asn756Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}