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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: 6-33455594-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=33455594&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 33455594,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_152735.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB9",
"gene_hgnc_id": 28323,
"hgvs_c": "c.494C>T",
"hgvs_p": "p.Ser165Phe",
"transcript": "NM_152735.4",
"protein_id": "NP_689948.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 473,
"cds_start": 494,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000395064.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152735.4"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB9",
"gene_hgnc_id": 28323,
"hgvs_c": "c.494C>T",
"hgvs_p": "p.Ser165Phe",
"transcript": "ENST00000395064.3",
"protein_id": "ENSP00000378503.2",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 473,
"cds_start": 494,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152735.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395064.3"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB9",
"gene_hgnc_id": 28323,
"hgvs_c": "c.494C>T",
"hgvs_p": "p.Ser165Phe",
"transcript": "ENST00000932373.1",
"protein_id": "ENSP00000602432.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 473,
"cds_start": 494,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932373.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB9",
"gene_hgnc_id": 28323,
"hgvs_c": "c.494C>T",
"hgvs_p": "p.Ser165Phe",
"transcript": "ENST00000932374.1",
"protein_id": "ENSP00000602433.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 473,
"cds_start": 494,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932374.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB9",
"gene_hgnc_id": 28323,
"hgvs_c": "c.494C>T",
"hgvs_p": "p.Ser165Phe",
"transcript": "ENST00000956060.1",
"protein_id": "ENSP00000626119.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 473,
"cds_start": 494,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956060.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB9",
"gene_hgnc_id": 28323,
"hgvs_c": "c.494C>T",
"hgvs_p": "p.Ser165Phe",
"transcript": "XM_047418350.1",
"protein_id": "XP_047274306.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 473,
"cds_start": 494,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418350.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZBTB9",
"gene_hgnc_id": 28323,
"hgvs_c": "c.82-6C>T",
"hgvs_p": null,
"transcript": "ENST00000612407.1",
"protein_id": "ENSP00000478118.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 115,
"cds_start": null,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612407.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB9",
"gene_hgnc_id": 28323,
"hgvs_c": "c.*79C>T",
"hgvs_p": null,
"transcript": "ENST00000621915.1",
"protein_id": "ENSP00000484265.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 137,
"cds_start": null,
"cds_end": null,
"cds_length": 415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621915.1"
}
],
"gene_symbol": "ZBTB9",
"gene_hgnc_id": 28323,
"dbsnp": "rs200166902",
"frequency_reference_population": 0.000001858971,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000136841,
"gnomad_genomes_af": 0.00000656832,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13585823774337769,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.111,
"revel_prediction": "Benign",
"alphamissense_score": 0.1611,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.987,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.08,
"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_152735.4",
"gene_symbol": "ZBTB9",
"hgnc_id": 28323,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.494C>T",
"hgvs_p": "p.Ser165Phe"
}
],
"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
}