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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: 6-28230344-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=28230344&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 28230344,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000252207.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN9",
"gene_hgnc_id": 12984,
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Arg193*",
"transcript": "ENST00000425468.6",
"protein_id": "ENSP00000404074.2",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 445,
"cds_start": 577,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 1791,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZSCAN9",
"gene_hgnc_id": 12984,
"hgvs_c": "c.569-2218C>T",
"hgvs_p": null,
"transcript": "NM_006299.5",
"protein_id": "NP_006290.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 394,
"cds_start": -4,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1659,
"mane_select": "ENST00000252207.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZSCAN9",
"gene_hgnc_id": 12984,
"hgvs_c": "c.569-2218C>T",
"hgvs_p": null,
"transcript": "ENST00000252207.10",
"protein_id": "ENSP00000252207.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 394,
"cds_start": -4,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1659,
"mane_select": "NM_006299.5",
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZSCAN9",
"gene_hgnc_id": 12984,
"hgvs_c": "c.569-2218C>T",
"hgvs_p": null,
"transcript": "ENST00000526391.5",
"protein_id": "ENSP00000476254.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 196,
"cds_start": -4,
"cds_end": null,
"cds_length": 593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN9",
"gene_hgnc_id": 12984,
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Arg193*",
"transcript": "NM_001199479.2",
"protein_id": "NP_001186408.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 445,
"cds_start": 577,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 1812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN9",
"gene_hgnc_id": 12984,
"hgvs_c": "c.991C>T",
"hgvs_p": "p.Arg331*",
"transcript": "XM_011514875.3",
"protein_id": "XP_011513177.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 583,
"cds_start": 991,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 1258,
"cdna_end": null,
"cdna_length": 2328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN9",
"gene_hgnc_id": 12984,
"hgvs_c": "c.730C>T",
"hgvs_p": "p.Arg244*",
"transcript": "XM_047419316.1",
"protein_id": "XP_047275272.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 496,
"cds_start": 730,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 2387,
"cdna_end": null,
"cdna_length": 3457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN9",
"gene_hgnc_id": 12984,
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Arg193*",
"transcript": "XM_047419317.1",
"protein_id": "XP_047275273.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 445,
"cds_start": 577,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 1776,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZSCAN9",
"gene_hgnc_id": 12984,
"hgvs_c": "c.569-2218C>T",
"hgvs_p": null,
"transcript": "NM_001199480.2",
"protein_id": "NP_001186409.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 394,
"cds_start": -4,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1623,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZSCAN9",
"gene_hgnc_id": 12984,
"hgvs_c": "c.569-2218C>T",
"hgvs_p": null,
"transcript": "ENST00000531979.5",
"protein_id": "ENSP00000433402.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 394,
"cds_start": -4,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1601,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZSCAN9",
"gene_hgnc_id": 12984,
"hgvs_c": "c.569-58C>T",
"hgvs_p": null,
"transcript": "ENST00000527844.1",
"protein_id": "ENSP00000436166.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 368,
"cds_start": -4,
"cds_end": null,
"cds_length": 1109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZSCAN9",
"gene_hgnc_id": 12984,
"hgvs_c": "n.*638+1979C>T",
"hgvs_p": null,
"transcript": "ENST00000647743.1",
"protein_id": "ENSP00000497583.1",
"transcript_support_level": null,
"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": 2171,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZSCAN9",
"gene_hgnc_id": 12984,
"hgvs_c": "c.965-2218C>T",
"hgvs_p": null,
"transcript": "XM_011514878.3",
"protein_id": "XP_011513180.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 526,
"cds_start": -4,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZSCAN9",
"gene_hgnc_id": 12984,
"dbsnp": "rs76542212",
"frequency_reference_population": 0.06039914,
"hom_count_reference_population": 3289,
"allele_count_reference_population": 92355,
"gnomad_exomes_af": 0.0622329,
"gnomad_genomes_af": 0.0438063,
"gnomad_exomes_ac": 85689,
"gnomad_genomes_ac": 6666,
"gnomad_exomes_homalt": 3078,
"gnomad_genomes_homalt": 211,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4399999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.568,
"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": "ENST00000252207.10",
"gene_symbol": "ZSCAN9",
"hgnc_id": 12984,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.569-2218C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}