← 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: 6-28359594-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=28359594&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 28359594,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000252211.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN3",
"gene_hgnc_id": 13853,
"hgvs_c": "c.8G>C",
"hgvs_p": "p.Arg3Thr",
"transcript": "NM_024493.4",
"protein_id": "NP_077819.2",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 538,
"cds_start": 8,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 4687,
"mane_select": "ENST00000252211.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN3",
"gene_hgnc_id": 13853,
"hgvs_c": "c.8G>C",
"hgvs_p": "p.Arg3Thr",
"transcript": "ENST00000252211.7",
"protein_id": "ENSP00000252211.2",
"transcript_support_level": 1,
"aa_start": 3,
"aa_end": null,
"aa_length": 538,
"cds_start": 8,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 4687,
"mane_select": "NM_024493.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN3",
"gene_hgnc_id": 13853,
"hgvs_c": "c.8G>C",
"hgvs_p": "p.Arg3Thr",
"transcript": "ENST00000377255.3",
"protein_id": "ENSP00000366465.1",
"transcript_support_level": 1,
"aa_start": 3,
"aa_end": null,
"aa_length": 538,
"cds_start": 8,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 305,
"cdna_end": null,
"cdna_length": 4799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN3",
"gene_hgnc_id": 13853,
"hgvs_c": "c.8G>C",
"hgvs_p": "p.Arg3Thr",
"transcript": "NM_001242894.2",
"protein_id": "NP_001229823.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 538,
"cds_start": 8,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 4804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN3",
"gene_hgnc_id": 13853,
"hgvs_c": "c.8G>C",
"hgvs_p": "p.Arg3Thr",
"transcript": "XM_006715215.3",
"protein_id": "XP_006715278.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 538,
"cds_start": 8,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 157,
"cdna_end": null,
"cdna_length": 4653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN3",
"gene_hgnc_id": 13853,
"hgvs_c": "c.8G>C",
"hgvs_p": "p.Arg3Thr",
"transcript": "XM_047419373.1",
"protein_id": "XP_047275329.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 538,
"cds_start": 8,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 5008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN3",
"gene_hgnc_id": 13853,
"hgvs_c": "c.8G>C",
"hgvs_p": "p.Arg3Thr",
"transcript": "XM_047419374.1",
"protein_id": "XP_047275330.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 509,
"cds_start": 8,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 4921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN3",
"gene_hgnc_id": 13853,
"hgvs_c": "c.8G>C",
"hgvs_p": "p.Arg3Thr",
"transcript": "XM_047419375.1",
"protein_id": "XP_047275331.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 509,
"cds_start": 8,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 157,
"cdna_end": null,
"cdna_length": 4566,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN3",
"gene_hgnc_id": 13853,
"hgvs_c": "c.-1085G>C",
"hgvs_p": null,
"transcript": "XM_005249423.4",
"protein_id": "XP_005249480.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 405,
"cds_start": -4,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5594,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN3",
"gene_hgnc_id": 13853,
"hgvs_c": "c.-42-1730G>C",
"hgvs_p": null,
"transcript": "NM_001242895.2",
"protein_id": "NP_001229824.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 390,
"cds_start": -4,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4223,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN3",
"gene_hgnc_id": 13853,
"hgvs_c": "c.-42-1730G>C",
"hgvs_p": null,
"transcript": "ENST00000341464.9",
"protein_id": "ENSP00000341883.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 390,
"cds_start": -4,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1794,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN3",
"gene_hgnc_id": 13853,
"hgvs_c": "c.-42-1730G>C",
"hgvs_p": null,
"transcript": "XM_047419376.1",
"protein_id": "XP_047275332.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 390,
"cds_start": -4,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZKSCAN3",
"gene_hgnc_id": 13853,
"dbsnp": "rs733743",
"frequency_reference_population": 0.07635454,
"hom_count_reference_population": 5549,
"allele_count_reference_population": 123195,
"gnomad_exomes_af": 0.0762791,
"gnomad_genomes_af": 0.0770787,
"gnomad_exomes_ac": 111457,
"gnomad_genomes_ac": 11738,
"gnomad_exomes_homalt": 4998,
"gnomad_genomes_homalt": 551,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0015053153038024902,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.05,
"revel_prediction": "Benign",
"alphamissense_score": 0.1615,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.423,
"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": "ENST00000252211.7",
"gene_symbol": "ZKSCAN3",
"hgnc_id": 13853,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.8G>C",
"hgvs_p": "p.Arg3Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}