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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: 15-43369765-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=43369765&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 43369765,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_152455.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN29",
"gene_hgnc_id": 26673,
"hgvs_c": "c.149A>T",
"hgvs_p": "p.Glu50Val",
"transcript": "NM_001372080.1",
"protein_id": "NP_001359009.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 852,
"cds_start": 149,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000684362.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372080.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN29",
"gene_hgnc_id": 26673,
"hgvs_c": "c.149A>T",
"hgvs_p": "p.Glu50Val",
"transcript": "ENST00000684362.1",
"protein_id": "ENSP00000507363.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 852,
"cds_start": 149,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001372080.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684362.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN29",
"gene_hgnc_id": 26673,
"hgvs_c": "c.149A>T",
"hgvs_p": "p.Glu50Val",
"transcript": "ENST00000396976.6",
"protein_id": "ENSP00000380174.2",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 852,
"cds_start": 149,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396976.6"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN29",
"gene_hgnc_id": 26673,
"hgvs_c": "c.146A>T",
"hgvs_p": "p.Glu49Val",
"transcript": "ENST00000562072.5",
"protein_id": "ENSP00000456089.1",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 556,
"cds_start": 146,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562072.5"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN29",
"gene_hgnc_id": 26673,
"hgvs_c": "c.146A>T",
"hgvs_p": "p.Glu49Val",
"transcript": "ENST00000568898.5",
"protein_id": "ENSP00000456883.1",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 462,
"cds_start": 146,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568898.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN29",
"gene_hgnc_id": 26673,
"hgvs_c": "n.149A>T",
"hgvs_p": null,
"transcript": "ENST00000566849.5",
"protein_id": "ENSP00000457835.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000566849.5"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN29",
"gene_hgnc_id": 26673,
"hgvs_c": "c.149A>T",
"hgvs_p": "p.Glu50Val",
"transcript": "ENST00000942835.1",
"protein_id": "ENSP00000612894.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 853,
"cds_start": 149,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942835.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN29",
"gene_hgnc_id": 26673,
"hgvs_c": "c.149A>T",
"hgvs_p": "p.Glu50Val",
"transcript": "NM_152455.4",
"protein_id": "NP_689668.3",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 852,
"cds_start": 149,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152455.4"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN29",
"gene_hgnc_id": 26673,
"hgvs_c": "c.149A>T",
"hgvs_p": "p.Glu50Val",
"transcript": "ENST00000923737.1",
"protein_id": "ENSP00000593796.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 852,
"cds_start": 149,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923737.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN29",
"gene_hgnc_id": 26673,
"hgvs_c": "c.149A>T",
"hgvs_p": "p.Glu50Val",
"transcript": "ENST00000942834.1",
"protein_id": "ENSP00000612893.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 696,
"cds_start": 149,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942834.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN29",
"gene_hgnc_id": 26673,
"hgvs_c": "c.149A>T",
"hgvs_p": "p.Glu50Val",
"transcript": "XM_047432187.1",
"protein_id": "XP_047288143.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 852,
"cds_start": 149,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432187.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN29",
"gene_hgnc_id": 26673,
"hgvs_c": "c.-625A>T",
"hgvs_p": null,
"transcript": "XM_047432188.1",
"protein_id": "XP_047288144.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 526,
"cds_start": null,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432188.1"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "n.293+63T>A",
"hgvs_p": null,
"transcript": "ENST00000570081.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000570081.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN29",
"gene_hgnc_id": 26673,
"hgvs_c": "c.-89A>T",
"hgvs_p": null,
"transcript": "ENST00000570181.2",
"protein_id": "ENSP00000454548.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 330,
"cds_start": null,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570181.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"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": "ZSCAN29",
"gene_hgnc_id": 26673,
"hgvs_c": "n.*233A>T",
"hgvs_p": null,
"transcript": "ENST00000563508.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000563508.1"
}
],
"gene_symbol": "ZSCAN29",
"gene_hgnc_id": 26673,
"dbsnp": "rs199823856",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9017965197563171,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.252,
"revel_prediction": "Benign",
"alphamissense_score": 0.5325,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.604,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152455.4",
"gene_symbol": "ZSCAN29",
"hgnc_id": 26673,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.149A>T",
"hgvs_p": "p.Glu50Val"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000570081.1",
"gene_symbol": "TUBGCP4",
"hgnc_id": 16691,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.293+63T>A",
"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
}