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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: 12-45851533-CAG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=45851533&ref=CAG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 45851533,
"ref": "CAG",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000334344.11",
"consequences": [
{
"aa_ref": "SG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID2",
"gene_hgnc_id": 18037,
"hgvs_c": "c.3411_3412delAG",
"hgvs_p": "p.Gly1139fs",
"transcript": "NM_152641.4",
"protein_id": "NP_689854.2",
"transcript_support_level": null,
"aa_start": 1137,
"aa_end": null,
"aa_length": 1835,
"cds_start": 3411,
"cds_end": null,
"cds_length": 5508,
"cdna_start": 3542,
"cdna_end": null,
"cdna_length": 8598,
"mane_select": "ENST00000334344.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SG",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID2",
"gene_hgnc_id": 18037,
"hgvs_c": "c.3411_3412delAG",
"hgvs_p": "p.Gly1139fs",
"transcript": "ENST00000334344.11",
"protein_id": "ENSP00000335044.6",
"transcript_support_level": 1,
"aa_start": 1137,
"aa_end": null,
"aa_length": 1835,
"cds_start": 3411,
"cds_end": null,
"cds_length": 5508,
"cdna_start": 3542,
"cdna_end": null,
"cdna_length": 8598,
"mane_select": "NM_152641.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID2",
"gene_hgnc_id": 18037,
"hgvs_c": "c.3411_3412delAG",
"hgvs_p": "p.Gly1139fs",
"transcript": "ENST00000422737.7",
"protein_id": "ENSP00000415650.3",
"transcript_support_level": 1,
"aa_start": 1137,
"aa_end": null,
"aa_length": 1788,
"cds_start": 3411,
"cds_end": null,
"cds_length": 5367,
"cdna_start": 3542,
"cdna_end": null,
"cdna_length": 5691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID2",
"gene_hgnc_id": 18037,
"hgvs_c": "c.2256_2257delAG",
"hgvs_p": "p.Gly754fs",
"transcript": "ENST00000444670.5",
"protein_id": "ENSP00000397307.2",
"transcript_support_level": 1,
"aa_start": 752,
"aa_end": null,
"aa_length": 1450,
"cds_start": 2256,
"cds_end": null,
"cds_length": 4353,
"cdna_start": 2257,
"cdna_end": null,
"cdna_length": 7316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID2",
"gene_hgnc_id": 18037,
"hgvs_c": "n.*1961_*1962delAG",
"hgvs_p": null,
"transcript": "ENST00000479608.5",
"protein_id": "ENSP00000514783.1",
"transcript_support_level": 1,
"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": 7761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID2",
"gene_hgnc_id": 18037,
"hgvs_c": "n.*1961_*1962delAG",
"hgvs_p": null,
"transcript": "ENST00000479608.5",
"protein_id": "ENSP00000514783.1",
"transcript_support_level": 1,
"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": 7761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID2",
"gene_hgnc_id": 18037,
"hgvs_c": "c.3411_3412delAG",
"hgvs_p": "p.Gly1139fs",
"transcript": "NM_001347839.2",
"protein_id": "NP_001334768.1",
"transcript_support_level": null,
"aa_start": 1137,
"aa_end": null,
"aa_length": 1788,
"cds_start": 3411,
"cds_end": null,
"cds_length": 5367,
"cdna_start": 3542,
"cdna_end": null,
"cdna_length": 5691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID2",
"gene_hgnc_id": 18037,
"hgvs_c": "c.3411_3412delAG",
"hgvs_p": "p.Gly1139fs",
"transcript": "XM_047428489.1",
"protein_id": "XP_047284445.1",
"transcript_support_level": null,
"aa_start": 1137,
"aa_end": null,
"aa_length": 1626,
"cds_start": 3411,
"cds_end": null,
"cds_length": 4881,
"cdna_start": 3542,
"cdna_end": null,
"cdna_length": 5110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ARID2",
"gene_hgnc_id": 18037,
"dbsnp": "rs1555155252",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.536,
"phylop100way_prediction": "Pathogenic",
"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": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000334344.11",
"gene_symbol": "ARID2",
"hgnc_id": 18037,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3411_3412delAG",
"hgvs_p": "p.Gly1139fs"
}
],
"clinvar_disease": "Coffin-Siris syndrome 6",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Coffin-Siris syndrome 6",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}