← 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: 12-45852633-CGG-GGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=45852633&ref=CGG&alt=GGA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "ARID2",
"hgnc_id": 18037,
"hgvs_c": "c.4510_4512delCGGinsGGA",
"hgvs_p": "p.Arg1504Gly",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_152641.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GGA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1835,
"aa_ref": "R",
"aa_start": 1504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8598,
"cdna_start": 4641,
"cds_end": null,
"cds_length": 5508,
"cds_start": 4510,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_152641.4",
"gene_hgnc_id": 18037,
"gene_symbol": "ARID2",
"hgvs_c": "c.4510_4512delCGGinsGGA",
"hgvs_p": "p.Arg1504Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000334344.11",
"protein_coding": true,
"protein_id": "NP_689854.2",
"strand": true,
"transcript": "NM_152641.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1835,
"aa_ref": "R",
"aa_start": 1504,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8598,
"cdna_start": 4641,
"cds_end": null,
"cds_length": 5508,
"cds_start": 4510,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000334344.11",
"gene_hgnc_id": 18037,
"gene_symbol": "ARID2",
"hgvs_c": "c.4510_4512delCGGinsGGA",
"hgvs_p": "p.Arg1504Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_152641.4",
"protein_coding": true,
"protein_id": "ENSP00000335044.6",
"strand": true,
"transcript": "ENST00000334344.11",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1788,
"aa_ref": "R",
"aa_start": 1504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5691,
"cdna_start": 4641,
"cds_end": null,
"cds_length": 5367,
"cds_start": 4510,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000422737.7",
"gene_hgnc_id": 18037,
"gene_symbol": "ARID2",
"hgvs_c": "c.4510_4512delCGGinsGGA",
"hgvs_p": "p.Arg1504Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415650.3",
"strand": true,
"transcript": "ENST00000422737.7",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1450,
"aa_ref": "R",
"aa_start": 1119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7316,
"cdna_start": 3356,
"cds_end": null,
"cds_length": 4353,
"cds_start": 3355,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000444670.5",
"gene_hgnc_id": 18037,
"gene_symbol": "ARID2",
"hgvs_c": "c.3355_3357delCGGinsGGA",
"hgvs_p": "p.Arg1119Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397307.2",
"strand": true,
"transcript": "ENST00000444670.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 529,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4736,
"cdna_start": 719,
"cds_end": null,
"cds_length": 1590,
"cds_start": 718,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000457135.2",
"gene_hgnc_id": 18037,
"gene_symbol": "ARID2",
"hgvs_c": "c.718_720delCGGinsGGA",
"hgvs_p": "p.Arg240Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388357.3",
"strand": true,
"transcript": "ENST00000457135.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 7761,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000479608.5",
"gene_hgnc_id": 18037,
"gene_symbol": "ARID2",
"hgvs_c": "n.*3060_*3062delCGGinsGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514783.1",
"strand": true,
"transcript": "ENST00000479608.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 7761,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000479608.5",
"gene_hgnc_id": 18037,
"gene_symbol": "ARID2",
"hgvs_c": "n.*3060_*3062delCGGinsGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514783.1",
"strand": true,
"transcript": "ENST00000479608.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1835,
"aa_ref": "R",
"aa_start": 1504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9394,
"cdna_start": 5437,
"cds_end": null,
"cds_length": 5508,
"cds_start": 4510,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851072.1",
"gene_hgnc_id": 18037,
"gene_symbol": "ARID2",
"hgvs_c": "c.4510_4512delCGGinsGGA",
"hgvs_p": "p.Arg1504Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521133.1",
"strand": true,
"transcript": "ENST00000851072.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1788,
"aa_ref": "R",
"aa_start": 1504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5691,
"cdna_start": 4641,
"cds_end": null,
"cds_length": 5367,
"cds_start": 4510,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001347839.2",
"gene_hgnc_id": 18037,
"gene_symbol": "ARID2",
"hgvs_c": "c.4510_4512delCGGinsGGA",
"hgvs_p": "p.Arg1504Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334768.1",
"strand": true,
"transcript": "NM_001347839.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1779,
"aa_ref": "R",
"aa_start": 1448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5709,
"cdna_start": 4494,
"cds_end": null,
"cds_length": 5340,
"cds_start": 4342,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859902.1",
"gene_hgnc_id": 18037,
"gene_symbol": "ARID2",
"hgvs_c": "c.4342_4344delCGGinsGGA",
"hgvs_p": "p.Arg1448Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529961.1",
"strand": true,
"transcript": "ENST00000859902.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1779,
"aa_ref": "R",
"aa_start": 1448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5672,
"cdna_start": 4492,
"cds_end": null,
"cds_length": 5340,
"cds_start": 4342,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956309.1",
"gene_hgnc_id": 18037,
"gene_symbol": "ARID2",
"hgvs_c": "c.4342_4344delCGGinsGGA",
"hgvs_p": "p.Arg1448Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626368.1",
"strand": true,
"transcript": "ENST00000956309.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1626,
"aa_ref": "R",
"aa_start": 1504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5110,
"cdna_start": 4641,
"cds_end": null,
"cds_length": 4881,
"cds_start": 4510,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047428489.1",
"gene_hgnc_id": 18037,
"gene_symbol": "ARID2",
"hgvs_c": "c.4510_4512delCGGinsGGA",
"hgvs_p": "p.Arg1504Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284445.1",
"strand": true,
"transcript": "XM_047428489.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 479,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1800,
"cdna_start": null,
"cds_end": null,
"cds_length": 1440,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859903.1",
"gene_hgnc_id": 18037,
"gene_symbol": "ARID2",
"hgvs_c": "c.706-8168_706-8166delCGGinsGGA",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529962.1",
"strand": true,
"transcript": "ENST00000859903.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 18037,
"gene_symbol": "ARID2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.36,
"pos": 45852633,
"ref": "CGG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_152641.4"
}
]
}