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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: 1-26773392-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=26773392&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 26773392,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000324856.13",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "c.3762C>T",
"hgvs_p": "p.Gly1254Gly",
"transcript": "NM_006015.6",
"protein_id": "NP_006006.3",
"transcript_support_level": null,
"aa_start": 1254,
"aa_end": null,
"aa_length": 2285,
"cds_start": 3762,
"cds_end": null,
"cds_length": 6858,
"cdna_start": 4151,
"cdna_end": null,
"cdna_length": 8595,
"mane_select": "ENST00000324856.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "c.3762C>T",
"hgvs_p": "p.Gly1254Gly",
"transcript": "ENST00000324856.13",
"protein_id": "ENSP00000320485.7",
"transcript_support_level": 1,
"aa_start": 1254,
"aa_end": null,
"aa_length": 2285,
"cds_start": 3762,
"cds_end": null,
"cds_length": 6858,
"cdna_start": 4151,
"cdna_end": null,
"cdna_length": 8595,
"mane_select": "NM_006015.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "c.3732C>T",
"hgvs_p": "p.Gly1244Gly",
"transcript": "ENST00000850904.1",
"protein_id": "ENSP00000520984.1",
"transcript_support_level": null,
"aa_start": 1244,
"aa_end": null,
"aa_length": 2275,
"cds_start": 3732,
"cds_end": null,
"cds_length": 6828,
"cdna_start": 4121,
"cdna_end": null,
"cdna_length": 8565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "c.3762C>T",
"hgvs_p": "p.Gly1254Gly",
"transcript": "NM_139135.4",
"protein_id": "NP_624361.1",
"transcript_support_level": null,
"aa_start": 1254,
"aa_end": null,
"aa_length": 2068,
"cds_start": 3762,
"cds_end": null,
"cds_length": 6207,
"cdna_start": 4151,
"cdna_end": null,
"cdna_length": 7944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "c.3762C>T",
"hgvs_p": "p.Gly1254Gly",
"transcript": "ENST00000457599.7",
"protein_id": "ENSP00000387636.2",
"transcript_support_level": 5,
"aa_start": 1254,
"aa_end": null,
"aa_length": 2068,
"cds_start": 3762,
"cds_end": null,
"cds_length": 6207,
"cdna_start": 5002,
"cdna_end": null,
"cdna_length": 7508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "c.2616C>T",
"hgvs_p": "p.Gly872Gly",
"transcript": "ENST00000636219.1",
"protein_id": "ENSP00000489842.1",
"transcript_support_level": 5,
"aa_start": 872,
"aa_end": null,
"aa_length": 1903,
"cds_start": 2616,
"cds_end": null,
"cds_length": 5712,
"cdna_start": 2616,
"cdna_end": null,
"cdna_length": 7058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "c.2613C>T",
"hgvs_p": "p.Gly871Gly",
"transcript": "ENST00000374152.7",
"protein_id": "ENSP00000363267.2",
"transcript_support_level": 5,
"aa_start": 871,
"aa_end": null,
"aa_length": 1902,
"cds_start": 2613,
"cds_end": null,
"cds_length": 5709,
"cdna_start": 3364,
"cdna_end": null,
"cdna_length": 6460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "c.2610C>T",
"hgvs_p": "p.Gly870Gly",
"transcript": "ENST00000430799.7",
"protein_id": "ENSP00000390317.3",
"transcript_support_level": 5,
"aa_start": 870,
"aa_end": null,
"aa_length": 1901,
"cds_start": 2610,
"cds_end": null,
"cds_length": 5706,
"cdna_start": 3004,
"cdna_end": null,
"cdna_length": 6521,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "n.69C>T",
"hgvs_p": null,
"transcript": "ENST00000466382.2",
"protein_id": "ENSP00000432368.1",
"transcript_support_level": 2,
"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": 2699,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "n.72C>T",
"hgvs_p": null,
"transcript": "ENST00000636072.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 1128,
"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": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "n.66C>T",
"hgvs_p": null,
"transcript": "ENST00000636794.2",
"protein_id": "ENSP00000520985.1",
"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": 1518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"dbsnp": "rs138814830",
"frequency_reference_population": 0.0012871155,
"hom_count_reference_population": 1,
"allele_count_reference_population": 2075,
"gnomad_exomes_af": 0.00136165,
"gnomad_genomes_af": 0.000571849,
"gnomad_exomes_ac": 1988,
"gnomad_genomes_ac": 87,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1080000028014183,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.108,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.343,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000324856.13",
"gene_symbol": "ARID1A",
"hgnc_id": 11110,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3762C>T",
"hgvs_p": "p.Gly1254Gly"
}
],
"clinvar_disease": " autosomal dominant 14,ARID1A-related disorder,Intellectual disability,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:4",
"phenotype_combined": "not specified|not provided|ARID1A-related disorder|Intellectual disability, autosomal dominant 14",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}