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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: 1-26780157-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=26780157&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 26780157,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000324856.13",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "c.6259G>C",
"hgvs_p": "p.Gly2087Arg",
"transcript": "NM_006015.6",
"protein_id": "NP_006006.3",
"transcript_support_level": null,
"aa_start": 2087,
"aa_end": null,
"aa_length": 2285,
"cds_start": 6259,
"cds_end": null,
"cds_length": 6858,
"cdna_start": 6648,
"cdna_end": null,
"cdna_length": 8595,
"mane_select": "ENST00000324856.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "c.6259G>C",
"hgvs_p": "p.Gly2087Arg",
"transcript": "ENST00000324856.13",
"protein_id": "ENSP00000320485.7",
"transcript_support_level": 1,
"aa_start": 2087,
"aa_end": null,
"aa_length": 2285,
"cds_start": 6259,
"cds_end": null,
"cds_length": 6858,
"cdna_start": 6648,
"cdna_end": null,
"cdna_length": 8595,
"mane_select": "NM_006015.6",
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "n.*1191G>C",
"hgvs_p": null,
"transcript": "ENST00000532781.1",
"protein_id": "ENSP00000436692.1",
"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": 2583,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "n.*1191G>C",
"hgvs_p": null,
"transcript": "ENST00000532781.1",
"protein_id": "ENSP00000436692.1",
"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": 2583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "c.6229G>C",
"hgvs_p": "p.Gly2077Arg",
"transcript": "ENST00000850904.1",
"protein_id": "ENSP00000520984.1",
"transcript_support_level": null,
"aa_start": 2077,
"aa_end": null,
"aa_length": 2275,
"cds_start": 6229,
"cds_end": null,
"cds_length": 6828,
"cdna_start": 6618,
"cdna_end": null,
"cdna_length": 8565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "c.5608G>C",
"hgvs_p": "p.Gly1870Arg",
"transcript": "NM_139135.4",
"protein_id": "NP_624361.1",
"transcript_support_level": null,
"aa_start": 1870,
"aa_end": null,
"aa_length": 2068,
"cds_start": 5608,
"cds_end": null,
"cds_length": 6207,
"cdna_start": 5997,
"cdna_end": null,
"cdna_length": 7944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "c.5608G>C",
"hgvs_p": "p.Gly1870Arg",
"transcript": "ENST00000457599.7",
"protein_id": "ENSP00000387636.2",
"transcript_support_level": 5,
"aa_start": 1870,
"aa_end": null,
"aa_length": 2068,
"cds_start": 5608,
"cds_end": null,
"cds_length": 6207,
"cdna_start": 6848,
"cdna_end": null,
"cdna_length": 7508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "c.5113G>C",
"hgvs_p": "p.Gly1705Arg",
"transcript": "ENST00000636219.1",
"protein_id": "ENSP00000489842.1",
"transcript_support_level": 5,
"aa_start": 1705,
"aa_end": null,
"aa_length": 1903,
"cds_start": 5113,
"cds_end": null,
"cds_length": 5712,
"cdna_start": 5113,
"cdna_end": null,
"cdna_length": 7058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "c.5110G>C",
"hgvs_p": "p.Gly1704Arg",
"transcript": "ENST00000374152.7",
"protein_id": "ENSP00000363267.2",
"transcript_support_level": 5,
"aa_start": 1704,
"aa_end": null,
"aa_length": 1902,
"cds_start": 5110,
"cds_end": null,
"cds_length": 5709,
"cdna_start": 5861,
"cdna_end": null,
"cdna_length": 6460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "c.5107G>C",
"hgvs_p": "p.Gly1703Arg",
"transcript": "ENST00000430799.7",
"protein_id": "ENSP00000390317.3",
"transcript_support_level": 5,
"aa_start": 1703,
"aa_end": null,
"aa_length": 1901,
"cds_start": 5107,
"cds_end": null,
"cds_length": 5706,
"cdna_start": 5501,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "n.*1242G>C",
"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": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "n.2059G>C",
"hgvs_p": null,
"transcript": "ENST00000637788.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 3046,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "n.*1242G>C",
"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
}
],
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"dbsnp": "rs1553153748",
"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": 0.8627438545227051,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.701,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.999,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.728,
"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": 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": "ENST00000324856.13",
"gene_symbol": "ARID1A",
"hgnc_id": 11110,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.6259G>C",
"hgvs_p": "p.Gly2087Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}