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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: 17-65536391-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=65536391&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 65536391,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000307078.10",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN2",
"gene_hgnc_id": 904,
"hgvs_c": "c.2070A>G",
"hgvs_p": "p.Pro690Pro",
"transcript": "NM_004655.4",
"protein_id": "NP_004646.3",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 843,
"cds_start": 2070,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 2385,
"cdna_end": null,
"cdna_length": 4260,
"mane_select": "ENST00000307078.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN2",
"gene_hgnc_id": 904,
"hgvs_c": "c.2070A>G",
"hgvs_p": "p.Pro690Pro",
"transcript": "ENST00000307078.10",
"protein_id": "ENSP00000302625.5",
"transcript_support_level": 1,
"aa_start": 690,
"aa_end": null,
"aa_length": 843,
"cds_start": 2070,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 2385,
"cdna_end": null,
"cdna_length": 4260,
"mane_select": "NM_004655.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN2",
"gene_hgnc_id": 904,
"hgvs_c": "c.1875A>G",
"hgvs_p": "p.Pro625Pro",
"transcript": "ENST00000375702.5",
"protein_id": "ENSP00000364854.5",
"transcript_support_level": 1,
"aa_start": 625,
"aa_end": null,
"aa_length": 778,
"cds_start": 1875,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 1984,
"cdna_end": null,
"cdna_length": 2541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN2",
"gene_hgnc_id": 904,
"hgvs_c": "c.1875A>G",
"hgvs_p": "p.Pro625Pro",
"transcript": "NM_001363813.1",
"protein_id": "NP_001350742.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 778,
"cds_start": 1875,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 2190,
"cdna_end": null,
"cdna_length": 4065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN2",
"gene_hgnc_id": 904,
"hgvs_c": "c.1875A>G",
"hgvs_p": "p.Pro625Pro",
"transcript": "ENST00000618960.4",
"protein_id": "ENSP00000478916.1",
"transcript_support_level": 5,
"aa_start": 625,
"aa_end": null,
"aa_length": 778,
"cds_start": 1875,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 2189,
"cdna_end": null,
"cdna_length": 4060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN2",
"gene_hgnc_id": 904,
"hgvs_c": "c.2070A>G",
"hgvs_p": "p.Pro690Pro",
"transcript": "XM_011525319.3",
"protein_id": "XP_011523621.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 843,
"cds_start": 2070,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 2539,
"cdna_end": null,
"cdna_length": 4414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN2",
"gene_hgnc_id": 904,
"hgvs_c": "c.2070A>G",
"hgvs_p": "p.Pro690Pro",
"transcript": "XM_011525320.2",
"protein_id": "XP_011523622.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 843,
"cds_start": 2070,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 2550,
"cdna_end": null,
"cdna_length": 4425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN2",
"gene_hgnc_id": 904,
"hgvs_c": "c.2070A>G",
"hgvs_p": "p.Pro690Pro",
"transcript": "XM_011525321.3",
"protein_id": "XP_011523623.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 843,
"cds_start": 2070,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 2988,
"cdna_end": null,
"cdna_length": 4863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN2",
"gene_hgnc_id": 904,
"hgvs_c": "c.2070A>G",
"hgvs_p": "p.Pro690Pro",
"transcript": "XM_017025192.2",
"protein_id": "XP_016880681.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 843,
"cds_start": 2070,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 2413,
"cdna_end": null,
"cdna_length": 4288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN2",
"gene_hgnc_id": 904,
"hgvs_c": "c.2070A>G",
"hgvs_p": "p.Pro690Pro",
"transcript": "XM_047436870.1",
"protein_id": "XP_047292826.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 843,
"cds_start": 2070,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 2270,
"cdna_end": null,
"cdna_length": 4145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN2",
"gene_hgnc_id": 904,
"hgvs_c": "c.1875A>G",
"hgvs_p": "p.Pro625Pro",
"transcript": "XM_017025193.2",
"protein_id": "XP_016880682.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 778,
"cds_start": 1875,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 2355,
"cdna_end": null,
"cdna_length": 4230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN2",
"gene_hgnc_id": 904,
"hgvs_c": "c.1875A>G",
"hgvs_p": "p.Pro625Pro",
"transcript": "XM_047436871.1",
"protein_id": "XP_047292827.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 778,
"cds_start": 1875,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 2793,
"cdna_end": null,
"cdna_length": 4668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN2",
"gene_hgnc_id": 904,
"hgvs_c": "c.1875A>G",
"hgvs_p": "p.Pro625Pro",
"transcript": "XM_047436872.1",
"protein_id": "XP_047292828.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 778,
"cds_start": 1875,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 2075,
"cdna_end": null,
"cdna_length": 3950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN2",
"gene_hgnc_id": 904,
"hgvs_c": "c.1875A>G",
"hgvs_p": "p.Pro625Pro",
"transcript": "XM_047436873.1",
"protein_id": "XP_047292829.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 778,
"cds_start": 1875,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 2344,
"cdna_end": null,
"cdna_length": 4219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN2",
"gene_hgnc_id": 904,
"hgvs_c": "c.1875A>G",
"hgvs_p": "p.Pro625Pro",
"transcript": "XM_047436874.1",
"protein_id": "XP_047292830.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 778,
"cds_start": 1875,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 2196,
"cdna_end": null,
"cdna_length": 4071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN2",
"gene_hgnc_id": 904,
"hgvs_c": "n.292A>G",
"hgvs_p": null,
"transcript": "ENST00000578251.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AXIN2",
"gene_hgnc_id": 904,
"dbsnp": "rs748402111",
"frequency_reference_population": 0.000013015604,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000136853,
"gnomad_genomes_af": 0.00000657765,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6299999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.636,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000307078.10",
"gene_symbol": "AXIN2",
"hgnc_id": 904,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2070A>G",
"hgvs_p": "p.Pro690Pro"
}
],
"clinvar_disease": "Hereditary cancer-predisposing syndrome,Oligodontia-cancer predisposition syndrome",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "Oligodontia-cancer predisposition syndrome|Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}