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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: 9-133772008-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=133772008&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 133772008,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001134398.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV2",
"gene_hgnc_id": 12658,
"hgvs_c": "c.2174A>G",
"hgvs_p": "p.Lys725Arg",
"transcript": "NM_001134398.2",
"protein_id": "NP_001127870.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 878,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 2220,
"cdna_end": null,
"cdna_length": 4851,
"mane_select": "ENST00000371850.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV2",
"gene_hgnc_id": 12658,
"hgvs_c": "c.2174A>G",
"hgvs_p": "p.Lys725Arg",
"transcript": "ENST00000371850.8",
"protein_id": "ENSP00000360916.3",
"transcript_support_level": 1,
"aa_start": 725,
"aa_end": null,
"aa_length": 878,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 2220,
"cdna_end": null,
"cdna_length": 4851,
"mane_select": "NM_001134398.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV2",
"gene_hgnc_id": 12658,
"hgvs_c": "c.2144A>G",
"hgvs_p": "p.Lys715Arg",
"transcript": "ENST00000406606.7",
"protein_id": "ENSP00000385362.3",
"transcript_support_level": 1,
"aa_start": 715,
"aa_end": null,
"aa_length": 839,
"cds_start": 2144,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 2147,
"cdna_end": null,
"cdna_length": 4691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV2",
"gene_hgnc_id": 12658,
"hgvs_c": "c.2144A>G",
"hgvs_p": "p.Lys715Arg",
"transcript": "NM_001411028.1",
"protein_id": "NP_001397957.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 868,
"cds_start": 2144,
"cds_end": null,
"cds_length": 2607,
"cdna_start": 2190,
"cdna_end": null,
"cdna_length": 4821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV2",
"gene_hgnc_id": 12658,
"hgvs_c": "c.2144A>G",
"hgvs_p": "p.Lys715Arg",
"transcript": "ENST00000371851.1",
"protein_id": "ENSP00000360917.1",
"transcript_support_level": 5,
"aa_start": 715,
"aa_end": null,
"aa_length": 868,
"cds_start": 2144,
"cds_end": null,
"cds_length": 2607,
"cdna_start": 2470,
"cdna_end": null,
"cdna_length": 5101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV2",
"gene_hgnc_id": 12658,
"hgvs_c": "c.2144A>G",
"hgvs_p": "p.Lys715Arg",
"transcript": "NM_003371.4",
"protein_id": "NP_003362.2",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 839,
"cds_start": 2144,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 2190,
"cdna_end": null,
"cdna_length": 4734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV2",
"gene_hgnc_id": 12658,
"hgvs_c": "c.2384A>G",
"hgvs_p": "p.Lys795Arg",
"transcript": "XM_047423845.1",
"protein_id": "XP_047279801.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 919,
"cds_start": 2384,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2430,
"cdna_end": null,
"cdna_length": 4974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV2",
"gene_hgnc_id": 12658,
"hgvs_c": "c.2228A>G",
"hgvs_p": "p.Lys743Arg",
"transcript": "XM_017015108.2",
"protein_id": "XP_016870597.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 896,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 2274,
"cdna_end": null,
"cdna_length": 4905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV2",
"gene_hgnc_id": 12658,
"hgvs_c": "c.2213A>G",
"hgvs_p": "p.Lys738Arg",
"transcript": "XM_017015109.2",
"protein_id": "XP_016870598.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 891,
"cds_start": 2213,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 2259,
"cdna_end": null,
"cdna_length": 4890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV2",
"gene_hgnc_id": 12658,
"hgvs_c": "c.2159A>G",
"hgvs_p": "p.Lys720Arg",
"transcript": "XM_017015110.2",
"protein_id": "XP_016870599.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 873,
"cds_start": 2159,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 2205,
"cdna_end": null,
"cdna_length": 4836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "VAV2",
"gene_hgnc_id": 12658,
"dbsnp": "rs765866512",
"frequency_reference_population": 0.000009799694,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000979969,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23112091422080994,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.134,
"revel_prediction": "Benign",
"alphamissense_score": 0.1258,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.488,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001134398.2",
"gene_symbol": "VAV2",
"hgnc_id": 12658,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2174A>G",
"hgvs_p": "p.Lys725Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}