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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: 1-202604508-TCTC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=202604508&ref=TCTC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 202604508,
"ref": "TCTC",
"alt": "T",
"effect": "conservative_inframe_deletion",
"transcript": "NM_177402.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT2",
"gene_hgnc_id": 11510,
"hgvs_c": "c.289_291delGAG",
"hgvs_p": "p.Glu97del",
"transcript": "NM_177402.5",
"protein_id": "NP_796376.2",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 419,
"cds_start": 289,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367268.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_177402.5"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT2",
"gene_hgnc_id": 11510,
"hgvs_c": "c.289_291delGAG",
"hgvs_p": "p.Glu97del",
"transcript": "ENST00000367268.5",
"protein_id": "ENSP00000356237.4",
"transcript_support_level": 1,
"aa_start": 97,
"aa_end": null,
"aa_length": 419,
"cds_start": 289,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_177402.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367268.5"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT2",
"gene_hgnc_id": 11510,
"hgvs_c": "c.340_342delGAG",
"hgvs_p": "p.Glu114del",
"transcript": "ENST00000930883.1",
"protein_id": "ENSP00000600942.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 439,
"cds_start": 340,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930883.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT2",
"gene_hgnc_id": 11510,
"hgvs_c": "c.289_291delGAG",
"hgvs_p": "p.Glu97del",
"transcript": "ENST00000899895.1",
"protein_id": "ENSP00000569954.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 422,
"cds_start": 289,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899895.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT2",
"gene_hgnc_id": 11510,
"hgvs_c": "c.289_291delGAG",
"hgvs_p": "p.Glu97del",
"transcript": "ENST00000899896.1",
"protein_id": "ENSP00000569955.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 422,
"cds_start": 289,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899896.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT2",
"gene_hgnc_id": 11510,
"hgvs_c": "c.289_291delGAG",
"hgvs_p": "p.Glu97del",
"transcript": "ENST00000930882.1",
"protein_id": "ENSP00000600941.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 422,
"cds_start": 289,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930882.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT2",
"gene_hgnc_id": 11510,
"hgvs_c": "c.289_291delGAG",
"hgvs_p": "p.Glu97del",
"transcript": "NM_001136504.1",
"protein_id": "NP_001129976.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 419,
"cds_start": 289,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136504.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT2",
"gene_hgnc_id": 11510,
"hgvs_c": "c.289_291delGAG",
"hgvs_p": "p.Glu97del",
"transcript": "ENST00000367267.5",
"protein_id": "ENSP00000356236.1",
"transcript_support_level": 2,
"aa_start": 97,
"aa_end": null,
"aa_length": 419,
"cds_start": 289,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367267.5"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT2",
"gene_hgnc_id": 11510,
"hgvs_c": "c.460_462delGAG",
"hgvs_p": "p.Glu154del",
"transcript": "XM_017000309.3",
"protein_id": "XP_016855798.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 479,
"cds_start": 460,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000309.3"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT2",
"gene_hgnc_id": 11510,
"hgvs_c": "c.460_462delGAG",
"hgvs_p": "p.Glu154del",
"transcript": "XM_017000310.3",
"protein_id": "XP_016855799.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 476,
"cds_start": 460,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000310.3"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT2",
"gene_hgnc_id": 11510,
"hgvs_c": "c.289_291delGAG",
"hgvs_p": "p.Glu97del",
"transcript": "XM_011509192.3",
"protein_id": "XP_011507494.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 422,
"cds_start": 289,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509192.3"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT2",
"gene_hgnc_id": 11510,
"hgvs_c": "c.289_291delGAG",
"hgvs_p": "p.Glu97del",
"transcript": "XM_017000311.3",
"protein_id": "XP_016855800.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 422,
"cds_start": 289,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000311.3"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT2",
"gene_hgnc_id": 11510,
"hgvs_c": "c.289_291delGAG",
"hgvs_p": "p.Glu97del",
"transcript": "XM_017000312.2",
"protein_id": "XP_016855801.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 422,
"cds_start": 289,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000312.2"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT2",
"gene_hgnc_id": 11510,
"hgvs_c": "c.289_291delGAG",
"hgvs_p": "p.Glu97del",
"transcript": "XM_017000313.2",
"protein_id": "XP_016855802.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 419,
"cds_start": 289,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000313.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SYT2-AS1",
"gene_hgnc_id": 40572,
"hgvs_c": "n.68+176_68+178delCCT",
"hgvs_p": null,
"transcript": "ENST00000428573.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000428573.1"
}
],
"gene_symbol": "SYT2",
"gene_hgnc_id": 11510,
"dbsnp": "rs1393433407",
"frequency_reference_population": 0.00000342023,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342023,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 6.048,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_177402.5",
"gene_symbol": "SYT2",
"hgnc_id": 11510,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.289_291delGAG",
"hgvs_p": "p.Glu97del"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000428573.1",
"gene_symbol": "SYT2-AS1",
"hgnc_id": 40572,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.68+176_68+178delCCT",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}