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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: 1-202596805-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=202596805&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 202596805,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_177402.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT2",
"gene_hgnc_id": 11510,
"hgvs_c": "c.1212G>T",
"hgvs_p": "p.Ser404Ser",
"transcript": "NM_177402.5",
"protein_id": "NP_796376.2",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 419,
"cds_start": 1212,
"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": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT2",
"gene_hgnc_id": 11510,
"hgvs_c": "c.1212G>T",
"hgvs_p": "p.Ser404Ser",
"transcript": "ENST00000367268.5",
"protein_id": "ENSP00000356237.4",
"transcript_support_level": 1,
"aa_start": 404,
"aa_end": null,
"aa_length": 419,
"cds_start": 1212,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT2",
"gene_hgnc_id": 11510,
"hgvs_c": "c.1272G>T",
"hgvs_p": "p.Ser424Ser",
"transcript": "ENST00000930883.1",
"protein_id": "ENSP00000600942.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 439,
"cds_start": 1272,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT2",
"gene_hgnc_id": 11510,
"hgvs_c": "c.1221G>T",
"hgvs_p": "p.Ser407Ser",
"transcript": "ENST00000899895.1",
"protein_id": "ENSP00000569954.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 422,
"cds_start": 1221,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT2",
"gene_hgnc_id": 11510,
"hgvs_c": "c.1221G>T",
"hgvs_p": "p.Ser407Ser",
"transcript": "ENST00000899896.1",
"protein_id": "ENSP00000569955.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 422,
"cds_start": 1221,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT2",
"gene_hgnc_id": 11510,
"hgvs_c": "c.1221G>T",
"hgvs_p": "p.Ser407Ser",
"transcript": "ENST00000930882.1",
"protein_id": "ENSP00000600941.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 422,
"cds_start": 1221,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT2",
"gene_hgnc_id": 11510,
"hgvs_c": "c.1212G>T",
"hgvs_p": "p.Ser404Ser",
"transcript": "NM_001136504.1",
"protein_id": "NP_001129976.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 419,
"cds_start": 1212,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT2",
"gene_hgnc_id": 11510,
"hgvs_c": "c.1212G>T",
"hgvs_p": "p.Ser404Ser",
"transcript": "ENST00000367267.5",
"protein_id": "ENSP00000356236.1",
"transcript_support_level": 2,
"aa_start": 404,
"aa_end": null,
"aa_length": 419,
"cds_start": 1212,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT2",
"gene_hgnc_id": 11510,
"hgvs_c": "c.1392G>T",
"hgvs_p": "p.Ser464Ser",
"transcript": "XM_017000309.3",
"protein_id": "XP_016855798.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 479,
"cds_start": 1392,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT2",
"gene_hgnc_id": 11510,
"hgvs_c": "c.1383G>T",
"hgvs_p": "p.Ser461Ser",
"transcript": "XM_017000310.3",
"protein_id": "XP_016855799.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 476,
"cds_start": 1383,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT2",
"gene_hgnc_id": 11510,
"hgvs_c": "c.1221G>T",
"hgvs_p": "p.Ser407Ser",
"transcript": "XM_011509192.3",
"protein_id": "XP_011507494.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 422,
"cds_start": 1221,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT2",
"gene_hgnc_id": 11510,
"hgvs_c": "c.1221G>T",
"hgvs_p": "p.Ser407Ser",
"transcript": "XM_017000311.3",
"protein_id": "XP_016855800.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 422,
"cds_start": 1221,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT2",
"gene_hgnc_id": 11510,
"hgvs_c": "c.1221G>T",
"hgvs_p": "p.Ser407Ser",
"transcript": "XM_017000312.2",
"protein_id": "XP_016855801.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 422,
"cds_start": 1221,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT2",
"gene_hgnc_id": 11510,
"hgvs_c": "c.1212G>T",
"hgvs_p": "p.Ser404Ser",
"transcript": "XM_017000313.2",
"protein_id": "XP_016855802.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 419,
"cds_start": 1212,
"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"
}
],
"gene_symbol": "SYT2",
"gene_hgnc_id": 11510,
"dbsnp": "rs772139994",
"frequency_reference_population": 6.840797e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8408e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.46000000834465027,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.579,
"phylop100way_prediction": "Benign",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_177402.5",
"gene_symbol": "SYT2",
"hgnc_id": 11510,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1212G>T",
"hgvs_p": "p.Ser404Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}