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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: 3-121366091-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=121366091&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 121366091,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000471454.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.2177-12625T>C",
"hgvs_p": null,
"transcript": "NM_001308330.2",
"protein_id": "NP_001295259.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1162,
"cds_start": -4,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9291,
"mane_select": "ENST00000471454.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.2177-12625T>C",
"hgvs_p": null,
"transcript": "ENST00000471454.6",
"protein_id": "ENSP00000420019.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1162,
"cds_start": -4,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9291,
"mane_select": "NM_001308330.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.2249-12625T>C",
"hgvs_p": null,
"transcript": "ENST00000273666.10",
"protein_id": "ENSP00000273666.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1186,
"cds_start": -4,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.2249-12625T>C",
"hgvs_p": null,
"transcript": "NM_001348343.2",
"protein_id": "NP_001335272.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1186,
"cds_start": -4,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.2249-12625T>C",
"hgvs_p": null,
"transcript": "NM_014980.3",
"protein_id": "NP_055795.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1186,
"cds_start": -4,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.2249-12625T>C",
"hgvs_p": null,
"transcript": "ENST00000707001.1",
"protein_id": "ENSP00000516710.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1186,
"cds_start": -4,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.2177-12625T>C",
"hgvs_p": null,
"transcript": "NM_001348344.2",
"protein_id": "NP_001335273.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1162,
"cds_start": -4,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.2177-12625T>C",
"hgvs_p": null,
"transcript": "NM_001348345.2",
"protein_id": "NP_001335274.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1162,
"cds_start": -4,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.2249-15202T>C",
"hgvs_p": null,
"transcript": "ENST00000471262.1",
"protein_id": "ENSP00000420167.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1128,
"cds_start": -4,
"cds_end": null,
"cds_length": 3388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.2249-12625T>C",
"hgvs_p": null,
"transcript": "ENST00000492541.5",
"protein_id": "ENSP00000420666.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1026,
"cds_start": -4,
"cds_end": null,
"cds_length": 3081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.2177-12625T>C",
"hgvs_p": null,
"transcript": "ENST00000472879.5",
"protein_id": "ENSP00000419627.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1002,
"cds_start": -4,
"cds_end": null,
"cds_length": 3009,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.2342-15202T>C",
"hgvs_p": null,
"transcript": "ENST00000497029.5",
"protein_id": "ENSP00000420287.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1000,
"cds_start": -4,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
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"cdna_length": 3036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "n.2515-12625T>C",
"hgvs_p": null,
"transcript": "NR_145516.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 9491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.2249-12625T>C",
"hgvs_p": null,
"transcript": "XM_006713825.4",
"protein_id": "XP_006713888.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1186,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.1688-12625T>C",
"hgvs_p": null,
"transcript": "XM_047449249.1",
"protein_id": "XP_047305205.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 999,
"cds_start": -4,
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"cds_length": 3000,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.797-12625T>C",
"hgvs_p": null,
"transcript": "XM_011513332.2",
"protein_id": "XP_011511634.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "n.2419-12625T>C",
"hgvs_p": null,
"transcript": "XR_001740373.2",
"protein_id": null,
"transcript_support_level": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "n.2491-12625T>C",
"hgvs_p": null,
"transcript": "XR_924217.3",
"protein_id": null,
"transcript_support_level": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2523,
"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"dbsnp": "rs35827958",
"frequency_reference_population": 0.033765484,
"hom_count_reference_population": 125,
"allele_count_reference_population": 5136,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0337655,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 5136,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 125,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"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": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.114,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000471454.6",
"gene_symbol": "STXBP5L",
"hgnc_id": 30757,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2177-12625T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}