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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: 17-55030558-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=55030558&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 55030558,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000376352.6",
"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": 18,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.667-610A>T",
"hgvs_p": null,
"transcript": "NM_178509.6",
"protein_id": "NP_848604.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 553,
"cds_start": -4,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15590,
"mane_select": "ENST00000376352.6",
"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": 18,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.667-610A>T",
"hgvs_p": null,
"transcript": "ENST00000376352.6",
"protein_id": "ENSP00000365530.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 553,
"cds_start": -4,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15590,
"mane_select": "NM_178509.6",
"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": 17,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.667-610A>T",
"hgvs_p": null,
"transcript": "ENST00000434978.6",
"protein_id": "ENSP00000391087.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 531,
"cds_start": -4,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2807,
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.442-610A>T",
"hgvs_p": null,
"transcript": "ENST00000398391.6",
"protein_id": "ENSP00000381427.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": -4,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2160,
"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": 18,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.673-610A>T",
"hgvs_p": null,
"transcript": "NM_001398481.1",
"protein_id": "NP_001385410.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 555,
"cds_start": -4,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15596,
"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": 17,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.667-610A>T",
"hgvs_p": null,
"transcript": "NM_001398483.1",
"protein_id": "NP_001385412.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 496,
"cds_start": -4,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3558,
"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": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.667-610A>T",
"hgvs_p": null,
"transcript": "NM_001398482.1",
"protein_id": "NP_001385411.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 320,
"cds_start": -4,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2323,
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.667-610A>T",
"hgvs_p": null,
"transcript": "ENST00000405898.5",
"protein_id": "ENSP00000385944.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 320,
"cds_start": -4,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2229,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.104-610A>T",
"hgvs_p": null,
"transcript": "ENST00000463234.1",
"protein_id": "ENSP00000468799.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 81,
"cds_start": -4,
"cds_end": null,
"cds_length": 246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 423,
"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": 19,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.721-610A>T",
"hgvs_p": null,
"transcript": "XM_017024410.2",
"protein_id": "XP_016879899.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 571,
"cds_start": -4,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15644,
"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": 19,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.715-610A>T",
"hgvs_p": null,
"transcript": "XM_017024411.3",
"protein_id": "XP_016879900.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 569,
"cds_start": -4,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
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"mane_select": null,
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"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": 18,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.715-610A>T",
"hgvs_p": null,
"transcript": "XM_047435713.1",
"protein_id": "XP_047291669.1",
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"cds_start": -4,
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"cdna_start": null,
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"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": 18,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.667-610A>T",
"hgvs_p": null,
"transcript": "XM_047435714.1",
"protein_id": "XP_047291670.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.673-610A>T",
"hgvs_p": null,
"transcript": "XM_047435715.1",
"protein_id": "XP_047291671.1",
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},
{
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"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 8,
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"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.667-610A>T",
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"transcript": "XM_047435716.1",
"protein_id": "XP_047291672.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.673-610A>T",
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"transcript": "XM_047435717.1",
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},
{
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"intron_variant"
],
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"exon_count": 16,
"intron_rank": 6,
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"gene_symbol": "STXBP4",
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"hgvs_c": "c.490-610A>T",
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"transcript": "XM_017024413.2",
"protein_id": "XP_016879902.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.721-610A>T",
"hgvs_p": null,
"transcript": "XM_017024414.3",
"protein_id": "XP_016879903.1",
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"cdna_start": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "c.673-610A>T",
"hgvs_p": null,
"transcript": "XM_006721797.5",
"protein_id": "XP_006721860.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "n.874-610A>T",
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"transcript": "XR_007065289.1",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"hgvs_c": "n.-249A>T",
"hgvs_p": null,
"transcript": "ENST00000468837.1",
"protein_id": null,
"transcript_support_level": 2,
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"cdna_length": 690,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "STXBP4",
"gene_hgnc_id": 19694,
"dbsnp": "rs1484777",
"frequency_reference_population": 0.0000065695253,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000656953,
"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": -0.8199999928474426,
"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": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.778,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000376352.6",
"gene_symbol": "STXBP4",
"hgnc_id": 19694,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.667-610A>T",
"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
}