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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: 8-127877125-AC-CG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=127877125&ref=AC&alt=CG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 127877125,
"ref": "AC",
"alt": "CG",
"effect": "intron_variant",
"transcript": "ENST00000521951.2",
"consequences": [
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PVT1",
"gene_hgnc_id": 9709,
"hgvs_c": "n.212-13464_212-13463delACinsCG",
"hgvs_p": null,
"transcript": "ENST00000667305.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1703,
"mane_select": "NR_190187.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PVT1",
"gene_hgnc_id": 9709,
"hgvs_c": "n.212-13464_212-13463delACinsCG",
"hgvs_p": null,
"transcript": "NR_190187.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1703,
"mane_select": "ENST00000667305.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PVT1",
"gene_hgnc_id": 9709,
"hgvs_c": "n.179-13464_179-13463delACinsCG",
"hgvs_p": null,
"transcript": "ENST00000521951.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PVT1",
"gene_hgnc_id": 9709,
"hgvs_c": "n.393-13464_393-13463delACinsCG",
"hgvs_p": null,
"transcript": "ENST00000523328.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PVT1",
"gene_hgnc_id": 9709,
"hgvs_c": "n.374-13464_374-13463delACinsCG",
"hgvs_p": null,
"transcript": "ENST00000504719.8",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PVT1",
"gene_hgnc_id": 9709,
"hgvs_c": "n.376-13464_376-13463delACinsCG",
"hgvs_p": null,
"transcript": "ENST00000517525.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PVT1",
"gene_hgnc_id": 9709,
"hgvs_c": "n.864-13464_864-13463delACinsCG",
"hgvs_p": null,
"transcript": "ENST00000517790.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PVT1",
"gene_hgnc_id": 9709,
"hgvs_c": "n.203-13464_203-13463delACinsCG",
"hgvs_p": null,
"transcript": "ENST00000518528.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PVT1",
"gene_hgnc_id": 9709,
"hgvs_c": "n.192-13464_192-13463delACinsCG",
"hgvs_p": null,
"transcript": "ENST00000519481.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1010,
"mane_select": null,
"mane_plus": null,
"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": 4,
"intron_rank": 2,
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"gene_symbol": "PVT1",
"gene_hgnc_id": 9709,
"hgvs_c": "n.367-13464_367-13463delACinsCG",
"hgvs_p": null,
"transcript": "ENST00000520913.3",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "PVT1",
"gene_hgnc_id": 9709,
"hgvs_c": "n.925-13464_925-13463delACinsCG",
"hgvs_p": null,
"transcript": "ENST00000521122.2",
"protein_id": null,
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "PVT1",
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"hgvs_c": "n.1038-13464_1038-13463delACinsCG",
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"transcript": "ENST00000522963.7",
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},
{
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],
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"gene_symbol": "PVT1",
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"hgvs_c": "n.450-13464_450-13463delACinsCG",
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"transcript": "ENST00000523068.2",
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},
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"strand": true,
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],
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"gene_symbol": "PVT1",
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"hgvs_c": "n.197-13464_197-13463delACinsCG",
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],
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},
{
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],
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"gene_symbol": "PVT1",
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"hgvs_c": "n.190-4937_190-4936delACinsCG",
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},
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],
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},
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],
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"intron_rank": 1,
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"hgvs_c": "n.308-13464_308-13463delACinsCG",
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},
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "PVT1",
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"hgvs_c": "n.199-13464_199-13463delACinsCG",
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"transcript": "ENST00000652816.1",
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],
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],
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},
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],
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"gene_symbol": "PVT1",
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"transcript": "ENST00000654091.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PVT1",
"gene_hgnc_id": 9709,
"hgvs_c": "n.225-13464_225-13463delACinsCG",
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},
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"intron_rank": 2,
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"gene_symbol": "PVT1",
"gene_hgnc_id": 9709,
"hgvs_c": "n.327-13464_327-13463delACinsCG",
"hgvs_p": null,
"transcript": "NR_186168.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PVT1",
"gene_hgnc_id": 9709,
"dbsnp": "rs35252396",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"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": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.122,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000521951.2",
"gene_symbol": "PVT1",
"hgnc_id": 9709,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.179-13464_179-13463delACinsCG",
"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
}