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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: 8-88579854-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=88579854&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 88579854,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000518631.1",
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000253553",
"gene_hgnc_id": null,
"hgvs_c": "n.214+37024G>T",
"hgvs_p": null,
"transcript": "ENST00000518631.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 576,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000253553",
"gene_hgnc_id": null,
"hgvs_c": "n.156+37095G>T",
"hgvs_p": null,
"transcript": "ENST00000520312.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 554,
"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": "ENSG00000253553",
"gene_hgnc_id": null,
"hgvs_c": "n.310+37044G>T",
"hgvs_p": null,
"transcript": "ENST00000521433.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 579,
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000253553",
"gene_hgnc_id": null,
"hgvs_c": "n.83+37044G>T",
"hgvs_p": null,
"transcript": "ENST00000649573.1",
"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": 2561,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000253553",
"gene_hgnc_id": null,
"hgvs_c": "n.86+37044G>T",
"hgvs_p": null,
"transcript": "ENST00000653184.1",
"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": 924,
"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": "ENSG00000253553",
"gene_hgnc_id": null,
"hgvs_c": "n.285-120438G>T",
"hgvs_p": null,
"transcript": "ENST00000658256.1",
"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": 3514,
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000253553",
"gene_hgnc_id": null,
"hgvs_c": "n.556+37044G>T",
"hgvs_p": null,
"transcript": "ENST00000658283.1",
"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_length": 4933,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000253553",
"gene_hgnc_id": null,
"hgvs_c": "n.118+37024G>T",
"hgvs_p": null,
"transcript": "ENST00000659668.1",
"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": 2815,
"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": "ENSG00000253553",
"gene_hgnc_id": null,
"hgvs_c": "n.324+37044G>T",
"hgvs_p": null,
"transcript": "ENST00000665922.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 1715,
"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,
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"exon_count": 6,
"intron_rank": 3,
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"gene_symbol": "ENSG00000253553",
"gene_hgnc_id": null,
"hgvs_c": "n.336+37044G>T",
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"transcript": "ENST00000667081.1",
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "ENSG00000253553",
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"hgvs_c": "n.145+37044G>T",
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"transcript": "ENST00000670095.1",
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},
{
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],
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},
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],
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],
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},
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],
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},
{
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],
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},
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],
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],
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},
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],
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"gene_symbol": "LOC105375630",
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"hgvs_c": "n.330+37024G>T",
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},
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],
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"intron_rank": 2,
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"gene_symbol": "LOC105375629",
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},
{
"aa_ref": null,
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],
"gene_symbol": "ENSG00000253553",
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"hom_count_reference_population": 5338,
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"gnomad_genomes_af": 0.24352,
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"gnomad_genomes_ac": 36997,
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"gnomad_genomes_homalt": 5338,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1.1100000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": null,
"splice_source_selected": null,
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -1.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.938,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
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"apogee2_prediction": null,
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"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000518631.1",
"gene_symbol": "ENSG00000253553",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.214+37024G>T",
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},
{
"score": -12,
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000772609.1",
"gene_symbol": "ENSG00000300537",
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"effects": [
"intron_variant"
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"inheritance_mode": "",
"hgvs_c": "n.121-13742C>A",
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},
{
"score": -12,
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_928383.4",
"gene_symbol": "LOC105375629",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.84+8537C>A",
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},
{
"score": -12,
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"criteria": [
"BP4_Strong",
"BA1"
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"verdict": "Benign",
"transcript": "XR_001745653.3",
"gene_symbol": "LOC105375630",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.355+37044G>T",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}