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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: 11-82870545-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=82870545&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 82870545,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000313010.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.169-10428G>T",
"hgvs_p": null,
"transcript": "NM_005040.4",
"protein_id": "NP_005031.1",
"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": 3489,
"mane_select": "ENST00000313010.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.169-10428G>T",
"hgvs_p": null,
"transcript": "ENST00000313010.8",
"protein_id": "ENSP00000317362.3",
"transcript_support_level": 1,
"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": 3489,
"mane_select": "NM_005040.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.232-10428G>T",
"hgvs_p": null,
"transcript": "NM_199418.4",
"protein_id": "NP_955450.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 517,
"cds_start": -4,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.232-10428G>T",
"hgvs_p": null,
"transcript": "ENST00000393399.6",
"protein_id": "ENSP00000377055.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 517,
"cds_start": -4,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.7-10428G>T",
"hgvs_p": null,
"transcript": "ENST00000532809.2",
"protein_id": "ENSP00000437169.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 442,
"cds_start": -4,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.-6-17267G>T",
"hgvs_p": null,
"transcript": "NM_001319214.2",
"protein_id": "NP_001306143.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": -4,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.-147-10428G>T",
"hgvs_p": null,
"transcript": "ENST00000531801.6",
"protein_id": "ENSP00000432004.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": -4,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.-147-10428G>T",
"hgvs_p": null,
"transcript": "ENST00000679387.1",
"protein_id": "ENSP00000506058.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": -4,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.-147-10428G>T",
"hgvs_p": null,
"transcript": "ENST00000679623.1",
"protein_id": "ENSP00000506508.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": -4,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
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"cdna_length": 3318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
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"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.-147-10428G>T",
"hgvs_p": null,
"transcript": "ENST00000680566.1",
"protein_id": "ENSP00000505064.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 391,
"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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 3,
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"gene_symbol": "PRCP",
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"hgvs_c": "c.-147-10428G>T",
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"transcript": "ENST00000681637.1",
"protein_id": "ENSP00000506101.1",
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},
{
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],
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"gene_symbol": "PRCP",
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},
{
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],
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"gene_symbol": "PRCP",
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"hgvs_c": "c.-6-17267G>T",
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"transcript": "ENST00000534631.5",
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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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"transcript": "ENST00000534396.5",
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},
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],
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"transcript": "ENST00000533126.1",
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},
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],
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],
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},
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],
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"gene_symbol": "PRCP",
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},
{
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"consequences": [
"intron_variant"
],
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"exon_count": 8,
"intron_rank": 1,
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"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "n.226-10428G>T",
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},
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"protein_coding": false,
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"consequences": [
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],
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},
{
"aa_ref": null,
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],
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}
],
"gene_symbol": "PRCP",
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"dbsnp": "rs3750929",
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"hom_count_reference_population": 0,
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"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000197296,
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"gnomad_genomes_ac": 3,
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"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.824,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"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": "ENST00000313010.8",
"gene_symbol": "PRCP",
"hgnc_id": 9344,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.169-10428G>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
}