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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: 10-94332364-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=94332364&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 94332364,
"ref": "G",
"alt": "A",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000371380.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.*4421G>A",
"hgvs_p": null,
"transcript": "NM_016341.4",
"protein_id": "NP_057425.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2302,
"cds_start": -4,
"cds_end": null,
"cds_length": 6909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12481,
"mane_select": "ENST00000371380.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.*4421G>A",
"hgvs_p": null,
"transcript": "ENST00000371380.8",
"protein_id": "ENSP00000360431.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2302,
"cds_start": -4,
"cds_end": null,
"cds_length": 6909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12481,
"mane_select": "NM_016341.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.*4421G>A",
"hgvs_p": null,
"transcript": "NM_001288989.2",
"protein_id": "NP_001275918.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2286,
"cds_start": -4,
"cds_end": null,
"cds_length": 6861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.*4421G>A",
"hgvs_p": null,
"transcript": "XM_006717885.5",
"protein_id": "XP_006717948.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2316,
"cds_start": -4,
"cds_end": null,
"cds_length": 6951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.*4421G>A",
"hgvs_p": null,
"transcript": "XM_017016310.3",
"protein_id": "XP_016871799.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2316,
"cds_start": -4,
"cds_end": null,
"cds_length": 6951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.*4421G>A",
"hgvs_p": null,
"transcript": "XM_047425284.1",
"protein_id": "XP_047281240.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"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": [
"3_prime_UTR_variant"
],
"exon_rank": 34,
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"exon_count": 34,
"intron_rank": null,
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"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.*4421G>A",
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"transcript": "XM_047425285.1",
"protein_id": "XP_047281241.1",
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"mane_select": null,
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"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.*4421G>A",
"hgvs_p": null,
"transcript": "XM_047425286.1",
"protein_id": "XP_047281242.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2316,
"cds_start": -4,
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"cds_length": 6951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
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"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.*4421G>A",
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"transcript": "XM_047425287.1",
"protein_id": "XP_047281243.1",
"transcript_support_level": null,
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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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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": null,
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"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": null,
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"acmg_by_gene": [
{
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000371380.8",
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"effects": [
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},
{
"score": -12,
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"BA1"
],
"verdict": "Benign",
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"effects": [
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"inheritance_mode": "AR",
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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
}