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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: 3-188406289-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=188406289&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 188406289,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001375462.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPP",
"gene_hgnc_id": 6679,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Pro57Ser",
"transcript": "NM_001375462.1",
"protein_id": "NP_001362391.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 612,
"cds_start": 169,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 18316,
"mane_select": "ENST00000617246.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPP",
"gene_hgnc_id": 6679,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Pro57Ser",
"transcript": "ENST00000617246.5",
"protein_id": "ENSP00000478901.1",
"transcript_support_level": 1,
"aa_start": 57,
"aa_end": null,
"aa_length": 612,
"cds_start": 169,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 18316,
"mane_select": "NM_001375462.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPP",
"gene_hgnc_id": 6679,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Pro57Ser",
"transcript": "ENST00000618621.5",
"protein_id": "ENSP00000482617.2",
"transcript_support_level": 1,
"aa_start": 57,
"aa_end": null,
"aa_length": 612,
"cds_start": 169,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 18277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPP",
"gene_hgnc_id": 6679,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Pro57Ser",
"transcript": "NM_001167671.3",
"protein_id": "NP_001161143.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 612,
"cds_start": 169,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 482,
"cdna_end": null,
"cdna_length": 18344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPP",
"gene_hgnc_id": 6679,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Pro57Ser",
"transcript": "NM_001375455.1",
"protein_id": "NP_001362384.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 612,
"cds_start": 169,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 644,
"cdna_end": null,
"cdna_length": 18506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPP",
"gene_hgnc_id": 6679,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Pro57Ser",
"transcript": "NM_001375456.1",
"protein_id": "NP_001362385.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 612,
"cds_start": 169,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 18502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPP",
"gene_hgnc_id": 6679,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Pro57Ser",
"transcript": "NM_001375457.1",
"protein_id": "NP_001362386.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 612,
"cds_start": 169,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 763,
"cdna_end": null,
"cdna_length": 18625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPP",
"gene_hgnc_id": 6679,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Pro57Ser",
"transcript": "NM_001375458.1",
"protein_id": "NP_001362387.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 612,
"cds_start": 169,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 18287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPP",
"gene_hgnc_id": 6679,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Pro57Ser",
"transcript": "NM_001375459.1",
"protein_id": "NP_001362388.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 612,
"cds_start": 169,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 18221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPP",
"gene_hgnc_id": 6679,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Pro57Ser",
"transcript": "NM_001375460.1",
"protein_id": "NP_001362389.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 612,
"cds_start": 169,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 544,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPP",
"gene_hgnc_id": 6679,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Pro57Ser",
"transcript": "NM_001375461.1",
"protein_id": "NP_001362390.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 612,
"cds_start": 169,
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"cdna_start": 488,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "LPP",
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"hgvs_c": "c.169C>T",
"hgvs_p": "p.Pro57Ser",
"transcript": "NM_001375463.1",
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"aa_start": 57,
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"cds_start": 169,
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"cdna_start": 397,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
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"intron_rank": null,
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"gene_symbol": "LPP",
"gene_hgnc_id": 6679,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Pro57Ser",
"transcript": "NM_001375464.1",
"protein_id": "NP_001362393.1",
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"cds_start": 169,
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},
{
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"strand": true,
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],
"exon_rank": 2,
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"intron_rank": null,
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"gene_symbol": "LPP",
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"hgvs_c": "c.169C>T",
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"transcript": "NM_001375465.1",
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},
{
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"protein_coding": true,
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],
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"gene_symbol": "LPP",
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"hgvs_c": "c.169C>T",
"hgvs_p": "p.Pro57Ser",
"transcript": "NM_001387663.1",
"protein_id": "NP_001374592.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 4,
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"gene_symbol": "LPP",
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"hgvs_c": "c.169C>T",
"hgvs_p": "p.Pro57Ser",
"transcript": "NM_001387664.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "LPP",
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"hgvs_c": "c.169C>T",
"hgvs_p": "p.Pro57Ser",
"transcript": "NM_001387665.1",
"protein_id": "NP_001374594.1",
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"feature": null
},
{
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"protein_coding": true,
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"consequences": [
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],
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"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "LPP",
"gene_hgnc_id": 6679,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Pro57Ser",
"transcript": "NM_001387666.1",
"protein_id": "NP_001374595.1",
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},
{
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"strand": true,
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],
"exon_rank": 4,
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"intron_rank": null,
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"gene_symbol": "LPP",
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"transcript": "NM_001387667.1",
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},
{
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],
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"gene_symbol": "LPP",
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"transcript": "NM_001387668.1",
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},
{
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],
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
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"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "LPP",
"gene_hgnc_id": 6679,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Pro57Ser",
"transcript": "NM_001387670.1",
"protein_id": "NP_001374599.1",
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"cdna_start": 274,
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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": [
"missense_variant"
],
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"intron_rank": null,
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"gene_symbol": "LPP",
"gene_hgnc_id": 6679,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Pro57Ser",
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.368,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8439,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.395,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001375462.1",
"gene_symbol": "LPP",
"hgnc_id": 6679,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Pro57Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}