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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: 12-123142435-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=123142435&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 123142435,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000320201.10",
"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": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.-200+8318G>C",
"hgvs_p": null,
"transcript": "NM_020845.3",
"protein_id": "NP_065896.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1349,
"cds_start": -4,
"cds_end": null,
"cds_length": 4050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7134,
"mane_select": "ENST00000320201.10",
"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": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.-200+8318G>C",
"hgvs_p": null,
"transcript": "ENST00000320201.10",
"protein_id": "ENSP00000322218.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1349,
"cds_start": -4,
"cds_end": null,
"cds_length": 4050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7134,
"mane_select": "NM_020845.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.-915G>C",
"hgvs_p": null,
"transcript": "XM_047429213.1",
"protein_id": "XP_047285169.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1295,
"cds_start": -4,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7981,
"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": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.-200+8318G>C",
"hgvs_p": null,
"transcript": "NM_001300801.2",
"protein_id": "NP_001287730.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1343,
"cds_start": -4,
"cds_end": null,
"cds_length": 4032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7116,
"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": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.-200+8282G>C",
"hgvs_p": null,
"transcript": "NM_001384668.1",
"protein_id": "NP_001371597.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1343,
"cds_start": -4,
"cds_end": null,
"cds_length": 4032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7152,
"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": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.-200+8318G>C",
"hgvs_p": null,
"transcript": "NM_001384661.1",
"protein_id": "NP_001371590.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1295,
"cds_start": -4,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6972,
"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": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.-200+8282G>C",
"hgvs_p": null,
"transcript": "NM_001384663.1",
"protein_id": "NP_001371592.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1295,
"cds_start": -4,
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"cds_length": 3888,
"cdna_start": null,
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"cdna_length": 7008,
"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": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.-200+8282G>C",
"hgvs_p": null,
"transcript": "NM_001384664.1",
"protein_id": "NP_001371593.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1278,
"cds_start": -4,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6957,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.-200+8282G>C",
"hgvs_p": null,
"transcript": "NM_001384666.1",
"protein_id": "NP_001371595.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 440,
"cds_start": -4,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
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"cdna_length": 1973,
"mane_select": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 1,
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"gene_symbol": "PITPNM2",
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"hgvs_c": "c.-200+8318G>C",
"hgvs_p": null,
"transcript": "NM_001384667.1",
"protein_id": "NP_001371596.1",
"transcript_support_level": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "PITPNM2",
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"hgvs_c": "c.-200+7341G>C",
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"transcript": "ENST00000542210.1",
"protein_id": "ENSP00000437869.1",
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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": "PITPNM2",
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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": "PITPNM2",
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},
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],
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"gene_symbol": "PITPNM2",
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{
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},
{
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}
],
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"allele_count_reference_population": 0,
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"computational_score_selected": -0.8700000047683716,
"computational_prediction_selected": "Benign",
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"splice_prediction_selected": null,
"splice_source_selected": null,
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"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": -2,
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"acmg_by_gene": [
{
"score": -2,
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"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000320201.10",
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"inheritance_mode": "AD",
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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
}