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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: 1-21568111-TG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=21568111&ref=TG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 21568111,
"ref": "TG",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000374840.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPL",
"gene_hgnc_id": 438,
"hgvs_c": "c.662delG",
"hgvs_p": "p.Gly221fs",
"transcript": "NM_000478.6",
"protein_id": "NP_000469.3",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 524,
"cds_start": 662,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 861,
"cdna_end": null,
"cdna_length": 2536,
"mane_select": "ENST00000374840.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPL",
"gene_hgnc_id": 438,
"hgvs_c": "c.662delG",
"hgvs_p": "p.Gly221fs",
"transcript": "ENST00000374840.8",
"protein_id": "ENSP00000363973.3",
"transcript_support_level": 1,
"aa_start": 221,
"aa_end": null,
"aa_length": 524,
"cds_start": 662,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 861,
"cdna_end": null,
"cdna_length": 2536,
"mane_select": "NM_000478.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPL",
"gene_hgnc_id": 438,
"hgvs_c": "c.662delG",
"hgvs_p": "p.Gly221fs",
"transcript": "NM_001369803.2",
"protein_id": "NP_001356732.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 524,
"cds_start": 662,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 2600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPL",
"gene_hgnc_id": 438,
"hgvs_c": "c.662delG",
"hgvs_p": "p.Gly221fs",
"transcript": "NM_001369804.2",
"protein_id": "NP_001356733.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 524,
"cds_start": 662,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 2534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPL",
"gene_hgnc_id": 438,
"hgvs_c": "c.662delG",
"hgvs_p": "p.Gly221fs",
"transcript": "NM_001369805.2",
"protein_id": "NP_001356734.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 524,
"cds_start": 662,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 2569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPL",
"gene_hgnc_id": 438,
"hgvs_c": "c.662delG",
"hgvs_p": "p.Gly221fs",
"transcript": "ENST00000374832.5",
"protein_id": "ENSP00000363965.1",
"transcript_support_level": 2,
"aa_start": 221,
"aa_end": null,
"aa_length": 524,
"cds_start": 662,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 916,
"cdna_end": null,
"cdna_length": 2193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPL",
"gene_hgnc_id": 438,
"hgvs_c": "c.497delG",
"hgvs_p": "p.Gly166fs",
"transcript": "NM_001127501.4",
"protein_id": "NP_001120973.2",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 469,
"cds_start": 497,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 2371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPL",
"gene_hgnc_id": 438,
"hgvs_c": "c.497delG",
"hgvs_p": "p.Gly166fs",
"transcript": "ENST00000540617.5",
"protein_id": "ENSP00000442672.1",
"transcript_support_level": 2,
"aa_start": 166,
"aa_end": null,
"aa_length": 469,
"cds_start": 497,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 2131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPL",
"gene_hgnc_id": 438,
"hgvs_c": "c.431delG",
"hgvs_p": "p.Gly144fs",
"transcript": "NM_001177520.3",
"protein_id": "NP_001170991.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 447,
"cds_start": 431,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 2255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPL",
"gene_hgnc_id": 438,
"hgvs_c": "c.431delG",
"hgvs_p": "p.Gly144fs",
"transcript": "ENST00000539907.5",
"protein_id": "ENSP00000437674.1",
"transcript_support_level": 2,
"aa_start": 144,
"aa_end": null,
"aa_length": 447,
"cds_start": 431,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 2241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALPL",
"gene_hgnc_id": 438,
"hgvs_c": "c.506delG",
"hgvs_p": "p.Gly169fs",
"transcript": "XM_017000903.2",
"protein_id": "XP_016856392.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 472,
"cds_start": 506,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 2181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ALPL",
"gene_hgnc_id": 438,
"dbsnp": "rs769948289",
"frequency_reference_population": 0.0000049570103,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000478853,
"gnomad_genomes_af": 0.00000657678,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.186,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000374840.8",
"gene_symbol": "ALPL",
"hgnc_id": 438,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.662delG",
"hgvs_p": "p.Gly221fs"
}
],
"clinvar_disease": "Adult hypophosphatasia,Hypophosphatasia,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3",
"phenotype_combined": "not provided|Hypophosphatasia|Adult hypophosphatasia",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}