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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: 1-155238144-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155238144&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 155238144,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000368373.8",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.751T>C",
"hgvs_p": "p.Tyr251His",
"transcript": "NM_000157.4",
"protein_id": "NP_000148.2",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 536,
"cds_start": 751,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 2291,
"mane_select": "ENST00000368373.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.751T>C",
"hgvs_p": "p.Tyr251His",
"transcript": "ENST00000368373.8",
"protein_id": "ENSP00000357357.3",
"transcript_support_level": 1,
"aa_start": 251,
"aa_end": null,
"aa_length": 536,
"cds_start": 751,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 2291,
"mane_select": "NM_000157.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.751T>C",
"hgvs_p": "p.Tyr251His",
"transcript": "ENST00000327247.9",
"protein_id": "ENSP00000314508.5",
"transcript_support_level": 1,
"aa_start": 251,
"aa_end": null,
"aa_length": 536,
"cds_start": 751,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 2387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.751T>C",
"hgvs_p": "p.Tyr251His",
"transcript": "NM_001005741.3",
"protein_id": "NP_001005741.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 536,
"cds_start": 751,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 2344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.751T>C",
"hgvs_p": "p.Tyr251His",
"transcript": "NM_001005742.3",
"protein_id": "NP_001005742.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 536,
"cds_start": 751,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 922,
"cdna_end": null,
"cdna_length": 2325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.604T>C",
"hgvs_p": "p.Tyr202His",
"transcript": "NM_001171812.2",
"protein_id": "NP_001165283.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 487,
"cds_start": 604,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 2144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.604T>C",
"hgvs_p": "p.Tyr202His",
"transcript": "ENST00000427500.7",
"protein_id": "ENSP00000402577.2",
"transcript_support_level": 2,
"aa_start": 202,
"aa_end": null,
"aa_length": 487,
"cds_start": 604,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 2063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.490T>C",
"hgvs_p": "p.Tyr164His",
"transcript": "NM_001171811.2",
"protein_id": "NP_001165282.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 449,
"cds_start": 490,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 2161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.490T>C",
"hgvs_p": "p.Tyr164His",
"transcript": "ENST00000428024.3",
"protein_id": "ENSP00000397986.2",
"transcript_support_level": 2,
"aa_start": 164,
"aa_end": null,
"aa_length": 449,
"cds_start": 490,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 1817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "n.538T>C",
"hgvs_p": null,
"transcript": "ENST00000460156.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "n.356T>C",
"hgvs_p": null,
"transcript": "ENST00000491081.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "n.374T>C",
"hgvs_p": null,
"transcript": "ENST00000497670.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "n.339+1829T>C",
"hgvs_p": null,
"transcript": "ENST00000484489.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "n.*69T>C",
"hgvs_p": null,
"transcript": "ENST00000493842.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"dbsnp": "rs121908300",
"frequency_reference_population": 0.0000013681014,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000013681,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9861769080162048,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.928,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9243,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.54,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.099,
"phylop100way_prediction": "Pathogenic",
"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": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP3_Strong",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000368373.8",
"gene_symbol": "GBA1",
"hgnc_id": 4177,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.751T>C",
"hgvs_p": "p.Tyr251His"
}
],
"clinvar_disease": "Gaucher disease,Gaucher disease type I,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Gaucher disease type I|Gaucher disease|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}