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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: 1-155235727-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155235727&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 155235727,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000368373.8",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.1342G>C",
"hgvs_p": "p.Asp448His",
"transcript": "NM_000157.4",
"protein_id": "NP_000148.2",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 536,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 2291,
"mane_select": "ENST00000368373.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.1342G>C",
"hgvs_p": "p.Asp448His",
"transcript": "ENST00000368373.8",
"protein_id": "ENSP00000357357.3",
"transcript_support_level": 1,
"aa_start": 448,
"aa_end": null,
"aa_length": 536,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 2291,
"mane_select": "NM_000157.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.1342G>C",
"hgvs_p": "p.Asp448His",
"transcript": "ENST00000327247.9",
"protein_id": "ENSP00000314508.5",
"transcript_support_level": 1,
"aa_start": 448,
"aa_end": null,
"aa_length": 536,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1575,
"cdna_end": null,
"cdna_length": 2387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.1342G>C",
"hgvs_p": "p.Asp448His",
"transcript": "NM_001005741.3",
"protein_id": "NP_001005741.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 536,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1532,
"cdna_end": null,
"cdna_length": 2344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.1342G>C",
"hgvs_p": "p.Asp448His",
"transcript": "NM_001005742.3",
"protein_id": "NP_001005742.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 536,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1513,
"cdna_end": null,
"cdna_length": 2325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.1195G>C",
"hgvs_p": "p.Asp399His",
"transcript": "NM_001171812.2",
"protein_id": "NP_001165283.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 487,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1332,
"cdna_end": null,
"cdna_length": 2144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.1195G>C",
"hgvs_p": "p.Asp399His",
"transcript": "ENST00000427500.7",
"protein_id": "ENSP00000402577.2",
"transcript_support_level": 2,
"aa_start": 399,
"aa_end": null,
"aa_length": 487,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1358,
"cdna_end": null,
"cdna_length": 2063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.1081G>C",
"hgvs_p": "p.Asp361His",
"transcript": "NM_001171811.2",
"protein_id": "NP_001165282.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 449,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1349,
"cdna_end": null,
"cdna_length": 2161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.1081G>C",
"hgvs_p": "p.Asp361His",
"transcript": "ENST00000428024.3",
"protein_id": "ENSP00000397986.2",
"transcript_support_level": 2,
"aa_start": 361,
"aa_end": null,
"aa_length": 449,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1421,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "n.109G>C",
"hgvs_p": null,
"transcript": "ENST00000464536.1",
"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": 559,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "n.333G>C",
"hgvs_p": null,
"transcript": "ENST00000478472.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 1005,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "n.501G>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
}
],
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"dbsnp": "rs1064651",
"frequency_reference_population": 0.00011218378,
"hom_count_reference_population": 0,
"allele_count_reference_population": 181,
"gnomad_exomes_af": 0.000103333,
"gnomad_genomes_af": 0.0001972,
"gnomad_exomes_ac": 151,
"gnomad_genomes_ac": 30,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7263401746749878,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.20999999344348907,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.738,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5446,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.4,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.374,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.21,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 13,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM5,PP2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 13,
"benign_score": 0,
"pathogenic_score": 13,
"criteria": [
"PM1",
"PM5",
"PP2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000368373.8",
"gene_symbol": "GBA1",
"hgnc_id": 4177,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1342G>C",
"hgvs_p": "p.Asp448His"
}
],
"clinvar_disease": " late-onset,7 conditions,Gaucher disease,Gaucher disease perinatal lethal,Gaucher disease type I,Gaucher disease type II,Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Parkinson disease,not provided,not specified",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:22 LP:1 O:1",
"phenotype_combined": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome|Gaucher disease type I|Gaucher disease type II|Gaucher disease type III|Gaucher disease perinatal lethal|not provided|Gaucher disease|Parkinson disease, late-onset|7 conditions|Gaucher disease type I;Gaucher disease type II;Gaucher disease type III;Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome|not specified",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}