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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: 9-77177721-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=77177721&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 77177721,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_033305.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 72,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS13A",
"gene_hgnc_id": 1908,
"hgvs_c": "c.17T>G",
"hgvs_p": "p.Val6Gly",
"transcript": "NM_033305.3",
"protein_id": "NP_150648.2",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 3174,
"cds_start": 17,
"cds_end": null,
"cds_length": 9525,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 15227,
"mane_select": "ENST00000360280.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 72,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS13A",
"gene_hgnc_id": 1908,
"hgvs_c": "c.17T>G",
"hgvs_p": "p.Val6Gly",
"transcript": "ENST00000360280.8",
"protein_id": "ENSP00000353422.3",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 3174,
"cds_start": 17,
"cds_end": null,
"cds_length": 9525,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 15227,
"mane_select": "NM_033305.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS13A",
"gene_hgnc_id": 1908,
"hgvs_c": "c.17T>G",
"hgvs_p": "p.Val6Gly",
"transcript": "ENST00000376636.7",
"protein_id": "ENSP00000365823.3",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 3135,
"cds_start": 17,
"cds_end": null,
"cds_length": 9408,
"cdna_start": 277,
"cdna_end": null,
"cdna_length": 11145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS13A",
"gene_hgnc_id": 1908,
"hgvs_c": "c.17T>G",
"hgvs_p": "p.Val6Gly",
"transcript": "NM_001018037.2",
"protein_id": "NP_001018047.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 3135,
"cds_start": 17,
"cds_end": null,
"cds_length": 9408,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 15110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS13A",
"gene_hgnc_id": 1908,
"hgvs_c": "c.17T>G",
"hgvs_p": "p.Val6Gly",
"transcript": "NM_015186.4",
"protein_id": "NP_056001.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 3095,
"cds_start": 17,
"cds_end": null,
"cds_length": 9288,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 9967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS13A",
"gene_hgnc_id": 1908,
"hgvs_c": "c.17T>G",
"hgvs_p": "p.Val6Gly",
"transcript": "ENST00000643348.1",
"protein_id": "ENSP00000493592.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 3095,
"cds_start": 17,
"cds_end": null,
"cds_length": 9288,
"cdna_start": 186,
"cdna_end": null,
"cdna_length": 9965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS13A",
"gene_hgnc_id": 1908,
"hgvs_c": "c.17T>G",
"hgvs_p": "p.Val6Gly",
"transcript": "NM_001018038.3",
"protein_id": "NP_001018048.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 3069,
"cds_start": 17,
"cds_end": null,
"cds_length": 9210,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 10088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS13A",
"gene_hgnc_id": 1908,
"hgvs_c": "c.17T>G",
"hgvs_p": "p.Val6Gly",
"transcript": "ENST00000645632.1",
"protein_id": "ENSP00000496361.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 3069,
"cds_start": 17,
"cds_end": null,
"cds_length": 9210,
"cdna_start": 186,
"cdna_end": null,
"cdna_length": 10086,
"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": "VPS13A-AS1",
"gene_hgnc_id": 44167,
"hgvs_c": "n.481A>C",
"hgvs_p": null,
"transcript": "ENST00000644612.2",
"protein_id": null,
"transcript_support_level": null,
"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": 727,
"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": "VPS13A-AS1",
"gene_hgnc_id": 44167,
"hgvs_c": "n.172A>C",
"hgvs_p": null,
"transcript": "ENST00000721227.1",
"protein_id": null,
"transcript_support_level": null,
"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": 395,
"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": "VPS13A-AS1",
"gene_hgnc_id": 44167,
"hgvs_c": "n.197A>C",
"hgvs_p": null,
"transcript": "NR_026668.2",
"protein_id": null,
"transcript_support_level": null,
"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": 442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS13A-AS1",
"gene_hgnc_id": 44167,
"hgvs_c": "n.-207A>C",
"hgvs_p": null,
"transcript": "ENST00000721228.1",
"protein_id": null,
"transcript_support_level": null,
"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": 603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS13A-AS1",
"gene_hgnc_id": 44167,
"hgvs_c": "n.-240A>C",
"hgvs_p": null,
"transcript": "ENST00000721229.1",
"protein_id": null,
"transcript_support_level": null,
"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": 389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "VPS13A",
"gene_hgnc_id": 1908,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9354549646377563,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.844,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5089,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.001,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_033305.3",
"gene_symbol": "VPS13A",
"hgnc_id": 1908,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.17T>G",
"hgvs_p": "p.Val6Gly"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_026668.2",
"gene_symbol": "VPS13A-AS1",
"hgnc_id": 44167,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.197A>C",
"hgvs_p": null
}
],
"clinvar_disease": "Chorea-acanthocytosis",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Chorea-acanthocytosis",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}