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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: 9-77219986-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=77219986&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 77219986,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_033305.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 72,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS13A",
"gene_hgnc_id": 1908,
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Val263Met",
"transcript": "NM_033305.3",
"protein_id": "NP_150648.2",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 3174,
"cds_start": 787,
"cds_end": null,
"cds_length": 9525,
"cdna_start": 958,
"cdna_end": null,
"cdna_length": 15227,
"mane_select": "ENST00000360280.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 72,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS13A",
"gene_hgnc_id": 1908,
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Val263Met",
"transcript": "ENST00000360280.8",
"protein_id": "ENSP00000353422.3",
"transcript_support_level": 1,
"aa_start": 263,
"aa_end": null,
"aa_length": 3174,
"cds_start": 787,
"cds_end": null,
"cds_length": 9525,
"cdna_start": 958,
"cdna_end": null,
"cdna_length": 15227,
"mane_select": "NM_033305.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS13A",
"gene_hgnc_id": 1908,
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Val263Met",
"transcript": "ENST00000376636.7",
"protein_id": "ENSP00000365823.3",
"transcript_support_level": 1,
"aa_start": 263,
"aa_end": null,
"aa_length": 3135,
"cds_start": 787,
"cds_end": null,
"cds_length": 9408,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 11145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS13A",
"gene_hgnc_id": 1908,
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Val263Met",
"transcript": "NM_001018037.2",
"protein_id": "NP_001018047.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 3135,
"cds_start": 787,
"cds_end": null,
"cds_length": 9408,
"cdna_start": 958,
"cdna_end": null,
"cdna_length": 15110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS13A",
"gene_hgnc_id": 1908,
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Val263Met",
"transcript": "NM_015186.4",
"protein_id": "NP_056001.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 3095,
"cds_start": 787,
"cds_end": null,
"cds_length": 9288,
"cdna_start": 958,
"cdna_end": null,
"cdna_length": 9967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS13A",
"gene_hgnc_id": 1908,
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Val263Met",
"transcript": "ENST00000643348.1",
"protein_id": "ENSP00000493592.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 3095,
"cds_start": 787,
"cds_end": null,
"cds_length": 9288,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 9965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS13A",
"gene_hgnc_id": 1908,
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Val263Met",
"transcript": "NM_001018038.3",
"protein_id": "NP_001018048.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 3069,
"cds_start": 787,
"cds_end": null,
"cds_length": 9210,
"cdna_start": 958,
"cdna_end": null,
"cdna_length": 10088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS13A",
"gene_hgnc_id": 1908,
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Val263Met",
"transcript": "ENST00000645632.1",
"protein_id": "ENSP00000496361.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 3069,
"cds_start": 787,
"cds_end": null,
"cds_length": 9210,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 10086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "VPS13A",
"gene_hgnc_id": 1908,
"dbsnp": "rs372957084",
"frequency_reference_population": 0.00011839366,
"hom_count_reference_population": 0,
"allele_count_reference_population": 191,
"gnomad_exomes_af": 0.00011838,
"gnomad_genomes_af": 0.000118522,
"gnomad_exomes_ac": 173,
"gnomad_genomes_ac": 18,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06433513760566711,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.042,
"revel_prediction": "Benign",
"alphamissense_score": 0.0956,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.714,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_033305.3",
"gene_symbol": "VPS13A",
"hgnc_id": 1908,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Val263Met"
}
],
"clinvar_disease": "Chorea-acanthocytosis,Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not provided|Chorea-acanthocytosis|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}