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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: 16-70698729-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=70698729&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 70698729,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000261776.10",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.1744G>A",
"hgvs_p": "p.Ala582Thr",
"transcript": "NM_018052.5",
"protein_id": "NP_060522.3",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 782,
"cds_start": 1744,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2002,
"cdna_end": null,
"cdna_length": 3096,
"mane_select": "ENST00000261776.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.1744G>A",
"hgvs_p": "p.Ala582Thr",
"transcript": "ENST00000261776.10",
"protein_id": "ENSP00000261776.5",
"transcript_support_level": 1,
"aa_start": 582,
"aa_end": null,
"aa_length": 782,
"cds_start": 1744,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2002,
"cdna_end": null,
"cdna_length": 3096,
"mane_select": "NM_018052.5",
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "n.432G>A",
"hgvs_p": null,
"transcript": "ENST00000564685.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "n.*1470G>A",
"hgvs_p": null,
"transcript": "ENST00000568548.5",
"protein_id": "ENSP00000454650.1",
"transcript_support_level": 1,
"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": 2945,
"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": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "n.*369G>A",
"hgvs_p": null,
"transcript": "ENST00000568886.5",
"protein_id": "ENSP00000457809.1",
"transcript_support_level": 1,
"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": 2151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "n.*1470G>A",
"hgvs_p": null,
"transcript": "ENST00000568548.5",
"protein_id": "ENSP00000454650.1",
"transcript_support_level": 1,
"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": 2945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "n.*369G>A",
"hgvs_p": null,
"transcript": "ENST00000568886.5",
"protein_id": "ENSP00000457809.1",
"transcript_support_level": 1,
"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": 2151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Ala348Thr",
"transcript": "NM_001351157.2",
"protein_id": "NP_001338086.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 548,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1851,
"cdna_end": null,
"cdna_length": 2945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Ala125Thr",
"transcript": "ENST00000566416.1",
"protein_id": "ENSP00000455731.1",
"transcript_support_level": 3,
"aa_start": 125,
"aa_end": null,
"aa_length": 258,
"cds_start": 373,
"cds_end": null,
"cds_length": 779,
"cdna_start": 374,
"cdna_end": null,
"cdna_length": 780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.40G>A",
"hgvs_p": "p.Ala14Thr",
"transcript": "ENST00000536184.6",
"protein_id": "ENSP00000439284.2",
"transcript_support_level": 2,
"aa_start": 14,
"aa_end": null,
"aa_length": 214,
"cds_start": 40,
"cds_end": null,
"cds_length": 645,
"cdna_start": 1070,
"cdna_end": null,
"cdna_length": 2161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.1744G>A",
"hgvs_p": "p.Ala582Thr",
"transcript": "XM_005256038.5",
"protein_id": "XP_005256095.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 790,
"cds_start": 1744,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2002,
"cdna_end": null,
"cdna_length": 7055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"dbsnp": "rs749094914",
"frequency_reference_population": 0.0000020521716,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205217,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7015503644943237,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.352,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5992,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.563,
"phylop100way_prediction": "Pathogenic",
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM5,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PM5",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000261776.10",
"gene_symbol": "VAC14",
"hgnc_id": 25507,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1744G>A",
"hgvs_p": "p.Ala582Thr"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}