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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: 2-24190429-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=24190429&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 24190429,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000295150.8",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM228A",
"gene_hgnc_id": 34418,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Tyr140Cys",
"transcript": "NM_001040710.3",
"protein_id": "NP_001035800.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 206,
"cds_start": 419,
"cds_end": null,
"cds_length": 621,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 1824,
"mane_select": "ENST00000295150.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM228A",
"gene_hgnc_id": 34418,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Tyr140Cys",
"transcript": "ENST00000295150.8",
"protein_id": "ENSP00000295150.3",
"transcript_support_level": 1,
"aa_start": 140,
"aa_end": null,
"aa_length": 206,
"cds_start": 419,
"cds_end": null,
"cds_length": 621,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 1824,
"mane_select": "NM_001040710.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000276087",
"gene_hgnc_id": null,
"hgvs_c": "n.*1546A>G",
"hgvs_p": null,
"transcript": "ENST00000610442.1",
"protein_id": "ENSP00000483650.1",
"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": 2281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000276087",
"gene_hgnc_id": null,
"hgvs_c": "n.*1546A>G",
"hgvs_p": null,
"transcript": "ENST00000610442.1",
"protein_id": "ENSP00000483650.1",
"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": 2281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM228A",
"gene_hgnc_id": 34418,
"hgvs_c": "c.536A>G",
"hgvs_p": "p.Tyr179Cys",
"transcript": "ENST00000432434.2",
"protein_id": "ENSP00000412833.2",
"transcript_support_level": 5,
"aa_start": 179,
"aa_end": null,
"aa_length": 274,
"cds_start": 536,
"cds_end": null,
"cds_length": 825,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 1120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM228A",
"gene_hgnc_id": 34418,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Tyr41Cys",
"transcript": "ENST00000415196.1",
"protein_id": "ENSP00000416595.1",
"transcript_support_level": 2,
"aa_start": 41,
"aa_end": null,
"aa_length": 136,
"cds_start": 122,
"cds_end": null,
"cds_length": 411,
"cdna_start": 122,
"cdna_end": null,
"cdna_length": 516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM228A",
"gene_hgnc_id": 34418,
"hgvs_c": "n.*285A>G",
"hgvs_p": null,
"transcript": "ENST00000456591.6",
"protein_id": "ENSP00000401257.1",
"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": 1117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM228A",
"gene_hgnc_id": 34418,
"hgvs_c": "n.*285A>G",
"hgvs_p": null,
"transcript": "ENST00000456591.6",
"protein_id": "ENSP00000401257.1",
"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": 1117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FAM228A",
"gene_hgnc_id": 34418,
"dbsnp": "rs2288073",
"frequency_reference_population": 0.2901629,
"hom_count_reference_population": 70807,
"allele_count_reference_population": 467890,
"gnomad_exomes_af": 0.294882,
"gnomad_genomes_af": 0.244871,
"gnomad_exomes_ac": 430630,
"gnomad_genomes_ac": 37260,
"gnomad_exomes_homalt": 65738,
"gnomad_genomes_homalt": 5069,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00476798415184021,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.062,
"revel_prediction": "Benign",
"alphamissense_score": 0.0429,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.655,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000295150.8",
"gene_symbol": "FAM228A",
"hgnc_id": 34418,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Tyr140Cys"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000610442.1",
"gene_symbol": "ENSG00000276087",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*1546A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}