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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: 22-42797592-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=42797592&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 42797592,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014570.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP3",
"gene_hgnc_id": 661,
"hgvs_c": "c.1547C>G",
"hgvs_p": "p.Ser516Cys",
"transcript": "NM_014570.5",
"protein_id": "NP_055385.3",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 516,
"cds_start": 1547,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1638,
"cdna_end": null,
"cdna_length": 2728,
"mane_select": "ENST00000263245.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014570.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP3",
"gene_hgnc_id": 661,
"hgvs_c": "c.1547C>G",
"hgvs_p": "p.Ser516Cys",
"transcript": "ENST00000263245.10",
"protein_id": "ENSP00000263245.5",
"transcript_support_level": 1,
"aa_start": 516,
"aa_end": null,
"aa_length": 516,
"cds_start": 1547,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1638,
"cdna_end": null,
"cdna_length": 2728,
"mane_select": "NM_014570.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263245.10"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP3",
"gene_hgnc_id": 661,
"hgvs_c": "c.1415C>G",
"hgvs_p": "p.Ser472Cys",
"transcript": "ENST00000437119.6",
"protein_id": "ENSP00000388791.2",
"transcript_support_level": 1,
"aa_start": 472,
"aa_end": null,
"aa_length": 472,
"cds_start": 1415,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 1650,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437119.6"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP3",
"gene_hgnc_id": 661,
"hgvs_c": "c.1487C>G",
"hgvs_p": "p.Ser496Cys",
"transcript": "ENST00000938504.1",
"protein_id": "ENSP00000608563.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 496,
"cds_start": 1487,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1532,
"cdna_end": null,
"cdna_length": 2438,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938504.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP3",
"gene_hgnc_id": 661,
"hgvs_c": "c.1463C>G",
"hgvs_p": "p.Ser488Cys",
"transcript": "ENST00000960209.1",
"protein_id": "ENSP00000630268.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 488,
"cds_start": 1463,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1550,
"cdna_end": null,
"cdna_length": 2617,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960209.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP3",
"gene_hgnc_id": 661,
"hgvs_c": "c.1415C>G",
"hgvs_p": "p.Ser472Cys",
"transcript": "NM_001142293.2",
"protein_id": "NP_001135765.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 472,
"cds_start": 1415,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 2596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142293.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP3",
"gene_hgnc_id": 661,
"hgvs_c": "c.1415C>G",
"hgvs_p": "p.Ser472Cys",
"transcript": "ENST00000888444.1",
"protein_id": "ENSP00000558503.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 472,
"cds_start": 1415,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1545,
"cdna_end": null,
"cdna_length": 2618,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888444.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP3",
"gene_hgnc_id": 661,
"hgvs_c": "c.1283C>G",
"hgvs_p": "p.Ser428Cys",
"transcript": "ENST00000888445.1",
"protein_id": "ENSP00000558504.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 428,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 1300,
"cdna_end": null,
"cdna_length": 2363,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888445.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP3",
"gene_hgnc_id": 661,
"hgvs_c": "c.1415C>G",
"hgvs_p": "p.Ser472Cys",
"transcript": "XM_005261525.5",
"protein_id": "XP_005261582.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 472,
"cds_start": 1415,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 2596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005261525.5"
}
],
"gene_symbol": "ARFGAP3",
"gene_hgnc_id": 661,
"dbsnp": "rs377540024",
"frequency_reference_population": 0.00003221853,
"hom_count_reference_population": 0,
"allele_count_reference_population": 52,
"gnomad_exomes_af": 0.0000307838,
"gnomad_genomes_af": 0.0000460018,
"gnomad_exomes_ac": 45,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.35001659393310547,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.123,
"revel_prediction": "Benign",
"alphamissense_score": 0.2237,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.743,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014570.5",
"gene_symbol": "ARFGAP3",
"hgnc_id": 661,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1547C>G",
"hgvs_p": "p.Ser516Cys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}