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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: 22-42808795-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=42808795&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 42808795,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014570.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP3",
"gene_hgnc_id": 661,
"hgvs_c": "c.1292T>G",
"hgvs_p": "p.Met431Arg",
"transcript": "NM_014570.5",
"protein_id": "NP_055385.3",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 516,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1383,
"cdna_end": null,
"cdna_length": 2728,
"mane_select": "ENST00000263245.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014570.5"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP3",
"gene_hgnc_id": 661,
"hgvs_c": "c.1292T>G",
"hgvs_p": "p.Met431Arg",
"transcript": "ENST00000263245.10",
"protein_id": "ENSP00000263245.5",
"transcript_support_level": 1,
"aa_start": 431,
"aa_end": null,
"aa_length": 516,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1383,
"cdna_end": null,
"cdna_length": 2728,
"mane_select": "NM_014570.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263245.10"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP3",
"gene_hgnc_id": 661,
"hgvs_c": "c.1160T>G",
"hgvs_p": "p.Met387Arg",
"transcript": "ENST00000437119.6",
"protein_id": "ENSP00000388791.2",
"transcript_support_level": 1,
"aa_start": 387,
"aa_end": null,
"aa_length": 472,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 1650,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437119.6"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP3",
"gene_hgnc_id": 661,
"hgvs_c": "c.1232T>G",
"hgvs_p": "p.Met411Arg",
"transcript": "ENST00000938504.1",
"protein_id": "ENSP00000608563.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 496,
"cds_start": 1232,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 2438,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938504.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP3",
"gene_hgnc_id": 661,
"hgvs_c": "c.1208T>G",
"hgvs_p": "p.Met403Arg",
"transcript": "ENST00000960209.1",
"protein_id": "ENSP00000630268.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 488,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 2617,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960209.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP3",
"gene_hgnc_id": 661,
"hgvs_c": "c.1160T>G",
"hgvs_p": "p.Met387Arg",
"transcript": "NM_001142293.2",
"protein_id": "NP_001135765.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 472,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1251,
"cdna_end": null,
"cdna_length": 2596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142293.2"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP3",
"gene_hgnc_id": 661,
"hgvs_c": "c.1160T>G",
"hgvs_p": "p.Met387Arg",
"transcript": "ENST00000888444.1",
"protein_id": "ENSP00000558503.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 472,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 2618,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888444.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP3",
"gene_hgnc_id": 661,
"hgvs_c": "c.1028T>G",
"hgvs_p": "p.Met343Arg",
"transcript": "ENST00000888445.1",
"protein_id": "ENSP00000558504.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 428,
"cds_start": 1028,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 2363,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888445.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP3",
"gene_hgnc_id": 661,
"hgvs_c": "c.698T>G",
"hgvs_p": "p.Met233Arg",
"transcript": "ENST00000453516.5",
"protein_id": "ENSP00000403995.1",
"transcript_support_level": 3,
"aa_start": 233,
"aa_end": null,
"aa_length": 271,
"cds_start": 698,
"cds_end": null,
"cds_length": 816,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 817,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453516.5"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP3",
"gene_hgnc_id": 661,
"hgvs_c": "c.1160T>G",
"hgvs_p": "p.Met387Arg",
"transcript": "XM_005261525.5",
"protein_id": "XP_005261582.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 472,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1251,
"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": "rs73176813",
"frequency_reference_population": 0.0000037196799,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000273814,
"gnomad_genomes_af": 0.0000131409,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8235702514648438,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.8600000143051147,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": 0.624,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4089,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.165,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.86,
"spliceai_max_prediction": "Pathogenic",
"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_014570.5",
"gene_symbol": "ARFGAP3",
"hgnc_id": 661,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1292T>G",
"hgvs_p": "p.Met431Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}