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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: 10-102685865-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=102685865&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 102685865,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004311.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL3",
"gene_hgnc_id": 694,
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Arg151Gln",
"transcript": "NM_004311.4",
"protein_id": "NP_004302.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 182,
"cds_start": 452,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000260746.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004311.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL3",
"gene_hgnc_id": 694,
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Arg151Gln",
"transcript": "ENST00000260746.6",
"protein_id": "ENSP00000260746.4",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 182,
"cds_start": 452,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004311.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260746.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL3",
"gene_hgnc_id": 694,
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Arg151Gln",
"transcript": "ENST00000920806.1",
"protein_id": "ENSP00000590865.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 210,
"cds_start": 452,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920806.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL3",
"gene_hgnc_id": 694,
"hgvs_c": "c.482G>A",
"hgvs_p": "p.Arg161Gln",
"transcript": "ENST00000901823.1",
"protein_id": "ENSP00000571882.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 192,
"cds_start": 482,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901823.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL3",
"gene_hgnc_id": 694,
"hgvs_c": "c.401G>A",
"hgvs_p": "p.Arg134Gln",
"transcript": "ENST00000901820.1",
"protein_id": "ENSP00000571879.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 165,
"cds_start": 401,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901820.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL3",
"gene_hgnc_id": 694,
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Arg112Gln",
"transcript": "ENST00000901818.1",
"protein_id": "ENSP00000571877.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 143,
"cds_start": 335,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901818.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL3",
"gene_hgnc_id": 694,
"hgvs_c": "c.308G>A",
"hgvs_p": "p.Arg103Gln",
"transcript": "ENST00000901821.1",
"protein_id": "ENSP00000571880.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 134,
"cds_start": 308,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901821.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL3",
"gene_hgnc_id": 694,
"hgvs_c": "c.284G>A",
"hgvs_p": "p.Arg95Gln",
"transcript": "ENST00000901824.1",
"protein_id": "ENSP00000571883.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 126,
"cds_start": 284,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901824.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL3",
"gene_hgnc_id": 694,
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86Gln",
"transcript": "ENST00000901822.1",
"protein_id": "ENSP00000571881.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 117,
"cds_start": 257,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901822.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL3",
"gene_hgnc_id": 694,
"hgvs_c": "c.191G>A",
"hgvs_p": "p.Arg64Gln",
"transcript": "ENST00000901819.1",
"protein_id": "ENSP00000571878.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 95,
"cds_start": 191,
"cds_end": null,
"cds_length": 288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901819.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL3",
"gene_hgnc_id": 694,
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Arg151Gln",
"transcript": "XM_017016260.2",
"protein_id": "XP_016871749.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 182,
"cds_start": 452,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016260.2"
}
],
"gene_symbol": "ARL3",
"gene_hgnc_id": 694,
"dbsnp": "rs376018992",
"frequency_reference_population": 0.0000080549025,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000752519,
"gnomad_genomes_af": 0.0000131435,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8785281777381897,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.653,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6123,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.175,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": "Uncertain_significance",
"acmg_criteria": "PM1,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004311.4",
"gene_symbol": "ARL3",
"hgnc_id": 694,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Arg151Gln"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}