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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: 10-102685821-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=102685821&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 102685821,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004311.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"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.496G>A",
"hgvs_p": "p.Val166Ile",
"transcript": "NM_004311.4",
"protein_id": "NP_004302.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 182,
"cds_start": 496,
"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": "V",
"aa_alt": "I",
"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.496G>A",
"hgvs_p": "p.Val166Ile",
"transcript": "ENST00000260746.6",
"protein_id": "ENSP00000260746.4",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 182,
"cds_start": 496,
"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": "V",
"aa_alt": "I",
"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.496G>A",
"hgvs_p": "p.Val166Ile",
"transcript": "ENST00000920806.1",
"protein_id": "ENSP00000590865.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 210,
"cds_start": 496,
"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": "V",
"aa_alt": "I",
"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.526G>A",
"hgvs_p": "p.Val176Ile",
"transcript": "ENST00000901823.1",
"protein_id": "ENSP00000571882.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 192,
"cds_start": 526,
"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": "V",
"aa_alt": "I",
"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.445G>A",
"hgvs_p": "p.Val149Ile",
"transcript": "ENST00000901820.1",
"protein_id": "ENSP00000571879.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 165,
"cds_start": 445,
"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": "V",
"aa_alt": "I",
"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.379G>A",
"hgvs_p": "p.Val127Ile",
"transcript": "ENST00000901818.1",
"protein_id": "ENSP00000571877.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 143,
"cds_start": 379,
"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": "V",
"aa_alt": "I",
"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.352G>A",
"hgvs_p": "p.Val118Ile",
"transcript": "ENST00000901821.1",
"protein_id": "ENSP00000571880.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 134,
"cds_start": 352,
"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": "V",
"aa_alt": "I",
"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.328G>A",
"hgvs_p": "p.Val110Ile",
"transcript": "ENST00000901824.1",
"protein_id": "ENSP00000571883.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 126,
"cds_start": 328,
"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": "V",
"aa_alt": "I",
"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.301G>A",
"hgvs_p": "p.Val101Ile",
"transcript": "ENST00000901822.1",
"protein_id": "ENSP00000571881.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 117,
"cds_start": 301,
"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": "V",
"aa_alt": "I",
"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.235G>A",
"hgvs_p": "p.Val79Ile",
"transcript": "ENST00000901819.1",
"protein_id": "ENSP00000571878.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 95,
"cds_start": 235,
"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": "V",
"aa_alt": "I",
"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.496G>A",
"hgvs_p": "p.Val166Ile",
"transcript": "XM_017016260.2",
"protein_id": "XP_016871749.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 182,
"cds_start": 496,
"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": "rs374365288",
"frequency_reference_population": 0.000016187154,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000137546,
"gnomad_genomes_af": 0.0000394332,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08662682771682739,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.158,
"revel_prediction": "Benign",
"alphamissense_score": 0.0632,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.958,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM1",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004311.4",
"gene_symbol": "ARL3",
"hgnc_id": 694,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.496G>A",
"hgvs_p": "p.Val166Ile"
}
],
"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
}