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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: 11-65021778-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65021778&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 65021778,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001667.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL2",
"gene_hgnc_id": 693,
"hgvs_c": "c.478G>A",
"hgvs_p": "p.Val160Ile",
"transcript": "NM_001667.4",
"protein_id": "NP_001658.2",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 184,
"cds_start": 478,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000246747.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001667.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL2",
"gene_hgnc_id": 693,
"hgvs_c": "c.478G>A",
"hgvs_p": "p.Val160Ile",
"transcript": "ENST00000246747.9",
"protein_id": "ENSP00000246747.4",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 184,
"cds_start": 478,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001667.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000246747.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ARL2-SNX15",
"gene_hgnc_id": 49197,
"hgvs_c": "n.339+3045G>A",
"hgvs_p": null,
"transcript": "ENST00000301886.3",
"protein_id": "ENSP00000476630.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000301886.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL2",
"gene_hgnc_id": 693,
"hgvs_c": "c.478G>A",
"hgvs_p": "p.Val160Ile",
"transcript": "ENST00000529384.5",
"protein_id": "ENSP00000436021.1",
"transcript_support_level": 3,
"aa_start": 160,
"aa_end": null,
"aa_length": 184,
"cds_start": 478,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529384.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL2",
"gene_hgnc_id": 693,
"hgvs_c": "c.478G>A",
"hgvs_p": "p.Val160Ile",
"transcript": "ENST00000885663.1",
"protein_id": "ENSP00000555722.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 184,
"cds_start": 478,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885663.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL2",
"gene_hgnc_id": 693,
"hgvs_c": "c.436G>A",
"hgvs_p": "p.Val146Ile",
"transcript": "ENST00000923998.1",
"protein_id": "ENSP00000594057.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 170,
"cds_start": 436,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923998.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL2",
"gene_hgnc_id": 693,
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Val133Ile",
"transcript": "NM_001199745.2",
"protein_id": "NP_001186674.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 157,
"cds_start": 397,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199745.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL2",
"gene_hgnc_id": 693,
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Val133Ile",
"transcript": "ENST00000533729.1",
"protein_id": "ENSP00000432971.1",
"transcript_support_level": 5,
"aa_start": 133,
"aa_end": null,
"aa_length": 157,
"cds_start": 397,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533729.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL2",
"gene_hgnc_id": 693,
"hgvs_c": "n.263G>A",
"hgvs_p": null,
"transcript": "ENST00000529254.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000529254.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ARL2-SNX15",
"gene_hgnc_id": 49197,
"hgvs_c": "n.387+3045G>A",
"hgvs_p": null,
"transcript": "NR_037650.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_037650.2"
}
],
"gene_symbol": "ARL2",
"gene_hgnc_id": 693,
"dbsnp": "rs186939062",
"frequency_reference_population": 0.000019838637,
"hom_count_reference_population": 0,
"allele_count_reference_population": 32,
"gnomad_exomes_af": 0.0000177997,
"gnomad_genomes_af": 0.0000393913,
"gnomad_exomes_ac": 26,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05888757109642029,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.085,
"revel_prediction": "Benign",
"alphamissense_score": 0.0833,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.79,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BS2_Supporting",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_001667.4",
"gene_symbol": "ARL2",
"hgnc_id": 693,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.478G>A",
"hgvs_p": "p.Val160Ile"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000301886.3",
"gene_symbol": "ARL2-SNX15",
"hgnc_id": 49197,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.339+3045G>A",
"hgvs_p": null
}
],
"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
}