← Back to variant description
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: 6-106619221-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=106619221&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 106619221,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000369063.8",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4IP1",
"gene_hgnc_id": 18647,
"hgvs_c": "c.601A>G",
"hgvs_p": "p.Lys201Glu",
"transcript": "NM_032730.5",
"protein_id": "NP_116119.2",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 396,
"cds_start": 601,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 2893,
"mane_select": "ENST00000369063.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4IP1",
"gene_hgnc_id": 18647,
"hgvs_c": "c.601A>G",
"hgvs_p": "p.Lys201Glu",
"transcript": "ENST00000369063.8",
"protein_id": "ENSP00000358059.3",
"transcript_support_level": 1,
"aa_start": 201,
"aa_end": null,
"aa_length": 396,
"cds_start": 601,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 2893,
"mane_select": "NM_032730.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4IP1",
"gene_hgnc_id": 18647,
"hgvs_c": "c.301A>G",
"hgvs_p": "p.Lys101Glu",
"transcript": "NM_001318746.1",
"protein_id": "NP_001305675.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 296,
"cds_start": 301,
"cds_end": null,
"cds_length": 891,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 2307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4IP1",
"gene_hgnc_id": 18647,
"hgvs_c": "c.601A>G",
"hgvs_p": "p.Lys201Glu",
"transcript": "ENST00000539449.2",
"protein_id": "ENSP00000444261.1",
"transcript_support_level": 2,
"aa_start": 201,
"aa_end": null,
"aa_length": 226,
"cds_start": 601,
"cds_end": null,
"cds_length": 681,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4IP1",
"gene_hgnc_id": 18647,
"hgvs_c": "c.361A>G",
"hgvs_p": "p.Lys121Glu",
"transcript": "XM_011536192.3",
"protein_id": "XP_011534494.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 316,
"cds_start": 361,
"cds_end": null,
"cds_length": 951,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 1748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4IP1",
"gene_hgnc_id": 18647,
"hgvs_c": "c.601A>G",
"hgvs_p": "p.Lys201Glu",
"transcript": "XM_017011376.3",
"protein_id": "XP_016866865.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 288,
"cds_start": 601,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 1906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RTN4IP1",
"gene_hgnc_id": 18647,
"dbsnp": "rs200457692",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09620064496994019,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.084,
"revel_prediction": "Benign",
"alphamissense_score": 0.1173,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.386,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000369063.8",
"gene_symbol": "RTN4IP1",
"hgnc_id": 18647,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.601A>G",
"hgvs_p": "p.Lys201Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}