← 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: 9-133539799-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=133539799&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 133539799,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000651351.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL2",
"gene_hgnc_id": 14631,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113His",
"transcript": "NM_014694.4",
"protein_id": "NP_055509.2",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 951,
"cds_start": 338,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 702,
"cdna_end": null,
"cdna_length": 3875,
"mane_select": "ENST00000651351.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL2",
"gene_hgnc_id": 14631,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113His",
"transcript": "ENST00000651351.2",
"protein_id": "ENSP00000498961.2",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 951,
"cds_start": 338,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 702,
"cdna_end": null,
"cdna_length": 3875,
"mane_select": "NM_014694.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL2",
"gene_hgnc_id": 14631,
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"transcript": "ENST00000393061.7",
"protein_id": "ENSP00000376781.3",
"transcript_support_level": 1,
"aa_start": 222,
"aa_end": null,
"aa_length": 1060,
"cds_start": 665,
"cds_end": null,
"cds_length": 3183,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 4270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL2",
"gene_hgnc_id": 14631,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113His",
"transcript": "ENST00000354484.8",
"protein_id": "ENSP00000346478.4",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 951,
"cds_start": 338,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 4068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL2",
"gene_hgnc_id": 14631,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113His",
"transcript": "ENST00000393060.1",
"protein_id": "ENSP00000376780.1",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 951,
"cds_start": 338,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 3725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL2",
"gene_hgnc_id": 14631,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113His",
"transcript": "NM_001145320.2",
"protein_id": "NP_001138792.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 951,
"cds_start": 338,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 4068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL2",
"gene_hgnc_id": 14631,
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Ala185Thr",
"transcript": "XM_011519241.3",
"protein_id": "XP_011517543.2",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 1021,
"cds_start": 553,
"cds_end": null,
"cds_length": 3066,
"cdna_start": 590,
"cdna_end": null,
"cdna_length": 3758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL2",
"gene_hgnc_id": 14631,
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Arg135His",
"transcript": "XM_011519242.4",
"protein_id": "XP_011517544.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 973,
"cds_start": 404,
"cds_end": null,
"cds_length": 2922,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 3614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL2",
"gene_hgnc_id": 14631,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Ala125Thr",
"transcript": "XM_005272238.4",
"protein_id": "XP_005272295.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 961,
"cds_start": 373,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 3578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL2",
"gene_hgnc_id": 14631,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113His",
"transcript": "XM_005272239.3",
"protein_id": "XP_005272296.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 951,
"cds_start": 338,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 3726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADAMTSL2",
"gene_hgnc_id": 14631,
"dbsnp": "rs113994122",
"frequency_reference_population": 0.0000028607064,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000286071,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9542108178138733,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.64,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5976,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.23,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.42,
"phylop100way_prediction": "Uncertain_significance",
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000651351.2",
"gene_symbol": "ADAMTSL2",
"hgnc_id": 14631,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113His"
}
],
"clinvar_disease": " Al Gazali type,Geleophysic dysplasia 1,Lethal short-limb skeletal dysplasia",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:2 O:1",
"phenotype_combined": "Geleophysic dysplasia 1|Lethal short-limb skeletal dysplasia, Al Gazali type",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}