← 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: 16-53470809-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=53470809&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 53470809,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000262133.11",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL2",
"gene_hgnc_id": 9894,
"hgvs_c": "c.2590T>G",
"hgvs_p": "p.Leu864Val",
"transcript": "NM_005611.4",
"protein_id": "NP_005602.3",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 1139,
"cds_start": 2590,
"cds_end": null,
"cds_length": 3420,
"cdna_start": 2676,
"cdna_end": null,
"cdna_length": 4854,
"mane_select": "ENST00000262133.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL2",
"gene_hgnc_id": 9894,
"hgvs_c": "c.2590T>G",
"hgvs_p": "p.Leu864Val",
"transcript": "ENST00000262133.11",
"protein_id": "ENSP00000262133.6",
"transcript_support_level": 1,
"aa_start": 864,
"aa_end": null,
"aa_length": 1139,
"cds_start": 2590,
"cds_end": null,
"cds_length": 3420,
"cdna_start": 2676,
"cdna_end": null,
"cdna_length": 4854,
"mane_select": "NM_005611.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL2",
"gene_hgnc_id": 9894,
"hgvs_c": "n.2289T>G",
"hgvs_p": null,
"transcript": "ENST00000379935.8",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL2",
"gene_hgnc_id": 9894,
"hgvs_c": "c.2590T>G",
"hgvs_p": "p.Leu864Val",
"transcript": "NM_001323608.2",
"protein_id": "NP_001310537.1",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 1139,
"cds_start": 2590,
"cds_end": null,
"cds_length": 3420,
"cdna_start": 2676,
"cdna_end": null,
"cdna_length": 4641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL2",
"gene_hgnc_id": 9894,
"hgvs_c": "c.2590T>G",
"hgvs_p": "p.Leu864Val",
"transcript": "NM_001323609.2",
"protein_id": "NP_001310538.1",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 1115,
"cds_start": 2590,
"cds_end": null,
"cds_length": 3348,
"cdna_start": 2676,
"cdna_end": null,
"cdna_length": 4782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL2",
"gene_hgnc_id": 9894,
"hgvs_c": "c.2443T>G",
"hgvs_p": "p.Leu815Val",
"transcript": "NM_001323610.2",
"protein_id": "NP_001310539.1",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 1090,
"cds_start": 2443,
"cds_end": null,
"cds_length": 3273,
"cdna_start": 2529,
"cdna_end": null,
"cdna_length": 4707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL2",
"gene_hgnc_id": 9894,
"hgvs_c": "c.2368T>G",
"hgvs_p": "p.Leu790Val",
"transcript": "NM_001323611.1",
"protein_id": "NP_001310540.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 1065,
"cds_start": 2368,
"cds_end": null,
"cds_length": 3198,
"cdna_start": 2476,
"cdna_end": null,
"cdna_length": 4654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL2",
"gene_hgnc_id": 9894,
"hgvs_c": "c.2029T>G",
"hgvs_p": "p.Leu677Val",
"transcript": "XM_047434414.1",
"protein_id": "XP_047290370.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 952,
"cds_start": 2029,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 2135,
"cdna_end": null,
"cdna_length": 4313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL2",
"gene_hgnc_id": 9894,
"hgvs_c": "c.1942T>G",
"hgvs_p": "p.Leu648Val",
"transcript": "XM_011523253.3",
"protein_id": "XP_011521555.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 923,
"cds_start": 1942,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 2172,
"cdna_end": null,
"cdna_length": 4350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL2",
"gene_hgnc_id": 9894,
"hgvs_c": "n.4381T>G",
"hgvs_p": null,
"transcript": "ENST00000680543.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RBL2",
"gene_hgnc_id": 9894,
"dbsnp": "rs10748",
"frequency_reference_population": 6.8405535e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84055e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9454283118247986,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.697,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2397,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.643,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000262133.11",
"gene_symbol": "RBL2",
"hgnc_id": 9894,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2590T>G",
"hgvs_p": "p.Leu864Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}