← 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: 20-23986458-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=23986458&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 23986458,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000335694.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGTLC1",
"gene_hgnc_id": 16437,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Ala52Pro",
"transcript": "NM_178311.3",
"protein_id": "NP_842563.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 225,
"cds_start": 154,
"cds_end": null,
"cds_length": 678,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 1046,
"mane_select": "ENST00000335694.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGTLC1",
"gene_hgnc_id": 16437,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Ala52Pro",
"transcript": "ENST00000335694.4",
"protein_id": "ENSP00000337587.4",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 225,
"cds_start": 154,
"cds_end": null,
"cds_length": 678,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 1046,
"mane_select": "NM_178311.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGTLC1",
"gene_hgnc_id": 16437,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Ala52Pro",
"transcript": "ENST00000278765.8",
"protein_id": "ENSP00000278765.4",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 225,
"cds_start": 154,
"cds_end": null,
"cds_length": 678,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGTLC1",
"gene_hgnc_id": 16437,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Ala52Pro",
"transcript": "ENST00000286890.8",
"protein_id": "ENSP00000286890.4",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 225,
"cds_start": 154,
"cds_end": null,
"cds_length": 678,
"cdna_start": 338,
"cdna_end": null,
"cdna_length": 1028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGTLC1",
"gene_hgnc_id": 16437,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Ala52Pro",
"transcript": "NM_178312.3",
"protein_id": "NP_842564.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 225,
"cds_start": 154,
"cds_end": null,
"cds_length": 678,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGTLC1",
"gene_hgnc_id": 16437,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Ala52Pro",
"transcript": "XM_005260863.5",
"protein_id": "XP_005260920.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 252,
"cds_start": 154,
"cds_end": null,
"cds_length": 759,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 1127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGTLC1",
"gene_hgnc_id": 16437,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Ala52Pro",
"transcript": "XM_005260864.5",
"protein_id": "XP_005260921.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 252,
"cds_start": 154,
"cds_end": null,
"cds_length": 759,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 1280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGTLC1",
"gene_hgnc_id": 16437,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Ala52Pro",
"transcript": "XM_011529391.4",
"protein_id": "XP_011527693.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 252,
"cds_start": 154,
"cds_end": null,
"cds_length": 759,
"cdna_start": 280,
"cdna_end": null,
"cdna_length": 1048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGTLC1",
"gene_hgnc_id": 16437,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Ala52Pro",
"transcript": "XM_005260865.5",
"protein_id": "XP_005260922.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 225,
"cds_start": 154,
"cds_end": null,
"cds_length": 678,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 1199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGTLC1",
"gene_hgnc_id": 16437,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Ala52Pro",
"transcript": "XM_017028126.3",
"protein_id": "XP_016883615.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 225,
"cds_start": 154,
"cds_end": null,
"cds_length": 678,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGTLC1",
"gene_hgnc_id": 16437,
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Ala22Pro",
"transcript": "XM_011529392.3",
"protein_id": "XP_011527694.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 195,
"cds_start": 64,
"cds_end": null,
"cds_length": 588,
"cdna_start": 451,
"cdna_end": null,
"cdna_length": 1138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGTLC1",
"gene_hgnc_id": 16437,
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Ala22Pro",
"transcript": "XM_011529393.3",
"protein_id": "XP_011527695.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 195,
"cds_start": 64,
"cds_end": null,
"cds_length": 588,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GGTLC1",
"gene_hgnc_id": 16437,
"dbsnp": "rs371694918",
"frequency_reference_population": 0.00018613285,
"hom_count_reference_population": 5,
"allele_count_reference_population": 300,
"gnomad_exomes_af": 0.000188426,
"gnomad_genomes_af": 0.000164154,
"gnomad_exomes_ac": 275,
"gnomad_genomes_ac": 25,
"gnomad_exomes_homalt": 5,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07654744386672974,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.259,
"revel_prediction": "Benign",
"alphamissense_score": 0.8787,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.577,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000335694.4",
"gene_symbol": "GGTLC1",
"hgnc_id": 16437,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Ala52Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}