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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: 8-144440039-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144440039&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144440039,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000409379.8",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TONSL",
"gene_hgnc_id": 7801,
"hgvs_c": "c.1462G>A",
"hgvs_p": "p.Val488Met",
"transcript": "NM_013432.5",
"protein_id": "NP_038460.4",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 1378,
"cds_start": 1462,
"cds_end": null,
"cds_length": 4137,
"cdna_start": 1488,
"cdna_end": null,
"cdna_length": 4531,
"mane_select": "ENST00000409379.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TONSL",
"gene_hgnc_id": 7801,
"hgvs_c": "c.1462G>A",
"hgvs_p": "p.Val488Met",
"transcript": "ENST00000409379.8",
"protein_id": "ENSP00000386239.3",
"transcript_support_level": 1,
"aa_start": 488,
"aa_end": null,
"aa_length": 1378,
"cds_start": 1462,
"cds_end": null,
"cds_length": 4137,
"cdna_start": 1488,
"cdna_end": null,
"cdna_length": 4531,
"mane_select": "NM_013432.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TONSL",
"gene_hgnc_id": 7801,
"hgvs_c": "c.490G>A",
"hgvs_p": "p.Val164Met",
"transcript": "XM_011517048.3",
"protein_id": "XP_011515350.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 1054,
"cds_start": 490,
"cds_end": null,
"cds_length": 3165,
"cdna_start": 602,
"cdna_end": null,
"cdna_length": 3645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TONSL",
"gene_hgnc_id": 7801,
"hgvs_c": "c.454G>A",
"hgvs_p": "p.Val152Met",
"transcript": "XM_011517049.3",
"protein_id": "XP_011515351.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 1042,
"cds_start": 454,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 566,
"cdna_end": null,
"cdna_length": 3609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TONSL",
"gene_hgnc_id": 7801,
"hgvs_c": "c.1462G>A",
"hgvs_p": "p.Val488Met",
"transcript": "XM_011517050.3",
"protein_id": "XP_011515352.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 953,
"cds_start": 1462,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 1488,
"cdna_end": null,
"cdna_length": 2971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TONSL",
"gene_hgnc_id": 7801,
"hgvs_c": "n.2437G>A",
"hgvs_p": null,
"transcript": "ENST00000497613.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 6607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TONSL-AS1",
"gene_hgnc_id": 51556,
"hgvs_c": "n.*68C>T",
"hgvs_p": null,
"transcript": "ENST00000442850.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TONSL-AS1",
"gene_hgnc_id": 51556,
"hgvs_c": "n.*146C>T",
"hgvs_p": null,
"transcript": "NR_109770.1",
"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": 1196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TONSL",
"gene_hgnc_id": 7801,
"dbsnp": "rs2229314",
"frequency_reference_population": 0.0037478602,
"hom_count_reference_population": 186,
"allele_count_reference_population": 5263,
"gnomad_exomes_af": 0.00188033,
"gnomad_genomes_af": 0.0190927,
"gnomad_exomes_ac": 2354,
"gnomad_genomes_ac": 2909,
"gnomad_exomes_homalt": 86,
"gnomad_genomes_homalt": 100,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0026845335960388184,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.065,
"revel_prediction": "Benign",
"alphamissense_score": 0.1183,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.069,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000409379.8",
"gene_symbol": "TONSL",
"hgnc_id": 7801,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1462G>A",
"hgvs_p": "p.Val488Met"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NR_109770.1",
"gene_symbol": "TONSL-AS1",
"hgnc_id": 51556,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*146C>T",
"hgvs_p": null
}
],
"clinvar_disease": "TONSL-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided|TONSL-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}