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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: 8-144440024-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144440024&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144440024,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_013432.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"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.1477G>C",
"hgvs_p": "p.Gly493Arg",
"transcript": "NM_013432.5",
"protein_id": "NP_038460.4",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 1378,
"cds_start": 1477,
"cds_end": null,
"cds_length": 4137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000409379.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013432.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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.1477G>C",
"hgvs_p": "p.Gly493Arg",
"transcript": "ENST00000409379.8",
"protein_id": "ENSP00000386239.3",
"transcript_support_level": 1,
"aa_start": 493,
"aa_end": null,
"aa_length": 1378,
"cds_start": 1477,
"cds_end": null,
"cds_length": 4137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013432.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409379.8"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TONSL",
"gene_hgnc_id": 7801,
"hgvs_c": "c.1477G>C",
"hgvs_p": "p.Gly493Arg",
"transcript": "ENST00000932056.1",
"protein_id": "ENSP00000602115.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 1434,
"cds_start": 1477,
"cds_end": null,
"cds_length": 4305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932056.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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.1477G>C",
"hgvs_p": "p.Gly493Arg",
"transcript": "ENST00000971177.1",
"protein_id": "ENSP00000641236.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 1388,
"cds_start": 1477,
"cds_end": null,
"cds_length": 4167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971177.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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.1477G>C",
"hgvs_p": "p.Gly493Arg",
"transcript": "ENST00000932054.1",
"protein_id": "ENSP00000602113.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 1377,
"cds_start": 1477,
"cds_end": null,
"cds_length": 4134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932054.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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.1477G>C",
"hgvs_p": "p.Gly493Arg",
"transcript": "ENST00000932055.1",
"protein_id": "ENSP00000602114.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 1367,
"cds_start": 1477,
"cds_end": null,
"cds_length": 4104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932055.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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.1444G>C",
"hgvs_p": "p.Gly482Arg",
"transcript": "ENST00000971178.1",
"protein_id": "ENSP00000641237.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 1367,
"cds_start": 1444,
"cds_end": null,
"cds_length": 4104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971178.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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.505G>C",
"hgvs_p": "p.Gly169Arg",
"transcript": "XM_011517048.3",
"protein_id": "XP_011515350.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1054,
"cds_start": 505,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517048.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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.469G>C",
"hgvs_p": "p.Gly157Arg",
"transcript": "XM_011517049.3",
"protein_id": "XP_011515351.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 1042,
"cds_start": 469,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517049.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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.1477G>C",
"hgvs_p": "p.Gly493Arg",
"transcript": "XM_011517050.3",
"protein_id": "XP_011515352.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 953,
"cds_start": 1477,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517050.3"
},
{
"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.2452G>C",
"hgvs_p": null,
"transcript": "ENST00000497613.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000497613.2"
},
{
"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.*53C>G",
"hgvs_p": null,
"transcript": "ENST00000442850.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000442850.1"
},
{
"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.*131C>G",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_109770.1"
}
],
"gene_symbol": "TONSL",
"gene_hgnc_id": 7801,
"dbsnp": "rs2229315",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08080968260765076,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.087,
"revel_prediction": "Benign",
"alphamissense_score": 0.218,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.812,
"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": 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": "NM_013432.5",
"gene_symbol": "TONSL",
"hgnc_id": 7801,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1477G>C",
"hgvs_p": "p.Gly493Arg"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_109770.1",
"gene_symbol": "TONSL-AS1",
"hgnc_id": 51556,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*131C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}