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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: 8-33512496-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=33512496&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 33512496,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000431156.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"hgvs_c": "c.118C>T",
"hgvs_p": "p.Pro40Ser",
"transcript": "NM_001102401.4",
"protein_id": "NP_001095871.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 508,
"cds_start": 118,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 271,
"cdna_end": null,
"cdna_length": 2131,
"mane_select": "ENST00000431156.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"hgvs_c": "c.118C>T",
"hgvs_p": "p.Pro40Ser",
"transcript": "ENST00000431156.7",
"protein_id": "ENSP00000411169.3",
"transcript_support_level": 1,
"aa_start": 40,
"aa_end": null,
"aa_length": 508,
"cds_start": 118,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 271,
"cdna_end": null,
"cdna_length": 2131,
"mane_select": "NM_001102401.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"hgvs_c": "c.118C>T",
"hgvs_p": "p.Pro40Ser",
"transcript": "ENST00000613904.1",
"protein_id": "ENSP00000478396.1",
"transcript_support_level": 1,
"aa_start": 40,
"aa_end": null,
"aa_length": 508,
"cds_start": 118,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 2516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"hgvs_c": "c.118C>T",
"hgvs_p": "p.Pro40Ser",
"transcript": "NM_001265581.2",
"protein_id": "NP_001252510.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 508,
"cds_start": 118,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 2253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"hgvs_c": "c.118C>T",
"hgvs_p": "p.Pro40Ser",
"transcript": "NM_025115.5",
"protein_id": "NP_079391.2",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 508,
"cds_start": 118,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 2500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"hgvs_c": "c.118C>T",
"hgvs_p": "p.Pro40Ser",
"transcript": "ENST00000360742.9",
"protein_id": "ENSP00000353971.5",
"transcript_support_level": 2,
"aa_start": 40,
"aa_end": null,
"aa_length": 508,
"cds_start": 118,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 2242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"hgvs_c": "c.118C>T",
"hgvs_p": "p.Pro40Ser",
"transcript": "NM_001330505.3",
"protein_id": "NP_001317434.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 477,
"cds_start": 118,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 271,
"cdna_end": null,
"cdna_length": 2038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"hgvs_c": "c.118C>T",
"hgvs_p": "p.Pro40Ser",
"transcript": "NM_001440381.1",
"protein_id": "NP_001427310.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 477,
"cds_start": 118,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"hgvs_c": "c.118C>T",
"hgvs_p": "p.Pro40Ser",
"transcript": "ENST00000520636.5",
"protein_id": "ENSP00000428401.1",
"transcript_support_level": 5,
"aa_start": 40,
"aa_end": null,
"aa_length": 477,
"cds_start": 118,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 217,
"cdna_end": null,
"cdna_length": 1588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"hgvs_c": "c.118C>T",
"hgvs_p": "p.Pro40Ser",
"transcript": "ENST00000523305.1",
"protein_id": "ENSP00000428569.1",
"transcript_support_level": 3,
"aa_start": 40,
"aa_end": null,
"aa_length": 100,
"cds_start": 118,
"cds_end": null,
"cds_length": 303,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"dbsnp": "rs78781527",
"frequency_reference_population": 0.007079566,
"hom_count_reference_population": 61,
"allele_count_reference_population": 11427,
"gnomad_exomes_af": 0.00729744,
"gnomad_genomes_af": 0.00498686,
"gnomad_exomes_ac": 10668,
"gnomad_genomes_ac": 759,
"gnomad_exomes_homalt": 60,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0038638412952423096,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.063,
"revel_prediction": "Benign",
"alphamissense_score": 0.0915,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.628,
"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,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000431156.7",
"gene_symbol": "TTI2",
"hgnc_id": 26262,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.118C>T",
"hgvs_p": "p.Pro40Ser"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:1",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}