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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: 8-33503800-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=33503800&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 33503800,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000431156.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"hgvs_c": "c.1063C>T",
"hgvs_p": "p.Arg355Cys",
"transcript": "NM_001102401.4",
"protein_id": "NP_001095871.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 508,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1216,
"cdna_end": null,
"cdna_length": 2131,
"mane_select": "ENST00000431156.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"hgvs_c": "c.1063C>T",
"hgvs_p": "p.Arg355Cys",
"transcript": "ENST00000431156.7",
"protein_id": "ENSP00000411169.3",
"transcript_support_level": 1,
"aa_start": 355,
"aa_end": null,
"aa_length": 508,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1216,
"cdna_end": null,
"cdna_length": 2131,
"mane_select": "NM_001102401.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"hgvs_c": "c.1063C>T",
"hgvs_p": "p.Arg355Cys",
"transcript": "ENST00000613904.1",
"protein_id": "ENSP00000478396.1",
"transcript_support_level": 1,
"aa_start": 355,
"aa_end": null,
"aa_length": 508,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1388,
"cdna_end": null,
"cdna_length": 2516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"hgvs_c": "c.1063C>T",
"hgvs_p": "p.Arg355Cys",
"transcript": "NM_001265581.2",
"protein_id": "NP_001252510.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 508,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1338,
"cdna_end": null,
"cdna_length": 2253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"hgvs_c": "c.1063C>T",
"hgvs_p": "p.Arg355Cys",
"transcript": "NM_025115.5",
"protein_id": "NP_079391.2",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 508,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1585,
"cdna_end": null,
"cdna_length": 2500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"hgvs_c": "c.1063C>T",
"hgvs_p": "p.Arg355Cys",
"transcript": "ENST00000360742.9",
"protein_id": "ENSP00000353971.5",
"transcript_support_level": 2,
"aa_start": 355,
"aa_end": null,
"aa_length": 508,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1559,
"cdna_end": null,
"cdna_length": 2242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"hgvs_c": "c.970C>T",
"hgvs_p": "p.Arg324Cys",
"transcript": "NM_001330505.3",
"protein_id": "NP_001317434.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 477,
"cds_start": 970,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 1123,
"cdna_end": null,
"cdna_length": 2038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"hgvs_c": "c.970C>T",
"hgvs_p": "p.Arg324Cys",
"transcript": "NM_001440381.1",
"protein_id": "NP_001427310.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 477,
"cds_start": 970,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "TTI2",
"gene_hgnc_id": 26262,
"hgvs_c": "c.970C>T",
"hgvs_p": "p.Arg324Cys",
"transcript": "ENST00000520636.5",
"protein_id": "ENSP00000428401.1",
"transcript_support_level": 5,
"aa_start": 324,
"aa_end": null,
"aa_length": 477,
"cds_start": 970,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 1588,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"hgvs_c": "n.269C>T",
"hgvs_p": null,
"transcript": "ENST00000519356.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 1671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"dbsnp": "rs138108276",
"frequency_reference_population": 0.0045916694,
"hom_count_reference_population": 19,
"allele_count_reference_population": 7411,
"gnomad_exomes_af": 0.00468333,
"gnomad_genomes_af": 0.00371149,
"gnomad_exomes_ac": 6846,
"gnomad_genomes_ac": 565,
"gnomad_exomes_homalt": 17,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.011873692274093628,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.519,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.188,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.541,
"phylop100way_prediction": "Uncertain_significance",
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000431156.7",
"gene_symbol": "TTI2",
"hgnc_id": 26262,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1063C>T",
"hgvs_p": "p.Arg355Cys"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}