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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: 3-114299639-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=114299639&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 114299639,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_173799.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIGIT",
"gene_hgnc_id": 26838,
"hgvs_c": "c.434C>A",
"hgvs_p": "p.Ala145Asp",
"transcript": "NM_173799.4",
"protein_id": "NP_776160.2",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 244,
"cds_start": 434,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000383671.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173799.4"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIGIT",
"gene_hgnc_id": 26838,
"hgvs_c": "c.434C>A",
"hgvs_p": "p.Ala145Asp",
"transcript": "ENST00000383671.8",
"protein_id": "ENSP00000373167.3",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 244,
"cds_start": 434,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_173799.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383671.8"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIGIT",
"gene_hgnc_id": 26838,
"hgvs_c": "c.635C>A",
"hgvs_p": "p.Ala212Asp",
"transcript": "ENST00000481065.5",
"protein_id": "ENSP00000420552.1",
"transcript_support_level": 2,
"aa_start": 212,
"aa_end": null,
"aa_length": 311,
"cds_start": 635,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481065.5"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIGIT",
"gene_hgnc_id": 26838,
"hgvs_c": "c.434C>A",
"hgvs_p": "p.Ala145Asp",
"transcript": "ENST00000486257.5",
"protein_id": "ENSP00000419085.1",
"transcript_support_level": 5,
"aa_start": 145,
"aa_end": null,
"aa_length": 244,
"cds_start": 434,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000486257.5"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIGIT",
"gene_hgnc_id": 26838,
"hgvs_c": "c.434C>A",
"hgvs_p": "p.Ala145Asp",
"transcript": "ENST00000891102.1",
"protein_id": "ENSP00000561161.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 243,
"cds_start": 434,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891102.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIGIT",
"gene_hgnc_id": 26838,
"hgvs_c": "c.371C>A",
"hgvs_p": "p.Ala124Asp",
"transcript": "ENST00000461158.5",
"protein_id": "ENSP00000418917.1",
"transcript_support_level": 4,
"aa_start": 124,
"aa_end": null,
"aa_length": 168,
"cds_start": 371,
"cds_end": null,
"cds_length": 508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000461158.5"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIGIT",
"gene_hgnc_id": 26838,
"hgvs_c": "c.371C>A",
"hgvs_p": "p.Ala124Asp",
"transcript": "ENST00000484319.1",
"protein_id": "ENSP00000419706.1",
"transcript_support_level": 4,
"aa_start": 124,
"aa_end": null,
"aa_length": 162,
"cds_start": 371,
"cds_end": null,
"cds_length": 490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000484319.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIGIT",
"gene_hgnc_id": 26838,
"hgvs_c": "c.104C>A",
"hgvs_p": "p.Ala35Asp",
"transcript": "ENST00000891103.1",
"protein_id": "ENSP00000561162.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 134,
"cds_start": 104,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891103.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIGIT",
"gene_hgnc_id": 26838,
"hgvs_c": "c.104C>A",
"hgvs_p": "p.Ala35Asp",
"transcript": "ENST00000891104.1",
"protein_id": "ENSP00000561163.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 133,
"cds_start": 104,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891104.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIGIT",
"gene_hgnc_id": 26838,
"hgvs_c": "c.434C>A",
"hgvs_p": "p.Ala145Asp",
"transcript": "XM_047447671.1",
"protein_id": "XP_047303627.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 243,
"cds_start": 434,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447671.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIGIT",
"gene_hgnc_id": 26838,
"hgvs_c": "c.71C>A",
"hgvs_p": "p.Ala24Asp",
"transcript": "XM_047447672.1",
"protein_id": "XP_047303628.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 123,
"cds_start": 71,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447672.1"
}
],
"gene_symbol": "TIGIT",
"gene_hgnc_id": 26838,
"dbsnp": "rs201218843",
"frequency_reference_population": 6.8442523e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84425e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2220291793346405,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.211,
"revel_prediction": "Benign",
"alphamissense_score": 0.5428,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.659,
"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_173799.4",
"gene_symbol": "TIGIT",
"hgnc_id": 26838,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.434C>A",
"hgvs_p": "p.Ala145Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}