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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: 1-118884871-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=118884871&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 118884871,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001330677.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX15",
"gene_hgnc_id": 11594,
"hgvs_c": "c.1670A>G",
"hgvs_p": "p.Tyr557Cys",
"transcript": "NM_001330677.2",
"protein_id": "NP_001317606.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 602,
"cds_start": 1670,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 2218,
"cdna_end": null,
"cdna_length": 4042,
"mane_select": "ENST00000369429.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX15",
"gene_hgnc_id": 11594,
"hgvs_c": "c.1670A>G",
"hgvs_p": "p.Tyr557Cys",
"transcript": "ENST00000369429.5",
"protein_id": "ENSP00000358437.3",
"transcript_support_level": 5,
"aa_start": 557,
"aa_end": null,
"aa_length": 602,
"cds_start": 1670,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 2218,
"cdna_end": null,
"cdna_length": 4042,
"mane_select": "NM_001330677.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX15",
"gene_hgnc_id": 11594,
"hgvs_c": "c.1352A>G",
"hgvs_p": "p.Tyr451Cys",
"transcript": "ENST00000207157.7",
"protein_id": "ENSP00000207157.3",
"transcript_support_level": 1,
"aa_start": 451,
"aa_end": null,
"aa_length": 496,
"cds_start": 1352,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1667,
"cdna_end": null,
"cdna_length": 3492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX15",
"gene_hgnc_id": 11594,
"hgvs_c": "c.1352A>G",
"hgvs_p": "p.Tyr451Cys",
"transcript": "NM_152380.3",
"protein_id": "NP_689593.2",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 496,
"cds_start": 1352,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1621,
"cdna_end": null,
"cdna_length": 3445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX15",
"gene_hgnc_id": 11594,
"hgvs_c": "c.854A>G",
"hgvs_p": "p.Tyr285Cys",
"transcript": "ENST00000449873.5",
"protein_id": "ENSP00000398625.1",
"transcript_support_level": 5,
"aa_start": 285,
"aa_end": null,
"aa_length": 330,
"cds_start": 854,
"cds_end": null,
"cds_length": 993,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 2678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX15",
"gene_hgnc_id": 11594,
"hgvs_c": "c.1958A>G",
"hgvs_p": "p.Tyr653Cys",
"transcript": "XM_047429124.1",
"protein_id": "XP_047285080.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 698,
"cds_start": 1958,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 2176,
"cdna_end": null,
"cdna_length": 4000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX15",
"gene_hgnc_id": 11594,
"hgvs_c": "c.1859A>G",
"hgvs_p": "p.Tyr620Cys",
"transcript": "XM_047429131.1",
"protein_id": "XP_047285087.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 665,
"cds_start": 1859,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 2077,
"cdna_end": null,
"cdna_length": 3901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX15",
"gene_hgnc_id": 11594,
"hgvs_c": "c.1769A>G",
"hgvs_p": "p.Tyr590Cys",
"transcript": "XM_005271161.5",
"protein_id": "XP_005271218.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 635,
"cds_start": 1769,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2317,
"cdna_end": null,
"cdna_length": 4141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX15",
"gene_hgnc_id": 11594,
"hgvs_c": "c.1451A>G",
"hgvs_p": "p.Tyr484Cys",
"transcript": "XM_047429135.1",
"protein_id": "XP_047285091.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 529,
"cds_start": 1451,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1853,
"cdna_end": null,
"cdna_length": 3677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX15",
"gene_hgnc_id": 11594,
"hgvs_c": "c.1451A>G",
"hgvs_p": "p.Tyr484Cys",
"transcript": "XM_047429137.1",
"protein_id": "XP_047285093.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 529,
"cds_start": 1451,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1784,
"cdna_end": null,
"cdna_length": 3608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX15",
"gene_hgnc_id": 11594,
"hgvs_c": "c.1352A>G",
"hgvs_p": "p.Tyr451Cys",
"transcript": "XM_047429138.1",
"protein_id": "XP_047285094.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 496,
"cds_start": 1352,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1852,
"cdna_end": null,
"cdna_length": 3676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TBX15",
"gene_hgnc_id": 11594,
"dbsnp": "rs1571141808",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.31831303238868713,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.423,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.156,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.552,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001330677.2",
"gene_symbol": "TBX15",
"hgnc_id": 11594,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1670A>G",
"hgvs_p": "p.Tyr557Cys"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}