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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: 1-118884865-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=118884865&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 118884865,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001330677.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"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.1676C>T",
"hgvs_p": "p.Pro559Leu",
"transcript": "NM_001330677.2",
"protein_id": "NP_001317606.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 602,
"cds_start": 1676,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 2224,
"cdna_end": null,
"cdna_length": 4042,
"mane_select": "ENST00000369429.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.1676C>T",
"hgvs_p": "p.Pro559Leu",
"transcript": "ENST00000369429.5",
"protein_id": "ENSP00000358437.3",
"transcript_support_level": 5,
"aa_start": 559,
"aa_end": null,
"aa_length": 602,
"cds_start": 1676,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 2224,
"cdna_end": null,
"cdna_length": 4042,
"mane_select": "NM_001330677.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.1358C>T",
"hgvs_p": "p.Pro453Leu",
"transcript": "ENST00000207157.7",
"protein_id": "ENSP00000207157.3",
"transcript_support_level": 1,
"aa_start": 453,
"aa_end": null,
"aa_length": 496,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1673,
"cdna_end": null,
"cdna_length": 3492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.1358C>T",
"hgvs_p": "p.Pro453Leu",
"transcript": "NM_152380.3",
"protein_id": "NP_689593.2",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 496,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1627,
"cdna_end": null,
"cdna_length": 3445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.860C>T",
"hgvs_p": "p.Pro287Leu",
"transcript": "ENST00000449873.5",
"protein_id": "ENSP00000398625.1",
"transcript_support_level": 5,
"aa_start": 287,
"aa_end": null,
"aa_length": 330,
"cds_start": 860,
"cds_end": null,
"cds_length": 993,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 2678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.1964C>T",
"hgvs_p": "p.Pro655Leu",
"transcript": "XM_047429124.1",
"protein_id": "XP_047285080.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 698,
"cds_start": 1964,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 2182,
"cdna_end": null,
"cdna_length": 4000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.1865C>T",
"hgvs_p": "p.Pro622Leu",
"transcript": "XM_047429131.1",
"protein_id": "XP_047285087.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 665,
"cds_start": 1865,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 2083,
"cdna_end": null,
"cdna_length": 3901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.1775C>T",
"hgvs_p": "p.Pro592Leu",
"transcript": "XM_005271161.5",
"protein_id": "XP_005271218.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 635,
"cds_start": 1775,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2323,
"cdna_end": null,
"cdna_length": 4141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.1457C>T",
"hgvs_p": "p.Pro486Leu",
"transcript": "XM_047429135.1",
"protein_id": "XP_047285091.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 529,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1859,
"cdna_end": null,
"cdna_length": 3677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.1457C>T",
"hgvs_p": "p.Pro486Leu",
"transcript": "XM_047429137.1",
"protein_id": "XP_047285093.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 529,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1790,
"cdna_end": null,
"cdna_length": 3608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.1358C>T",
"hgvs_p": "p.Pro453Leu",
"transcript": "XM_047429138.1",
"protein_id": "XP_047285094.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 496,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1858,
"cdna_end": null,
"cdna_length": 3676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TBX15",
"gene_hgnc_id": 11594,
"dbsnp": "rs1653871002",
"frequency_reference_population": 0.000012997159,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.0000129972,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4758750796318054,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.44,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2172,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.459,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001330677.2",
"gene_symbol": "TBX15",
"hgnc_id": 11594,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1676C>T",
"hgvs_p": "p.Pro559Leu"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}