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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: 1-118884813-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=118884813&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 118884813,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001330677.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1728A>G",
"hgvs_p": "p.Gln576Gln",
"transcript": "NM_001330677.2",
"protein_id": "NP_001317606.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 602,
"cds_start": 1728,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 2276,
"cdna_end": null,
"cdna_length": 4042,
"mane_select": "ENST00000369429.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1728A>G",
"hgvs_p": "p.Gln576Gln",
"transcript": "ENST00000369429.5",
"protein_id": "ENSP00000358437.3",
"transcript_support_level": 5,
"aa_start": 576,
"aa_end": null,
"aa_length": 602,
"cds_start": 1728,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 2276,
"cdna_end": null,
"cdna_length": 4042,
"mane_select": "NM_001330677.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1410A>G",
"hgvs_p": "p.Gln470Gln",
"transcript": "ENST00000207157.7",
"protein_id": "ENSP00000207157.3",
"transcript_support_level": 1,
"aa_start": 470,
"aa_end": null,
"aa_length": 496,
"cds_start": 1410,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1725,
"cdna_end": null,
"cdna_length": 3492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1410A>G",
"hgvs_p": "p.Gln470Gln",
"transcript": "NM_152380.3",
"protein_id": "NP_689593.2",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 496,
"cds_start": 1410,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1679,
"cdna_end": null,
"cdna_length": 3445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.912A>G",
"hgvs_p": "p.Gln304Gln",
"transcript": "ENST00000449873.5",
"protein_id": "ENSP00000398625.1",
"transcript_support_level": 5,
"aa_start": 304,
"aa_end": null,
"aa_length": 330,
"cds_start": 912,
"cds_end": null,
"cds_length": 993,
"cdna_start": 912,
"cdna_end": null,
"cdna_length": 2678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.2016A>G",
"hgvs_p": "p.Gln672Gln",
"transcript": "XM_047429124.1",
"protein_id": "XP_047285080.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 698,
"cds_start": 2016,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 2234,
"cdna_end": null,
"cdna_length": 4000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1917A>G",
"hgvs_p": "p.Gln639Gln",
"transcript": "XM_047429131.1",
"protein_id": "XP_047285087.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 665,
"cds_start": 1917,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 2135,
"cdna_end": null,
"cdna_length": 3901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1827A>G",
"hgvs_p": "p.Gln609Gln",
"transcript": "XM_005271161.5",
"protein_id": "XP_005271218.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 635,
"cds_start": 1827,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2375,
"cdna_end": null,
"cdna_length": 4141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1509A>G",
"hgvs_p": "p.Gln503Gln",
"transcript": "XM_047429135.1",
"protein_id": "XP_047285091.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 529,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1911,
"cdna_end": null,
"cdna_length": 3677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1509A>G",
"hgvs_p": "p.Gln503Gln",
"transcript": "XM_047429137.1",
"protein_id": "XP_047285093.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 529,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1842,
"cdna_end": null,
"cdna_length": 3608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1410A>G",
"hgvs_p": "p.Gln470Gln",
"transcript": "XM_047429138.1",
"protein_id": "XP_047285094.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 496,
"cds_start": 1410,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1910,
"cdna_end": null,
"cdna_length": 3676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TBX15",
"gene_hgnc_id": 11594,
"dbsnp": "rs200564235",
"frequency_reference_population": 0.00037733276,
"hom_count_reference_population": 0,
"allele_count_reference_population": 609,
"gnomad_exomes_af": 0.000352289,
"gnomad_genomes_af": 0.000618047,
"gnomad_exomes_ac": 515,
"gnomad_genomes_ac": 94,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6399999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.138,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6,BP7",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001330677.2",
"gene_symbol": "TBX15",
"hgnc_id": 11594,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1728A>G",
"hgvs_p": "p.Gln576Gln"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}