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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: 11-57302172-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=57302172&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 57302172,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_033396.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNKS1BP1",
"gene_hgnc_id": 19081,
"hgvs_c": "c.4736G>A",
"hgvs_p": "p.Arg1579His",
"transcript": "NM_033396.3",
"protein_id": "NP_203754.2",
"transcript_support_level": null,
"aa_start": 1579,
"aa_end": null,
"aa_length": 1729,
"cds_start": 4736,
"cds_end": null,
"cds_length": 5190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358252.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033396.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNKS1BP1",
"gene_hgnc_id": 19081,
"hgvs_c": "c.4736G>A",
"hgvs_p": "p.Arg1579His",
"transcript": "ENST00000358252.8",
"protein_id": "ENSP00000350990.3",
"transcript_support_level": 1,
"aa_start": 1579,
"aa_end": null,
"aa_length": 1729,
"cds_start": 4736,
"cds_end": null,
"cds_length": 5190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033396.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358252.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNKS1BP1",
"gene_hgnc_id": 19081,
"hgvs_c": "c.4736G>A",
"hgvs_p": "p.Arg1579His",
"transcript": "ENST00000532437.1",
"protein_id": "ENSP00000437271.1",
"transcript_support_level": 1,
"aa_start": 1579,
"aa_end": null,
"aa_length": 1729,
"cds_start": 4736,
"cds_end": null,
"cds_length": 5190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532437.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TNKS1BP1",
"gene_hgnc_id": 19081,
"hgvs_c": "n.*3103-2211G>A",
"hgvs_p": null,
"transcript": "ENST00000528882.5",
"protein_id": "ENSP00000431616.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000528882.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNKS1BP1",
"gene_hgnc_id": 19081,
"hgvs_c": "c.4736G>A",
"hgvs_p": "p.Arg1579His",
"transcript": "ENST00000963515.1",
"protein_id": "ENSP00000633574.1",
"transcript_support_level": null,
"aa_start": 1579,
"aa_end": null,
"aa_length": 1744,
"cds_start": 4736,
"cds_end": null,
"cds_length": 5235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963515.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNKS1BP1",
"gene_hgnc_id": 19081,
"hgvs_c": "c.4739G>A",
"hgvs_p": "p.Arg1580His",
"transcript": "ENST00000873604.1",
"protein_id": "ENSP00000543663.1",
"transcript_support_level": null,
"aa_start": 1580,
"aa_end": null,
"aa_length": 1730,
"cds_start": 4739,
"cds_end": null,
"cds_length": 5193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873604.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNKS1BP1",
"gene_hgnc_id": 19081,
"hgvs_c": "c.4736G>A",
"hgvs_p": "p.Arg1579His",
"transcript": "ENST00000931552.1",
"protein_id": "ENSP00000601611.1",
"transcript_support_level": null,
"aa_start": 1579,
"aa_end": null,
"aa_length": 1729,
"cds_start": 4736,
"cds_end": null,
"cds_length": 5190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931552.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNKS1BP1",
"gene_hgnc_id": 19081,
"hgvs_c": "c.4736G>A",
"hgvs_p": "p.Arg1579His",
"transcript": "ENST00000931553.1",
"protein_id": "ENSP00000601612.1",
"transcript_support_level": null,
"aa_start": 1579,
"aa_end": null,
"aa_length": 1729,
"cds_start": 4736,
"cds_end": null,
"cds_length": 5190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931553.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNKS1BP1",
"gene_hgnc_id": 19081,
"hgvs_c": "c.4736G>A",
"hgvs_p": "p.Arg1579His",
"transcript": "ENST00000963512.1",
"protein_id": "ENSP00000633571.1",
"transcript_support_level": null,
"aa_start": 1579,
"aa_end": null,
"aa_length": 1729,
"cds_start": 4736,
"cds_end": null,
"cds_length": 5190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963512.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNKS1BP1",
"gene_hgnc_id": 19081,
"hgvs_c": "c.4736G>A",
"hgvs_p": "p.Arg1579His",
"transcript": "ENST00000963517.1",
"protein_id": "ENSP00000633576.1",
"transcript_support_level": null,
"aa_start": 1579,
"aa_end": null,
"aa_length": 1729,
"cds_start": 4736,
"cds_end": null,
"cds_length": 5190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963517.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNKS1BP1",
"gene_hgnc_id": 19081,
"hgvs_c": "c.4733G>A",
"hgvs_p": "p.Arg1578His",
"transcript": "ENST00000963514.1",
"protein_id": "ENSP00000633573.1",
"transcript_support_level": null,
"aa_start": 1578,
"aa_end": null,
"aa_length": 1728,
"cds_start": 4733,
"cds_end": null,
"cds_length": 5187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963514.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNKS1BP1",
"gene_hgnc_id": 19081,
"hgvs_c": "c.4376G>A",
"hgvs_p": "p.Arg1459His",
"transcript": "ENST00000963516.1",
"protein_id": "ENSP00000633575.1",
"transcript_support_level": null,
"aa_start": 1459,
"aa_end": null,
"aa_length": 1609,
"cds_start": 4376,
"cds_end": null,
"cds_length": 4830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963516.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNKS1BP1",
"gene_hgnc_id": 19081,
"hgvs_c": "c.3761G>A",
"hgvs_p": "p.Arg1254His",
"transcript": "ENST00000963513.1",
"protein_id": "ENSP00000633572.1",
"transcript_support_level": null,
"aa_start": 1254,
"aa_end": null,
"aa_length": 1404,
"cds_start": 3761,
"cds_end": null,
"cds_length": 4215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963513.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNKS1BP1",
"gene_hgnc_id": 19081,
"hgvs_c": "c.4736G>A",
"hgvs_p": "p.Arg1579His",
"transcript": "XM_006718725.4",
"protein_id": "XP_006718788.1",
"transcript_support_level": null,
"aa_start": 1579,
"aa_end": null,
"aa_length": 1729,
"cds_start": 4736,
"cds_end": null,
"cds_length": 5190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006718725.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNKS1BP1",
"gene_hgnc_id": 19081,
"hgvs_c": "c.2708G>A",
"hgvs_p": "p.Arg903His",
"transcript": "XM_047427785.1",
"protein_id": "XP_047283741.1",
"transcript_support_level": null,
"aa_start": 903,
"aa_end": null,
"aa_length": 1053,
"cds_start": 2708,
"cds_end": null,
"cds_length": 3162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427785.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNKS1BP1",
"gene_hgnc_id": 19081,
"hgvs_c": "n.1074G>A",
"hgvs_p": null,
"transcript": "ENST00000427750.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000427750.2"
}
],
"gene_symbol": "TNKS1BP1",
"gene_hgnc_id": 19081,
"dbsnp": "rs1209439480",
"frequency_reference_population": 0.000016736463,
"hom_count_reference_population": 0,
"allele_count_reference_population": 27,
"gnomad_exomes_af": 0.0000171103,
"gnomad_genomes_af": 0.0000131463,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.40412622690200806,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.104,
"revel_prediction": "Benign",
"alphamissense_score": 0.6801,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.148,
"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": 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_033396.3",
"gene_symbol": "TNKS1BP1",
"hgnc_id": 19081,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4736G>A",
"hgvs_p": "p.Arg1579His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}