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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: 11-126290931-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=126290931&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 126290931,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000392679.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Trp",
"transcript": "NM_001318777.2",
"protein_id": "NP_001305706.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 221,
"cds_start": 37,
"cds_end": null,
"cds_length": 666,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 2189,
"mane_select": "ENST00000392679.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Trp",
"transcript": "ENST00000392679.6",
"protein_id": "ENSP00000376446.1",
"transcript_support_level": 2,
"aa_start": 13,
"aa_end": null,
"aa_length": 221,
"cds_start": 37,
"cds_end": null,
"cds_length": 666,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 2189,
"mane_select": "NM_001318777.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Trp",
"transcript": "ENST00000392678.7",
"protein_id": "ENSP00000376445.3",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 235,
"cds_start": 37,
"cds_end": null,
"cds_length": 708,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 1264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Trp",
"transcript": "ENST00000392680.6",
"protein_id": "ENSP00000376447.2",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 221,
"cds_start": 37,
"cds_end": null,
"cds_length": 666,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 2068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "n.37C>T",
"hgvs_p": null,
"transcript": "ENST00000479770.2",
"protein_id": "ENSP00000436967.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Trp",
"transcript": "NM_001318776.2",
"protein_id": "NP_001305705.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 235,
"cds_start": 37,
"cds_end": null,
"cds_length": 708,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 1044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Trp",
"transcript": "NM_148910.3",
"protein_id": "NP_683708.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 235,
"cds_start": 37,
"cds_end": null,
"cds_length": 708,
"cdna_start": 483,
"cdna_end": null,
"cdna_length": 1213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Trp",
"transcript": "ENST00000700491.1",
"protein_id": "ENSP00000515019.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 235,
"cds_start": 37,
"cds_end": null,
"cds_length": 708,
"cdna_start": 313,
"cdna_end": null,
"cdna_length": 984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Trp",
"transcript": "ENST00000700492.1",
"protein_id": "ENSP00000515021.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 235,
"cds_start": 37,
"cds_end": null,
"cds_length": 708,
"cdna_start": 429,
"cdna_end": null,
"cdna_length": 1217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Trp",
"transcript": "NM_001039661.2",
"protein_id": "NP_001034750.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 221,
"cds_start": 37,
"cds_end": null,
"cds_length": 666,
"cdna_start": 467,
"cdna_end": null,
"cdna_length": 2342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Trp",
"transcript": "ENST00000700488.1",
"protein_id": "ENSP00000515016.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 221,
"cds_start": 37,
"cds_end": null,
"cds_length": 666,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 3548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Trp",
"transcript": "ENST00000700489.1",
"protein_id": "ENSP00000515017.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 221,
"cds_start": 37,
"cds_end": null,
"cds_length": 666,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 3646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Trp",
"transcript": "ENST00000700490.1",
"protein_id": "ENSP00000515018.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 221,
"cds_start": 37,
"cds_end": null,
"cds_length": 666,
"cdna_start": 237,
"cdna_end": null,
"cdna_length": 3337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Trp",
"transcript": "ENST00000700495.1",
"protein_id": "ENSP00000515022.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 28,
"cds_start": 37,
"cds_end": null,
"cds_length": 87,
"cdna_start": 244,
"cdna_end": null,
"cdna_length": 2765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "n.218C>T",
"hgvs_p": null,
"transcript": "ENST00000462401.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "n.37C>T",
"hgvs_p": null,
"transcript": "ENST00000488598.5",
"protein_id": "ENSP00000446213.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "n.1682C>T",
"hgvs_p": null,
"transcript": "ENST00000700493.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "n.1292C>T",
"hgvs_p": null,
"transcript": "ENST00000700494.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIRAP",
"gene_hgnc_id": 17192,
"hgvs_c": "c.*34C>T",
"hgvs_p": null,
"transcript": "ENST00000467006.6",
"protein_id": "ENSP00000515020.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 0,
"cds_start": -4,
"cds_end": null,
"cds_length": 3,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TIRAP",
"gene_hgnc_id": 17192,
"dbsnp": "rs8177399",
"frequency_reference_population": 0.018244205,
"hom_count_reference_population": 316,
"allele_count_reference_population": 29318,
"gnomad_exomes_af": 0.0186018,
"gnomad_genomes_af": 0.0148279,
"gnomad_exomes_ac": 27060,
"gnomad_genomes_ac": 2258,
"gnomad_exomes_homalt": 293,
"gnomad_genomes_homalt": 23,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0018643736839294434,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.144,
"revel_prediction": "Benign",
"alphamissense_score": 0.1112,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.078,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.14,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000392679.6",
"gene_symbol": "TIRAP",
"hgnc_id": 17192,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Trp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}