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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: 16-88881312-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=88881312&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 88881312,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005187.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBFA2T3",
"gene_hgnc_id": 1537,
"hgvs_c": "c.1381G>A",
"hgvs_p": "p.Gly461Ser",
"transcript": "NM_005187.6",
"protein_id": "NP_005178.4",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 653,
"cds_start": 1381,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 1781,
"cdna_end": null,
"cdna_length": 4480,
"mane_select": "ENST00000268679.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBFA2T3",
"gene_hgnc_id": 1537,
"hgvs_c": "c.1381G>A",
"hgvs_p": "p.Gly461Ser",
"transcript": "ENST00000268679.9",
"protein_id": "ENSP00000268679.4",
"transcript_support_level": 1,
"aa_start": 461,
"aa_end": null,
"aa_length": 653,
"cds_start": 1381,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 1781,
"cdna_end": null,
"cdna_length": 4480,
"mane_select": "NM_005187.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBFA2T3",
"gene_hgnc_id": 1537,
"hgvs_c": "c.1123G>A",
"hgvs_p": "p.Gly375Ser",
"transcript": "ENST00000327483.9",
"protein_id": "ENSP00000332122.5",
"transcript_support_level": 1,
"aa_start": 375,
"aa_end": null,
"aa_length": 567,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1334,
"cdna_end": null,
"cdna_length": 4033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBFA2T3",
"gene_hgnc_id": 1537,
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Gly400Ser",
"transcript": "ENST00000569464.5",
"protein_id": "ENSP00000454851.1",
"transcript_support_level": 1,
"aa_start": 400,
"aa_end": null,
"aa_length": 417,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1256,
"cdna_start": 1269,
"cdna_end": null,
"cdna_length": 1327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBFA2T3",
"gene_hgnc_id": 1537,
"hgvs_c": "c.1123G>A",
"hgvs_p": "p.Gly375Ser",
"transcript": "NM_175931.3",
"protein_id": "NP_787127.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 567,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1486,
"cdna_end": null,
"cdna_length": 4185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBFA2T3",
"gene_hgnc_id": 1537,
"hgvs_c": "c.1306G>A",
"hgvs_p": "p.Gly436Ser",
"transcript": "XM_005256323.6",
"protein_id": "XP_005256380.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 628,
"cds_start": 1306,
"cds_end": null,
"cds_length": 1887,
"cdna_start": 1706,
"cdna_end": null,
"cdna_length": 4405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBFA2T3",
"gene_hgnc_id": 1537,
"hgvs_c": "c.1381G>A",
"hgvs_p": "p.Gly461Ser",
"transcript": "XM_011523419.4",
"protein_id": "XP_011521721.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 558,
"cds_start": 1381,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1781,
"cdna_end": null,
"cdna_length": 2655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBFA2T3",
"gene_hgnc_id": 1537,
"hgvs_c": "c.1306G>A",
"hgvs_p": "p.Gly436Ser",
"transcript": "XM_047434826.1",
"protein_id": "XP_047290782.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 533,
"cds_start": 1306,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1706,
"cdna_end": null,
"cdna_length": 5421,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259881",
"gene_hgnc_id": null,
"hgvs_c": "n.56C>T",
"hgvs_p": null,
"transcript": "ENST00000562574.1",
"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": 557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBFA2T3",
"gene_hgnc_id": 1537,
"hgvs_c": "n.1G>A",
"hgvs_p": null,
"transcript": "ENST00000566868.1",
"protein_id": "ENSP00000464125.1",
"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,
"cdna_end": null,
"cdna_length": 284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBFA2T3",
"gene_hgnc_id": 1537,
"hgvs_c": "n.1781G>A",
"hgvs_p": null,
"transcript": "XR_007064926.1",
"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": 2262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259881",
"gene_hgnc_id": null,
"hgvs_c": "n.127+148C>T",
"hgvs_p": null,
"transcript": "ENST00000562405.1",
"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": 532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBFA2T3",
"gene_hgnc_id": 1537,
"hgvs_c": "n.-155G>A",
"hgvs_p": null,
"transcript": "ENST00000563856.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 2380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259881",
"gene_hgnc_id": null,
"hgvs_c": "n.-143C>T",
"hgvs_p": null,
"transcript": "ENST00000569249.1",
"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": 578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CBFA2T3",
"gene_hgnc_id": 1537,
"dbsnp": "rs772795593",
"frequency_reference_population": 0.000018245695,
"hom_count_reference_population": 0,
"allele_count_reference_population": 29,
"gnomad_exomes_af": 0.0000173947,
"gnomad_genomes_af": 0.0000262822,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04902791976928711,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.032,
"revel_prediction": "Benign",
"alphamissense_score": 0.0701,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.152,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_005187.6",
"gene_symbol": "CBFA2T3",
"hgnc_id": 1537,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1381G>A",
"hgvs_p": "p.Gly461Ser"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000562574.1",
"gene_symbol": "ENSG00000259881",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.56C>T",
"hgvs_p": null
}
],
"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
}