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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: 5-14332216-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=14332216&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 14332216,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000344204.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"hgvs_c": "c.1854+1316T>A",
"hgvs_p": null,
"transcript": "NM_007118.4",
"protein_id": "NP_009049.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3097,
"cds_start": -4,
"cds_end": null,
"cds_length": 9294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11460,
"mane_select": "ENST00000344204.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"hgvs_c": "c.1854+1316T>A",
"hgvs_p": null,
"transcript": "ENST00000344204.9",
"protein_id": "ENSP00000339299.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 3097,
"cds_start": -4,
"cds_end": null,
"cds_length": 9294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11460,
"mane_select": "NM_007118.4",
"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": 43,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"hgvs_c": "n.772+1316T>A",
"hgvs_p": null,
"transcript": "ENST00000515144.5",
"protein_id": null,
"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": 7455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"hgvs_c": "c.1053+1316T>A",
"hgvs_p": null,
"transcript": "ENST00000513206.5",
"protein_id": "ENSP00000426342.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2546,
"cds_start": -4,
"cds_end": null,
"cds_length": 7641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"hgvs_c": "c.1854+1316T>A",
"hgvs_p": null,
"transcript": "ENST00000698541.1",
"protein_id": "ENSP00000513786.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1908,
"cds_start": -4,
"cds_end": null,
"cds_length": 5727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"hgvs_c": "c.1707+1316T>A",
"hgvs_p": null,
"transcript": "ENST00000509967.6",
"protein_id": "ENSP00000445592.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1508,
"cds_start": -4,
"cds_end": null,
"cds_length": 4527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"hgvs_c": "c.1725+1316T>A",
"hgvs_p": null,
"transcript": "ENST00000704488.1",
"protein_id": "ENSP00000515916.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 914,
"cds_start": -4,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3047,
"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": 57,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"hgvs_c": "n.1677+1316T>A",
"hgvs_p": null,
"transcript": "ENST00000512070.6",
"protein_id": "ENSP00000421555.2",
"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": 8907,
"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": 57,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"hgvs_c": "n.2238+1316T>A",
"hgvs_p": null,
"transcript": "NR_134469.2",
"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": 10930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"hgvs_c": "c.1854+1316T>A",
"hgvs_p": null,
"transcript": "XM_017009801.2",
"protein_id": "XP_016865290.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3093,
"cds_start": -4,
"cds_end": null,
"cds_length": 9282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"hgvs_c": "c.1791+1316T>A",
"hgvs_p": null,
"transcript": "XM_011514107.3",
"protein_id": "XP_011512409.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 3076,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"hgvs_c": "c.1791+1316T>A",
"hgvs_p": null,
"transcript": "XM_047417679.1",
"protein_id": "XP_047273635.1",
"transcript_support_level": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"hgvs_c": "c.1737+1316T>A",
"hgvs_p": null,
"transcript": "XM_011514108.2",
"protein_id": "XP_011512410.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"hgvs_c": "c.1707+1316T>A",
"hgvs_p": null,
"transcript": "XM_011514109.4",
"protein_id": "XP_011512411.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"hgvs_c": "c.1677+1316T>A",
"hgvs_p": null,
"transcript": "XM_011514110.4",
"protein_id": "XP_011512412.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"hgvs_c": "c.1854+1316T>A",
"hgvs_p": null,
"transcript": "XM_017009802.2",
"protein_id": "XP_016865291.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 56,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"hgvs_c": "c.1854+1316T>A",
"hgvs_p": null,
"transcript": "XM_047417681.1",
"protein_id": "XP_047273637.1",
"transcript_support_level": null,
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"hgvs_c": "c.399+1316T>A",
"hgvs_p": null,
"transcript": "XM_017009803.2",
"protein_id": "XP_016865292.1",
"transcript_support_level": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 9761,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"dbsnp": "rs30623",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.800000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.583,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "ENST00000344204.9",
"gene_symbol": "TRIO",
"hgnc_id": 12303,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1854+1316T>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}