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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: 5-14364638-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=14364638&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 14364638,
"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": 14,
"intron_rank_end": null,
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"hgvs_c": "c.2588-12T>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": 14,
"intron_rank_end": null,
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"hgvs_c": "c.2588-12T>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": 9,
"intron_rank_end": null,
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"hgvs_c": "n.1506-12T>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": 10,
"intron_rank_end": null,
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"hgvs_c": "c.1787-12T>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": 14,
"intron_rank_end": null,
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"hgvs_c": "c.2588-12T>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": 14,
"intron_rank_end": null,
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"hgvs_c": "c.2441-12T>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": 15,
"intron_rank_end": null,
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"hgvs_c": "c.2459-12T>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": 14,
"intron_rank_end": null,
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"hgvs_c": "n.2411-12T>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": 14,
"intron_rank_end": null,
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"hgvs_c": "n.2972-12T>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": 14,
"intron_rank_end": null,
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"hgvs_c": "c.2588-12T>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": 14,
"intron_rank_end": null,
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"hgvs_c": "c.2525-12T>A",
"hgvs_p": null,
"transcript": "XM_011514107.3",
"protein_id": "XP_011512409.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3076,
"cds_start": -4,
"cds_end": null,
"cds_length": 9231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 31153,
"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": 58,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"hgvs_c": "c.2525-12T>A",
"hgvs_p": null,
"transcript": "XM_047417679.1",
"protein_id": "XP_047273635.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3076,
"cds_start": -4,
"cds_end": null,
"cds_length": 9231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11609,
"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": 14,
"intron_rank_end": null,
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"hgvs_c": "c.2471-12T>A",
"hgvs_p": null,
"transcript": "XM_011514108.2",
"protein_id": "XP_011512410.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3058,
"cds_start": -4,
"cds_end": null,
"cds_length": 9177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11135,
"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": 14,
"intron_rank_end": null,
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"hgvs_c": "c.2441-12T>A",
"hgvs_p": null,
"transcript": "XM_011514109.4",
"protein_id": "XP_011512411.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3048,
"cds_start": -4,
"cds_end": null,
"cds_length": 9147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 38102,
"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": 14,
"intron_rank_end": null,
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"hgvs_c": "c.2411-12T>A",
"hgvs_p": null,
"transcript": "XM_011514110.4",
"protein_id": "XP_011512412.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3038,
"cds_start": -4,
"cds_end": null,
"cds_length": 9117,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11588,
"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": 56,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"hgvs_c": "c.2588-12T>A",
"hgvs_p": null,
"transcript": "XM_017009802.2",
"protein_id": "XP_016865291.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2880,
"cds_start": -4,
"cds_end": null,
"cds_length": 8643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11321,
"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": 56,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"hgvs_c": "c.2588-12T>A",
"hgvs_p": null,
"transcript": "XM_047417681.1",
"protein_id": "XP_047273637.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2876,
"cds_start": -4,
"cds_end": null,
"cds_length": 8631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11309,
"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": 50,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"hgvs_c": "c.1133-12T>A",
"hgvs_p": null,
"transcript": "XM_017009803.2",
"protein_id": "XP_016865292.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2612,
"cds_start": -4,
"cds_end": null,
"cds_length": 7839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRIO",
"gene_hgnc_id": 12303,
"dbsnp": "rs146739260",
"frequency_reference_population": 0.0077469144,
"hom_count_reference_population": 92,
"allele_count_reference_population": 12432,
"gnomad_exomes_af": 0.00798303,
"gnomad_genomes_af": 0.0054953,
"gnomad_exomes_ac": 11595,
"gnomad_genomes_ac": 837,
"gnomad_exomes_homalt": 84,
"gnomad_genomes_homalt": 8,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7699999809265137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.25,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.878,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0720837695699292,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000344204.9",
"gene_symbol": "TRIO",
"hgnc_id": 12303,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2588-12T>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}