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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: 12-122598915-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=122598915&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 122598915,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000333479.12",
"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": 64,
"intron_rank": 44,
"intron_rank_end": null,
"gene_symbol": "KNTC1",
"gene_hgnc_id": 17255,
"hgvs_c": "c.4563+977T>A",
"hgvs_p": null,
"transcript": "NM_014708.6",
"protein_id": "NP_055523.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2209,
"cds_start": -4,
"cds_end": null,
"cds_length": 6630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6974,
"mane_select": "ENST00000333479.12",
"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": 64,
"intron_rank": 44,
"intron_rank_end": null,
"gene_symbol": "KNTC1",
"gene_hgnc_id": 17255,
"hgvs_c": "c.4563+977T>A",
"hgvs_p": null,
"transcript": "ENST00000333479.12",
"protein_id": "ENSP00000328236.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2209,
"cds_start": -4,
"cds_end": null,
"cds_length": 6630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6974,
"mane_select": "NM_014708.6",
"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": 39,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "KNTC1",
"gene_hgnc_id": 17255,
"hgvs_c": "c.2272-10469T>A",
"hgvs_p": null,
"transcript": "ENST00000450485.6",
"protein_id": "ENSP00000397992.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1134,
"cds_start": -4,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3655,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KNTC1",
"gene_hgnc_id": 17255,
"hgvs_c": "c.240+977T>A",
"hgvs_p": null,
"transcript": "ENST00000423927.2",
"protein_id": "ENSP00000397140.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 103,
"cds_start": -4,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1250,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KNTC1",
"gene_hgnc_id": 17255,
"hgvs_c": "n.696+977T>A",
"hgvs_p": null,
"transcript": "ENST00000377192.6",
"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": 1519,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KNTC1",
"gene_hgnc_id": 17255,
"hgvs_c": "n.478-3654T>A",
"hgvs_p": null,
"transcript": "ENST00000535186.1",
"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": 553,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KNTC1",
"gene_hgnc_id": 17255,
"hgvs_c": "n.681+977T>A",
"hgvs_p": null,
"transcript": "ENST00000545065.1",
"protein_id": null,
"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": 782,
"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": 64,
"intron_rank": 44,
"intron_rank_end": null,
"gene_symbol": "KNTC1",
"gene_hgnc_id": 17255,
"hgvs_c": "c.4563+977T>A",
"hgvs_p": null,
"transcript": "XM_006719706.3",
"protein_id": "XP_006719769.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2209,
"cds_start": -4,
"cds_end": null,
"cds_length": 6630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6943,
"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": 64,
"intron_rank": 44,
"intron_rank_end": null,
"gene_symbol": "KNTC1",
"gene_hgnc_id": 17255,
"hgvs_c": "c.4563+977T>A",
"hgvs_p": null,
"transcript": "XM_011539027.4",
"protein_id": "XP_011537329.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2183,
"cds_start": -4,
"cds_end": null,
"cds_length": 6552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6865,
"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": 63,
"intron_rank": 44,
"intron_rank_end": null,
"gene_symbol": "KNTC1",
"gene_hgnc_id": 17255,
"hgvs_c": "c.4563+977T>A",
"hgvs_p": null,
"transcript": "XM_017020254.3",
"protein_id": "XP_016875743.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2179,
"cds_start": -4,
"cds_end": null,
"cds_length": 6540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6853,
"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": 63,
"intron_rank": 44,
"intron_rank_end": null,
"gene_symbol": "KNTC1",
"gene_hgnc_id": 17255,
"hgvs_c": "c.4563+977T>A",
"hgvs_p": null,
"transcript": "XM_047429917.1",
"protein_id": "XP_047285873.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2153,
"cds_start": -4,
"cds_end": null,
"cds_length": 6462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6775,
"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": 63,
"intron_rank": 43,
"intron_rank_end": null,
"gene_symbol": "KNTC1",
"gene_hgnc_id": 17255,
"hgvs_c": "c.4107+977T>A",
"hgvs_p": null,
"transcript": "XM_017020255.3",
"protein_id": "XP_016875744.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2057,
"cds_start": -4,
"cds_end": null,
"cds_length": 6174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6772,
"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": 46,
"intron_rank": 44,
"intron_rank_end": null,
"gene_symbol": "KNTC1",
"gene_hgnc_id": 17255,
"hgvs_c": "c.4563+977T>A",
"hgvs_p": null,
"transcript": "XM_011539029.4",
"protein_id": "XP_011537331.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1553,
"cds_start": -4,
"cds_end": null,
"cds_length": 4662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4934,
"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": 44,
"intron_rank": 43,
"intron_rank_end": null,
"gene_symbol": "KNTC1",
"gene_hgnc_id": 17255,
"hgvs_c": "c.4356-2621T>A",
"hgvs_p": null,
"transcript": "XM_047429918.1",
"protein_id": "XP_047285874.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1459,
"cds_start": -4,
"cds_end": null,
"cds_length": 4380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4555,
"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": 44,
"intron_rank": 43,
"intron_rank_end": null,
"gene_symbol": "KNTC1",
"gene_hgnc_id": 17255,
"hgvs_c": "c.4356-3654T>A",
"hgvs_p": null,
"transcript": "XM_024449285.2",
"protein_id": "XP_024305053.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1453,
"cds_start": -4,
"cds_end": null,
"cds_length": 4362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KNTC1",
"gene_hgnc_id": 17255,
"dbsnp": "rs11058879",
"frequency_reference_population": 0.011190347,
"hom_count_reference_population": 15,
"allele_count_reference_population": 1701,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0111903,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1701,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 15,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9300000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.93,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.513,
"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": -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": "ENST00000333479.12",
"gene_symbol": "KNTC1",
"hgnc_id": 17255,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4563+977T>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
}