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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: 12-120158915-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=120158915&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 120158915,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_006836.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "GCN1",
"gene_hgnc_id": 4199,
"hgvs_c": "c.2750-300T>A",
"hgvs_p": null,
"transcript": "NM_006836.2",
"protein_id": "NP_006827.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2671,
"cds_start": null,
"cds_end": null,
"cds_length": 8016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000300648.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006836.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "GCN1",
"gene_hgnc_id": 4199,
"hgvs_c": "c.2750-300T>A",
"hgvs_p": null,
"transcript": "ENST00000300648.7",
"protein_id": "ENSP00000300648.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2671,
"cds_start": null,
"cds_end": null,
"cds_length": 8016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006836.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300648.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "GCN1",
"gene_hgnc_id": 4199,
"hgvs_c": "c.2750-300T>A",
"hgvs_p": null,
"transcript": "ENST00000915860.1",
"protein_id": "ENSP00000585919.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2681,
"cds_start": null,
"cds_end": null,
"cds_length": 8046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915860.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "GCN1",
"gene_hgnc_id": 4199,
"hgvs_c": "c.2768-300T>A",
"hgvs_p": null,
"transcript": "ENST00000891846.1",
"protein_id": "ENSP00000561905.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2677,
"cds_start": null,
"cds_end": null,
"cds_length": 8034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891846.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "GCN1",
"gene_hgnc_id": 4199,
"hgvs_c": "c.2747-300T>A",
"hgvs_p": null,
"transcript": "ENST00000915864.1",
"protein_id": "ENSP00000585923.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2670,
"cds_start": null,
"cds_end": null,
"cds_length": 8013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915864.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "GCN1",
"gene_hgnc_id": 4199,
"hgvs_c": "c.2699-300T>A",
"hgvs_p": null,
"transcript": "ENST00000915863.1",
"protein_id": "ENSP00000585922.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2654,
"cds_start": null,
"cds_end": null,
"cds_length": 7965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915863.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "GCN1",
"gene_hgnc_id": 4199,
"hgvs_c": "c.2750-300T>A",
"hgvs_p": null,
"transcript": "ENST00000915862.1",
"protein_id": "ENSP00000585921.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2646,
"cds_start": null,
"cds_end": null,
"cds_length": 7941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915862.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "GCN1",
"gene_hgnc_id": 4199,
"hgvs_c": "c.2597-300T>A",
"hgvs_p": null,
"transcript": "ENST00000915859.1",
"protein_id": "ENSP00000585918.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2620,
"cds_start": null,
"cds_end": null,
"cds_length": 7863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915859.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "GCN1",
"gene_hgnc_id": 4199,
"hgvs_c": "c.2768-300T>A",
"hgvs_p": null,
"transcript": "ENST00000915857.1",
"protein_id": "ENSP00000585916.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2617,
"cds_start": null,
"cds_end": null,
"cds_length": 7854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915857.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "GCN1",
"gene_hgnc_id": 4199,
"hgvs_c": "c.2750-300T>A",
"hgvs_p": null,
"transcript": "ENST00000915858.1",
"protein_id": "ENSP00000585917.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2611,
"cds_start": null,
"cds_end": null,
"cds_length": 7836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915858.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "GCN1",
"gene_hgnc_id": 4199,
"hgvs_c": "c.2477-300T>A",
"hgvs_p": null,
"transcript": "ENST00000915861.1",
"protein_id": "ENSP00000585920.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2580,
"cds_start": null,
"cds_end": null,
"cds_length": 7743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915861.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GCN1",
"gene_hgnc_id": 4199,
"hgvs_c": "n.362-300T>A",
"hgvs_p": null,
"transcript": "ENST00000547369.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000547369.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GCN1",
"gene_hgnc_id": 4199,
"hgvs_c": "n.763-300T>A",
"hgvs_p": null,
"transcript": "ENST00000550471.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000550471.1"
}
],
"gene_symbol": "GCN1",
"gene_hgnc_id": 4199,
"dbsnp": "rs2240320",
"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": -0.9900000095367432,
"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": -0.99,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.884,
"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_006836.2",
"gene_symbol": "GCN1",
"hgnc_id": 4199,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2750-300T>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
}