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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: 22-26182255-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=26182255&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 26182255,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000248933.11",
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEZ6L",
"gene_hgnc_id": 10763,
"hgvs_c": "c.94+12492C>G",
"hgvs_p": null,
"transcript": "NM_021115.5",
"protein_id": "NP_066938.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1024,
"cds_start": -4,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6584,
"mane_select": "ENST00000248933.11",
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEZ6L",
"gene_hgnc_id": 10763,
"hgvs_c": "c.94+12492C>G",
"hgvs_p": null,
"transcript": "ENST00000248933.11",
"protein_id": "ENSP00000248933.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1024,
"cds_start": -4,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6584,
"mane_select": "NM_021115.5",
"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": 1,
"intron_rank_end": null,
"gene_symbol": "SEZ6L",
"gene_hgnc_id": 10763,
"hgvs_c": "c.94+12492C>G",
"hgvs_p": null,
"transcript": "ENST00000404234.7",
"protein_id": "ENSP00000384772.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1023,
"cds_start": -4,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3444,
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEZ6L",
"gene_hgnc_id": 10763,
"hgvs_c": "c.94+12492C>G",
"hgvs_p": null,
"transcript": "ENST00000629590.2",
"protein_id": "ENSP00000485720.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1013,
"cds_start": -4,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3215,
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEZ6L",
"gene_hgnc_id": 10763,
"hgvs_c": "c.94+12492C>G",
"hgvs_p": null,
"transcript": "ENST00000529632.6",
"protein_id": "ENSP00000437037.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1011,
"cds_start": -4,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6534,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEZ6L",
"gene_hgnc_id": 10763,
"hgvs_c": "c.94+12492C>G",
"hgvs_p": null,
"transcript": "ENST00000360929.7",
"protein_id": "ENSP00000354185.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 949,
"cds_start": -4,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6307,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEZ6L",
"gene_hgnc_id": 10763,
"hgvs_c": "c.94+12492C>G",
"hgvs_p": null,
"transcript": "ENST00000343706.8",
"protein_id": "ENSP00000342661.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 948,
"cds_start": -4,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2898,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "SEZ6L",
"gene_hgnc_id": 10763,
"hgvs_c": "c.94+12492C>G",
"hgvs_p": null,
"transcript": "NM_001184773.2",
"protein_id": "NP_001171702.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1023,
"cds_start": -4,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6581,
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEZ6L",
"gene_hgnc_id": 10763,
"hgvs_c": "c.94+12492C>G",
"hgvs_p": null,
"transcript": "NM_001184774.2",
"protein_id": "NP_001171703.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1013,
"cds_start": -4,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6551,
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEZ6L",
"gene_hgnc_id": 10763,
"hgvs_c": "c.94+12492C>G",
"hgvs_p": null,
"transcript": "NM_001184775.2",
"protein_id": "NP_001171704.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1011,
"cds_start": -4,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6545,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEZ6L",
"gene_hgnc_id": 10763,
"hgvs_c": "c.94+12492C>G",
"hgvs_p": null,
"transcript": "NM_001184776.2",
"protein_id": "NP_001171705.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 949,
"cds_start": -4,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6359,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEZ6L",
"gene_hgnc_id": 10763,
"hgvs_c": "c.94+12492C>G",
"hgvs_p": null,
"transcript": "NM_001184777.2",
"protein_id": "NP_001171706.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 948,
"cds_start": -4,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SEZ6L",
"gene_hgnc_id": 10763,
"dbsnp": "rs17299838",
"frequency_reference_population": 0.07029249,
"hom_count_reference_population": 475,
"allele_count_reference_population": 10704,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0702925,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 10704,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 475,
"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": -2.517,
"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,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000248933.11",
"gene_symbol": "SEZ6L",
"hgnc_id": 10763,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.94+12492C>G",
"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
}