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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: 13-110491408-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=110491408&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 110491408,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001846.4",
"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": 48,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "COL4A2",
"gene_hgnc_id": 2203,
"hgvs_c": "c.3454+68T>A",
"hgvs_p": null,
"transcript": "NM_001846.4",
"protein_id": "NP_001837.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1712,
"cds_start": null,
"cds_end": null,
"cds_length": 5139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000360467.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001846.4"
},
{
"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": 48,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "COL4A2",
"gene_hgnc_id": 2203,
"hgvs_c": "c.3454+68T>A",
"hgvs_p": null,
"transcript": "ENST00000360467.7",
"protein_id": "ENSP00000353654.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1712,
"cds_start": null,
"cds_end": null,
"cds_length": 5139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001846.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360467.7"
},
{
"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": 49,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "COL4A2",
"gene_hgnc_id": 2203,
"hgvs_c": "c.3535+68T>A",
"hgvs_p": null,
"transcript": "ENST00000714399.1",
"protein_id": "ENSP00000519666.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1739,
"cds_start": null,
"cds_end": null,
"cds_length": 5220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714399.1"
},
{
"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": 48,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "COL4A2",
"gene_hgnc_id": 2203,
"hgvs_c": "c.3454+68T>A",
"hgvs_p": null,
"transcript": "ENST00000400163.8",
"protein_id": "ENSP00000383027.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1712,
"cds_start": null,
"cds_end": null,
"cds_length": 5139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400163.8"
},
{
"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": 47,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "COL4A2",
"gene_hgnc_id": 2203,
"hgvs_c": "c.3454+68T>A",
"hgvs_p": null,
"transcript": "ENST00000907576.1",
"protein_id": "ENSP00000577635.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1712,
"cds_start": null,
"cds_end": null,
"cds_length": 5139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907576.1"
},
{
"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": 47,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "COL4A2",
"gene_hgnc_id": 2203,
"hgvs_c": "c.3439+68T>A",
"hgvs_p": null,
"transcript": "ENST00000907577.1",
"protein_id": "ENSP00000577636.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1707,
"cds_start": null,
"cds_end": null,
"cds_length": 5124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907577.1"
},
{
"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": 48,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "COL4A2",
"gene_hgnc_id": 2203,
"hgvs_c": "c.3415+68T>A",
"hgvs_p": null,
"transcript": "ENST00000907571.1",
"protein_id": "ENSP00000577630.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1699,
"cds_start": null,
"cds_end": null,
"cds_length": 5100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907571.1"
},
{
"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": 47,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "COL4A2",
"gene_hgnc_id": 2203,
"hgvs_c": "c.3454+68T>A",
"hgvs_p": null,
"transcript": "ENST00000907575.1",
"protein_id": "ENSP00000577634.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1663,
"cds_start": null,
"cds_end": null,
"cds_length": 4992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907575.1"
},
{
"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": 47,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "COL4A2",
"gene_hgnc_id": 2203,
"hgvs_c": "c.3454+68T>A",
"hgvs_p": null,
"transcript": "ENST00000480609.2",
"protein_id": "ENSP00000497080.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1651,
"cds_start": null,
"cds_end": null,
"cds_length": 4956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000480609.2"
},
{
"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": 37,
"intron_rank_end": null,
"gene_symbol": "COL4A2",
"gene_hgnc_id": 2203,
"hgvs_c": "c.3454+68T>A",
"hgvs_p": null,
"transcript": "ENST00000907573.1",
"protein_id": "ENSP00000577632.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1644,
"cds_start": null,
"cds_end": null,
"cds_length": 4935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907573.1"
},
{
"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": 47,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "COL4A2",
"gene_hgnc_id": 2203,
"hgvs_c": "c.3232+68T>A",
"hgvs_p": null,
"transcript": "ENST00000714396.1",
"protein_id": "ENSP00000519663.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1638,
"cds_start": null,
"cds_end": null,
"cds_length": 4917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714396.1"
},
{
"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": 37,
"intron_rank_end": null,
"gene_symbol": "COL4A2",
"gene_hgnc_id": 2203,
"hgvs_c": "c.3454+68T>A",
"hgvs_p": null,
"transcript": "ENST00000907574.1",
"protein_id": "ENSP00000577633.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1613,
"cds_start": null,
"cds_end": null,
"cds_length": 4842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907574.1"
},
{
"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": 45,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "COL4A2",
"gene_hgnc_id": 2203,
"hgvs_c": "c.3454+68T>A",
"hgvs_p": null,
"transcript": "ENST00000649951.2",
"protein_id": "ENSP00000497015.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1469,
"cds_start": null,
"cds_end": null,
"cds_length": 4410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649951.2"
},
{
"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": 35,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "COL4A2",
"gene_hgnc_id": 2203,
"hgvs_c": "c.2527+68T>A",
"hgvs_p": null,
"transcript": "ENST00000907572.1",
"protein_id": "ENSP00000577631.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1403,
"cds_start": null,
"cds_end": null,
"cds_length": 4212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907572.1"
},
{
"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": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "COL4A2",
"gene_hgnc_id": 2203,
"hgvs_c": "n.1109+68T>A",
"hgvs_p": null,
"transcript": "ENST00000650225.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000650225.1"
},
{
"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": 49,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "COL4A2",
"gene_hgnc_id": 2203,
"hgvs_c": "n.*190+68T>A",
"hgvs_p": null,
"transcript": "ENST00000714397.1",
"protein_id": "ENSP00000519664.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000714397.1"
},
{
"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": 49,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "COL4A2",
"gene_hgnc_id": 2203,
"hgvs_c": "n.*1175+68T>A",
"hgvs_p": null,
"transcript": "ENST00000714398.1",
"protein_id": "ENSP00000519665.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000714398.1"
}
],
"gene_symbol": "COL4A2",
"gene_hgnc_id": 2203,
"dbsnp": "rs413756",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8199999928474426,
"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": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.166,
"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_001846.4",
"gene_symbol": "COL4A2",
"hgnc_id": 2203,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3454+68T>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
}