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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: 1-113908685-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=113908685&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 113908685,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000650450.2",
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "c.538+494C>T",
"hgvs_p": null,
"transcript": "NM_022836.4",
"protein_id": "NP_073747.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 532,
"cds_start": -4,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3755,
"mane_select": "ENST00000650450.2",
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "c.538+494C>T",
"hgvs_p": null,
"transcript": "ENST00000650450.2",
"protein_id": "ENSP00000498042.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 532,
"cds_start": -4,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3755,
"mane_select": "NM_022836.4",
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "n.*153+494C>T",
"hgvs_p": null,
"transcript": "ENST00000466480.2",
"protein_id": "ENSP00000497696.1",
"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": 3199,
"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": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "c.355+1524C>T",
"hgvs_p": null,
"transcript": "ENST00000650596.1",
"protein_id": "ENSP00000497882.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 471,
"cds_start": -4,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1980,
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "c.538+494C>T",
"hgvs_p": null,
"transcript": "NM_001363690.2",
"protein_id": "NP_001350619.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 423,
"cds_start": -4,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3456,
"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": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "c.160+494C>T",
"hgvs_p": null,
"transcript": "NM_001319946.2",
"protein_id": "NP_001306875.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 406,
"cds_start": -4,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3589,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "c.160+494C>T",
"hgvs_p": null,
"transcript": "NM_001319947.2",
"protein_id": "NP_001306876.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 406,
"cds_start": -4,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3536,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "c.160+494C>T",
"hgvs_p": null,
"transcript": "NM_001363691.2",
"protein_id": "NP_001350620.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 297,
"cds_start": -4,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3290,
"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": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "n.*153+494C>T",
"hgvs_p": null,
"transcript": "ENST00000648795.1",
"protein_id": "ENSP00000497557.1",
"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": 1960,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "n.946+494C>T",
"hgvs_p": null,
"transcript": "ENST00000697126.1",
"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": 3872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"dbsnp": "rs1217390",
"frequency_reference_population": 0.6340873,
"hom_count_reference_population": 31002,
"allele_count_reference_population": 96432,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.634087,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 96432,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 31002,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9800000190734863,
"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": -0.98,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.084,
"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": "ENST00000650450.2",
"gene_symbol": "DCLRE1B",
"hgnc_id": 17641,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.538+494C>T",
"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
}