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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: 3-155690413-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=155690413&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 155690413,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000460012.7",
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.79+13733T>G",
"hgvs_p": null,
"transcript": "NM_014996.4",
"protein_id": "NP_055811.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1685,
"cds_start": -4,
"cds_end": null,
"cds_length": 5058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6417,
"mane_select": "ENST00000460012.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.79+13733T>G",
"hgvs_p": null,
"transcript": "ENST00000460012.7",
"protein_id": "ENSP00000417502.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1685,
"cds_start": -4,
"cds_end": null,
"cds_length": 5058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6417,
"mane_select": "NM_014996.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.-12+13733T>G",
"hgvs_p": null,
"transcript": "ENST00000334686.6",
"protein_id": "ENSP00000335469.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1655,
"cds_start": -4,
"cds_end": null,
"cds_length": 4968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.79+13733T>G",
"hgvs_p": null,
"transcript": "NM_001349251.2",
"protein_id": "NP_001336180.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1684,
"cds_start": -4,
"cds_end": null,
"cds_length": 5055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 25,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.79+13733T>G",
"hgvs_p": null,
"transcript": "NM_001349252.2",
"protein_id": "NP_001336181.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1014,
"cds_start": -4,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.79+13733T>G",
"hgvs_p": null,
"transcript": "XM_005247238.2",
"protein_id": "XP_005247295.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1705,
"cds_start": -4,
"cds_end": null,
"cds_length": 5118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.79+13733T>G",
"hgvs_p": null,
"transcript": "XM_011512560.4",
"protein_id": "XP_011510862.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1705,
"cds_start": -4,
"cds_end": null,
"cds_length": 5118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.79+13733T>G",
"hgvs_p": null,
"transcript": "XM_011512561.3",
"protein_id": "XP_011510863.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1705,
"cds_start": -4,
"cds_end": null,
"cds_length": 5118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 25,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.79+13733T>G",
"hgvs_p": null,
"transcript": "XM_011512562.4",
"protein_id": "XP_011510864.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1705,
"cds_start": -4,
"cds_end": null,
"cds_length": 5118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.79+13733T>G",
"hgvs_p": null,
"transcript": "XM_017005923.2",
"protein_id": "XP_016861412.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1704,
"cds_start": -4,
"cds_end": null,
"cds_length": 5115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.79+13733T>G",
"hgvs_p": null,
"transcript": "XM_017005925.2",
"protein_id": "XP_016861414.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1681,
"cds_start": -4,
"cds_end": null,
"cds_length": 5046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.79+13733T>G",
"hgvs_p": null,
"transcript": "XM_047447745.1",
"protein_id": "XP_047303701.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1680,
"cds_start": -4,
"cds_end": null,
"cds_length": 5043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.79+13733T>G",
"hgvs_p": null,
"transcript": "XM_047447746.1",
"protein_id": "XP_047303702.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1661,
"cds_start": -4,
"cds_end": null,
"cds_length": 4986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.79+13733T>G",
"hgvs_p": null,
"transcript": "XM_047447747.1",
"protein_id": "XP_047303703.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1660,
"cds_start": -4,
"cds_end": null,
"cds_length": 4983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.79+13733T>G",
"hgvs_p": null,
"transcript": "XM_017005927.2",
"protein_id": "XP_016861416.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1021,
"cds_start": -4,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"dbsnp": "rs358912",
"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": -0.8299999833106995,
"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": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.538,
"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": "ENST00000460012.7",
"gene_symbol": "PLCH1",
"hgnc_id": 29185,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.79+13733T>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
}