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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: 18-63655815-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=63655815&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 63655815,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_006919.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB3",
"gene_hgnc_id": 10569,
"hgvs_c": "c.1015G>C",
"hgvs_p": "p.Glu339Gln",
"transcript": "NM_006919.3",
"protein_id": "NP_008850.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 390,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000283752.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006919.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB3",
"gene_hgnc_id": 10569,
"hgvs_c": "c.1015G>C",
"hgvs_p": "p.Glu339Gln",
"transcript": "ENST00000283752.10",
"protein_id": "ENSP00000283752.5",
"transcript_support_level": 1,
"aa_start": 339,
"aa_end": null,
"aa_length": 390,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006919.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000283752.10"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB3",
"gene_hgnc_id": 10569,
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Glu287Gln",
"transcript": "ENST00000332821.8",
"protein_id": "ENSP00000329498.8",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 338,
"cds_start": 859,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000332821.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB11",
"gene_hgnc_id": 14221,
"hgvs_c": "c.-177C>G",
"hgvs_p": null,
"transcript": "ENST00000489748.5",
"protein_id": "ENSP00000480275.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 180,
"cds_start": null,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000489748.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB3",
"gene_hgnc_id": 10569,
"hgvs_c": "c.1015G>C",
"hgvs_p": "p.Glu339Gln",
"transcript": "ENST00000864639.1",
"protein_id": "ENSP00000534698.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 390,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864639.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB3",
"gene_hgnc_id": 10569,
"hgvs_c": "c.1015G>C",
"hgvs_p": "p.Glu339Gln",
"transcript": "ENST00000943132.1",
"protein_id": "ENSP00000613191.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 390,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943132.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB3",
"gene_hgnc_id": 10569,
"hgvs_c": "c.1003G>C",
"hgvs_p": "p.Glu335Gln",
"transcript": "ENST00000864638.1",
"protein_id": "ENSP00000534697.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 386,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864638.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB3",
"gene_hgnc_id": 10569,
"hgvs_c": "c.952G>C",
"hgvs_p": "p.Glu318Gln",
"transcript": "ENST00000864640.1",
"protein_id": "ENSP00000534699.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 369,
"cds_start": 952,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864640.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB11",
"gene_hgnc_id": 14221,
"hgvs_c": "c.-177C>G",
"hgvs_p": null,
"transcript": "ENST00000489748.5",
"protein_id": "ENSP00000480275.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 180,
"cds_start": null,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000489748.5"
}
],
"gene_symbol": "SERPINB3",
"gene_hgnc_id": 10569,
"dbsnp": "rs1181629101",
"frequency_reference_population": 0.0000020523682,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205237,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6642109155654907,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.524,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2401,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.613,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006919.3",
"gene_symbol": "SERPINB3",
"hgnc_id": 10569,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1015G>C",
"hgvs_p": "p.Glu339Gln"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000489748.5",
"gene_symbol": "SERPINB11",
"hgnc_id": 14221,
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-177C>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}