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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: 14-94446367-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=94446367&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 94446367,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001080451.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA11",
"gene_hgnc_id": 19193,
"hgvs_c": "c.881A>G",
"hgvs_p": "p.Gln294Arg",
"transcript": "NM_001080451.2",
"protein_id": "NP_001073920.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 422,
"cds_start": 881,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 1486,
"mane_select": "ENST00000334708.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080451.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA11",
"gene_hgnc_id": 19193,
"hgvs_c": "c.881A>G",
"hgvs_p": "p.Gln294Arg",
"transcript": "ENST00000334708.4",
"protein_id": "ENSP00000335024.3",
"transcript_support_level": 1,
"aa_start": 294,
"aa_end": null,
"aa_length": 422,
"cds_start": 881,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 1486,
"mane_select": "NM_001080451.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334708.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA11",
"gene_hgnc_id": 19193,
"hgvs_c": "c.890A>G",
"hgvs_p": "p.Gln297Arg",
"transcript": "ENST00000850861.1",
"protein_id": "ENSP00000520948.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 425,
"cds_start": 890,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 950,
"cdna_end": null,
"cdna_length": 1480,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000850861.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA11",
"gene_hgnc_id": 19193,
"hgvs_c": "c.881A>G",
"hgvs_p": "p.Gln294Arg",
"transcript": "ENST00000905969.1",
"protein_id": "ENSP00000576028.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 422,
"cds_start": 881,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 1505,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905969.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA11",
"gene_hgnc_id": 19193,
"hgvs_c": "c.881A>G",
"hgvs_p": "p.Gln294Arg",
"transcript": "ENST00000962370.1",
"protein_id": "ENSP00000632429.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 414,
"cds_start": 881,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 1484,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962370.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA11",
"gene_hgnc_id": 19193,
"hgvs_c": "c.725A>G",
"hgvs_p": "p.Gln242Arg",
"transcript": "ENST00000905970.1",
"protein_id": "ENSP00000576029.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 370,
"cds_start": 725,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 1301,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905970.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA11",
"gene_hgnc_id": 19193,
"hgvs_c": "c.269A>G",
"hgvs_p": "p.Gln90Arg",
"transcript": "NM_001429948.1",
"protein_id": "NP_001416877.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 218,
"cds_start": 269,
"cds_end": null,
"cds_length": 657,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001429948.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000256357",
"gene_hgnc_id": null,
"hgvs_c": "n.171+14626T>C",
"hgvs_p": null,
"transcript": "ENST00000536735.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 568,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000536735.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000256357",
"gene_hgnc_id": null,
"hgvs_c": "n.354+14626T>C",
"hgvs_p": null,
"transcript": "ENST00000811346.1",
"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": 1288,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000811346.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000256357",
"gene_hgnc_id": null,
"hgvs_c": "n.335+14626T>C",
"hgvs_p": null,
"transcript": "ENST00000811347.1",
"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": 1243,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000811347.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000256357",
"gene_hgnc_id": null,
"hgvs_c": "n.847+14626T>C",
"hgvs_p": null,
"transcript": "ENST00000811348.1",
"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": 1755,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000811348.1"
}
],
"gene_symbol": "SERPINA11",
"gene_hgnc_id": 19193,
"dbsnp": "rs115771804",
"frequency_reference_population": 0.0007893726,
"hom_count_reference_population": 22,
"allele_count_reference_population": 1274,
"gnomad_exomes_af": 0.000462509,
"gnomad_genomes_af": 0.00392528,
"gnomad_exomes_ac": 676,
"gnomad_genomes_ac": 598,
"gnomad_exomes_homalt": 15,
"gnomad_genomes_homalt": 7,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007001250982284546,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.259,
"revel_prediction": "Benign",
"alphamissense_score": 0.0758,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.596,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001080451.2",
"gene_symbol": "SERPINA11",
"hgnc_id": 19193,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.881A>G",
"hgvs_p": "p.Gln294Arg"
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000536735.1",
"gene_symbol": "ENSG00000256357",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.171+14626T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}