← Back to variant description
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: 1-17075687-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=17075687&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 17075687,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_007365.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PADI2",
"gene_hgnc_id": 18341,
"hgvs_c": "c.1447G>T",
"hgvs_p": "p.Gly483Cys",
"transcript": "NM_007365.3",
"protein_id": "NP_031391.2",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 665,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000375486.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007365.3"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PADI2",
"gene_hgnc_id": 18341,
"hgvs_c": "c.1447G>T",
"hgvs_p": "p.Gly483Cys",
"transcript": "ENST00000375486.9",
"protein_id": "ENSP00000364635.4",
"transcript_support_level": 1,
"aa_start": 483,
"aa_end": null,
"aa_length": 665,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007365.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375486.9"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PADI2",
"gene_hgnc_id": 18341,
"hgvs_c": "c.1513G>T",
"hgvs_p": "p.Gly505Cys",
"transcript": "ENST00000908716.1",
"protein_id": "ENSP00000578775.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 687,
"cds_start": 1513,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908716.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PADI2",
"gene_hgnc_id": 18341,
"hgvs_c": "c.1495G>T",
"hgvs_p": "p.Gly499Cys",
"transcript": "ENST00000945841.1",
"protein_id": "ENSP00000615900.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 681,
"cds_start": 1495,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945841.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PADI2",
"gene_hgnc_id": 18341,
"hgvs_c": "c.1336G>T",
"hgvs_p": "p.Gly446Cys",
"transcript": "ENST00000908719.1",
"protein_id": "ENSP00000578778.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 628,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908719.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PADI2",
"gene_hgnc_id": 18341,
"hgvs_c": "c.1321G>T",
"hgvs_p": "p.Gly441Cys",
"transcript": "ENST00000908715.1",
"protein_id": "ENSP00000578774.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 623,
"cds_start": 1321,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908715.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PADI2",
"gene_hgnc_id": 18341,
"hgvs_c": "c.1141G>T",
"hgvs_p": "p.Gly381Cys",
"transcript": "ENST00000922909.1",
"protein_id": "ENSP00000592968.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 563,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922909.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PADI2",
"gene_hgnc_id": 18341,
"hgvs_c": "c.1099G>T",
"hgvs_p": "p.Gly367Cys",
"transcript": "ENST00000908717.1",
"protein_id": "ENSP00000578776.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 549,
"cds_start": 1099,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908717.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PADI2",
"gene_hgnc_id": 18341,
"hgvs_c": "c.946G>T",
"hgvs_p": "p.Gly316Cys",
"transcript": "ENST00000908718.1",
"protein_id": "ENSP00000578777.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 498,
"cds_start": 946,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908718.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PADI2",
"gene_hgnc_id": 18341,
"hgvs_c": "c.502G>T",
"hgvs_p": "p.Gly168Cys",
"transcript": "XM_017000148.3",
"protein_id": "XP_016855637.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 350,
"cds_start": 502,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000148.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PADI2",
"gene_hgnc_id": 18341,
"hgvs_c": "n.1074G>T",
"hgvs_p": null,
"transcript": "ENST00000466151.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "pseudogene",
"feature": "ENST00000466151.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PADI2",
"gene_hgnc_id": 18341,
"hgvs_c": "c.*101G>T",
"hgvs_p": null,
"transcript": "XM_047442975.1",
"protein_id": "XP_047298931.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 397,
"cds_start": null,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442975.1"
}
],
"gene_symbol": "PADI2",
"gene_hgnc_id": 18341,
"dbsnp": "rs371989695",
"frequency_reference_population": 6.854451e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85445e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4217253625392914,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.074,
"revel_prediction": "Benign",
"alphamissense_score": 0.2038,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.726,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_007365.3",
"gene_symbol": "PADI2",
"hgnc_id": 18341,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1447G>T",
"hgvs_p": "p.Gly483Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}