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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: 17-42796196-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=42796196&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 42796196,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000246914.10",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "c.3505A>G",
"hgvs_p": "p.Lys1169Glu",
"transcript": "NM_032387.5",
"protein_id": "NP_115763.2",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 1243,
"cds_start": 3505,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 3594,
"cdna_end": null,
"cdna_length": 4199,
"mane_select": "ENST00000246914.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "c.3505A>G",
"hgvs_p": "p.Lys1169Glu",
"transcript": "ENST00000246914.10",
"protein_id": "ENSP00000246914.4",
"transcript_support_level": 1,
"aa_start": 1169,
"aa_end": null,
"aa_length": 1243,
"cds_start": 3505,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 3594,
"cdna_end": null,
"cdna_length": 4199,
"mane_select": "NM_032387.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "n.*2006A>G",
"hgvs_p": null,
"transcript": "ENST00000591448.5",
"protein_id": "ENSP00000467088.1",
"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": 3909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "n.*2006A>G",
"hgvs_p": null,
"transcript": "ENST00000591448.5",
"protein_id": "ENSP00000467088.1",
"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": 3909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "c.2497A>G",
"hgvs_p": "p.Lys833Glu",
"transcript": "NM_001321299.2",
"protein_id": "NP_001308228.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 907,
"cds_start": 2497,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 3505,
"cdna_end": null,
"cdna_length": 4110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "c.3505A>G",
"hgvs_p": "p.Lys1169Glu",
"transcript": "XM_017024962.2",
"protein_id": "XP_016880451.1",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 1302,
"cds_start": 3505,
"cds_end": null,
"cds_length": 3909,
"cdna_start": 3594,
"cdna_end": null,
"cdna_length": 4306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "c.3502A>G",
"hgvs_p": "p.Lys1168Glu",
"transcript": "XM_047436554.1",
"protein_id": "XP_047292510.1",
"transcript_support_level": null,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1301,
"cds_start": 3502,
"cds_end": null,
"cds_length": 3906,
"cdna_start": 3591,
"cdna_end": null,
"cdna_length": 4303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "c.3367A>G",
"hgvs_p": "p.Lys1123Glu",
"transcript": "XM_047436556.1",
"protein_id": "XP_047292512.1",
"transcript_support_level": null,
"aa_start": 1123,
"aa_end": null,
"aa_length": 1256,
"cds_start": 3367,
"cds_end": null,
"cds_length": 3771,
"cdna_start": 3456,
"cdna_end": null,
"cdna_length": 4168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "c.3364A>G",
"hgvs_p": "p.Lys1122Glu",
"transcript": "XM_047436557.1",
"protein_id": "XP_047292513.1",
"transcript_support_level": null,
"aa_start": 1122,
"aa_end": null,
"aa_length": 1255,
"cds_start": 3364,
"cds_end": null,
"cds_length": 3768,
"cdna_start": 3453,
"cdna_end": null,
"cdna_length": 4165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "c.3502A>G",
"hgvs_p": "p.Lys1168Glu",
"transcript": "XM_047436558.1",
"protein_id": "XP_047292514.1",
"transcript_support_level": null,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1242,
"cds_start": 3502,
"cds_end": null,
"cds_length": 3729,
"cdna_start": 3591,
"cdna_end": null,
"cdna_length": 4196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "c.3505A>G",
"hgvs_p": "p.Lys1169Glu",
"transcript": "XM_047436559.1",
"protein_id": "XP_047292515.1",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 1229,
"cds_start": 3505,
"cds_end": null,
"cds_length": 3690,
"cdna_start": 3594,
"cdna_end": null,
"cdna_length": 4157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "c.3502A>G",
"hgvs_p": "p.Lys1168Glu",
"transcript": "XM_047436560.1",
"protein_id": "XP_047292516.1",
"transcript_support_level": null,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1228,
"cds_start": 3502,
"cds_end": null,
"cds_length": 3687,
"cdna_start": 3591,
"cdna_end": null,
"cdna_length": 4154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "c.3367A>G",
"hgvs_p": "p.Lys1123Glu",
"transcript": "XM_047436561.1",
"protein_id": "XP_047292517.1",
"transcript_support_level": null,
"aa_start": 1123,
"aa_end": null,
"aa_length": 1197,
"cds_start": 3367,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 3456,
"cdna_end": null,
"cdna_length": 4061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "c.3364A>G",
"hgvs_p": "p.Lys1122Glu",
"transcript": "XM_047436562.1",
"protein_id": "XP_047292518.1",
"transcript_support_level": null,
"aa_start": 1122,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3364,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 3453,
"cdna_end": null,
"cdna_length": 4058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "c.3367A>G",
"hgvs_p": "p.Lys1123Glu",
"transcript": "XM_047436563.1",
"protein_id": "XP_047292519.1",
"transcript_support_level": null,
"aa_start": 1123,
"aa_end": null,
"aa_length": 1183,
"cds_start": 3367,
"cds_end": null,
"cds_length": 3552,
"cdna_start": 3456,
"cdna_end": null,
"cdna_length": 4019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "c.2497A>G",
"hgvs_p": "p.Lys833Glu",
"transcript": "XM_017024966.2",
"protein_id": "XP_016880455.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 966,
"cds_start": 2497,
"cds_end": null,
"cds_length": 2901,
"cdna_start": 2625,
"cdna_end": null,
"cdna_length": 3337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COA3",
"gene_hgnc_id": 24990,
"hgvs_c": "n.*143-43T>C",
"hgvs_p": null,
"transcript": "ENST00000586680.1",
"protein_id": "ENSP00000467546.1",
"transcript_support_level": 2,
"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": 1374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"dbsnp": "rs193922737",
"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": 0.5978431701660156,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.645,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8844,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.18,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.889,
"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": 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": "ENST00000246914.10",
"gene_symbol": "WNK4",
"hgnc_id": 14544,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3505A>G",
"hgvs_p": "p.Lys1169Glu"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000586680.1",
"gene_symbol": "COA3",
"hgnc_id": 24990,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "n.*143-43T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Pseudohypoaldosteronism type 2B",
"clinvar_classification": "not provided",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Pseudohypoaldosteronism type 2B",
"pathogenicity_classification_combined": "not provided",
"custom_annotations": null
}
],
"message": null
}