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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: X-54202019-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=54202019&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 54202019,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000354646.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.5045A>C",
"hgvs_p": "p.Glu1682Ala",
"transcript": "ENST00000354646.7",
"protein_id": "ENSP00000346667.2",
"transcript_support_level": 1,
"aa_start": 1682,
"aa_end": null,
"aa_length": 1800,
"cds_start": 5045,
"cds_end": null,
"cds_length": 5403,
"cdna_start": 5525,
"cdna_end": null,
"cdna_length": 11384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.5045A>C",
"hgvs_p": "p.Glu1682Ala",
"transcript": "NM_020922.5",
"protein_id": "NP_065973.2",
"transcript_support_level": null,
"aa_start": 1682,
"aa_end": null,
"aa_length": 1800,
"cds_start": 5045,
"cds_end": null,
"cds_length": 5403,
"cdna_start": 5525,
"cdna_end": null,
"cdna_length": 11384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.4874A>C",
"hgvs_p": "p.Glu1625Ala",
"transcript": "NM_001002838.4",
"protein_id": "NP_001002838.1",
"transcript_support_level": null,
"aa_start": 1625,
"aa_end": null,
"aa_length": 1743,
"cds_start": 4874,
"cds_end": null,
"cds_length": 5232,
"cdna_start": 5354,
"cdna_end": null,
"cdna_length": 11213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.4874A>C",
"hgvs_p": "p.Glu1625Ala",
"transcript": "NM_001395166.1",
"protein_id": "NP_001382095.1",
"transcript_support_level": null,
"aa_start": 1625,
"aa_end": null,
"aa_length": 1743,
"cds_start": 4874,
"cds_end": null,
"cds_length": 5232,
"cdna_start": 5241,
"cdna_end": null,
"cdna_length": 11100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.4874A>C",
"hgvs_p": "p.Glu1625Ala",
"transcript": "ENST00000375169.7",
"protein_id": "ENSP00000364312.3",
"transcript_support_level": 5,
"aa_start": 1625,
"aa_end": null,
"aa_length": 1743,
"cds_start": 4874,
"cds_end": null,
"cds_length": 5232,
"cdna_start": 5313,
"cdna_end": null,
"cdna_length": 11172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.5045A>C",
"hgvs_p": "p.Glu1682Ala",
"transcript": "XM_017029741.2",
"protein_id": "XP_016885230.1",
"transcript_support_level": null,
"aa_start": 1682,
"aa_end": null,
"aa_length": 1800,
"cds_start": 5045,
"cds_end": null,
"cds_length": 5403,
"cdna_start": 5412,
"cdna_end": null,
"cdna_length": 11271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.5045A>C",
"hgvs_p": "p.Glu1682Ala",
"transcript": "XM_017029742.2",
"protein_id": "XP_016885231.1",
"transcript_support_level": null,
"aa_start": 1682,
"aa_end": null,
"aa_length": 1800,
"cds_start": 5045,
"cds_end": null,
"cds_length": 5403,
"cdna_start": 5489,
"cdna_end": null,
"cdna_length": 11348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.5045A>C",
"hgvs_p": "p.Glu1682Ala",
"transcript": "XM_017029743.2",
"protein_id": "XP_016885232.1",
"transcript_support_level": null,
"aa_start": 1682,
"aa_end": null,
"aa_length": 1800,
"cds_start": 5045,
"cds_end": null,
"cds_length": 5403,
"cdna_start": 5404,
"cdna_end": null,
"cdna_length": 11263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.5045A>C",
"hgvs_p": "p.Glu1682Ala",
"transcript": "XM_017029744.2",
"protein_id": "XP_016885233.1",
"transcript_support_level": null,
"aa_start": 1682,
"aa_end": null,
"aa_length": 1800,
"cds_start": 5045,
"cds_end": null,
"cds_length": 5403,
"cdna_start": 5382,
"cdna_end": null,
"cdna_length": 11241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.5015A>C",
"hgvs_p": "p.Glu1672Ala",
"transcript": "XM_017029745.2",
"protein_id": "XP_016885234.1",
"transcript_support_level": null,
"aa_start": 1672,
"aa_end": null,
"aa_length": 1790,
"cds_start": 5015,
"cds_end": null,
"cds_length": 5373,
"cdna_start": 5382,
"cdna_end": null,
"cdna_length": 11241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.4904A>C",
"hgvs_p": "p.Glu1635Ala",
"transcript": "XM_011530802.3",
"protein_id": "XP_011529104.1",
"transcript_support_level": null,
"aa_start": 1635,
"aa_end": null,
"aa_length": 1753,
"cds_start": 4904,
"cds_end": null,
"cds_length": 5262,
"cdna_start": 5271,
"cdna_end": null,
"cdna_length": 11130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.4904A>C",
"hgvs_p": "p.Glu1635Ala",
"transcript": "XM_047442376.1",
"protein_id": "XP_047298332.1",
"transcript_support_level": null,
"aa_start": 1635,
"aa_end": null,
"aa_length": 1753,
"cds_start": 4904,
"cds_end": null,
"cds_length": 5262,
"cdna_start": 5348,
"cdna_end": null,
"cdna_length": 11207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.4904A>C",
"hgvs_p": "p.Glu1635Ala",
"transcript": "XM_047442377.1",
"protein_id": "XP_047298333.1",
"transcript_support_level": null,
"aa_start": 1635,
"aa_end": null,
"aa_length": 1753,
"cds_start": 4904,
"cds_end": null,
"cds_length": 5262,
"cdna_start": 5384,
"cdna_end": null,
"cdna_length": 11243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.4904A>C",
"hgvs_p": "p.Glu1635Ala",
"transcript": "XM_047442378.1",
"protein_id": "XP_047298334.1",
"transcript_support_level": null,
"aa_start": 1635,
"aa_end": null,
"aa_length": 1753,
"cds_start": 4904,
"cds_end": null,
"cds_length": 5262,
"cdna_start": 5263,
"cdna_end": null,
"cdna_length": 11122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.4904A>C",
"hgvs_p": "p.Glu1635Ala",
"transcript": "XM_047442379.1",
"protein_id": "XP_047298335.1",
"transcript_support_level": null,
"aa_start": 1635,
"aa_end": null,
"aa_length": 1753,
"cds_start": 4904,
"cds_end": null,
"cds_length": 5262,
"cdna_start": 5241,
"cdna_end": null,
"cdna_length": 11100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.4874A>C",
"hgvs_p": "p.Glu1625Ala",
"transcript": "XM_047442380.1",
"protein_id": "XP_047298336.1",
"transcript_support_level": null,
"aa_start": 1625,
"aa_end": null,
"aa_length": 1743,
"cds_start": 4874,
"cds_end": null,
"cds_length": 5232,
"cdna_start": 5318,
"cdna_end": null,
"cdna_length": 11177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.4874A>C",
"hgvs_p": "p.Glu1625Ala",
"transcript": "XM_047442381.1",
"protein_id": "XP_047298337.1",
"transcript_support_level": null,
"aa_start": 1625,
"aa_end": null,
"aa_length": 1743,
"cds_start": 4874,
"cds_end": null,
"cds_length": 5232,
"cdna_start": 5233,
"cdna_end": null,
"cdna_length": 11092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.4874A>C",
"hgvs_p": "p.Glu1625Ala",
"transcript": "XM_047442382.1",
"protein_id": "XP_047298338.1",
"transcript_support_level": null,
"aa_start": 1625,
"aa_end": null,
"aa_length": 1743,
"cds_start": 4874,
"cds_end": null,
"cds_length": 5232,
"cdna_start": 5351,
"cdna_end": null,
"cdna_length": 11210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.4874A>C",
"hgvs_p": "p.Glu1625Ala",
"transcript": "XM_047442383.1",
"protein_id": "XP_047298339.1",
"transcript_support_level": null,
"aa_start": 1625,
"aa_end": null,
"aa_length": 1743,
"cds_start": 4874,
"cds_end": null,
"cds_length": 5232,
"cdna_start": 5091,
"cdna_end": null,
"cdna_length": 10950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"dbsnp": "rs782342462",
"frequency_reference_population": 0.000011840658,
"hom_count_reference_population": 4,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.0000118407,
"gnomad_genomes_af": 0,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 0,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23222947120666504,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.17,
"revel_prediction": "Benign",
"alphamissense_score": 0.2176,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.175,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000354646.7",
"gene_symbol": "WNK3",
"hgnc_id": 14543,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.5045A>C",
"hgvs_p": "p.Glu1682Ala"
}
],
"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
}