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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: 2-168063550-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=168063550&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 168063550,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_013233.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK39",
"gene_hgnc_id": 17717,
"hgvs_c": "c.1326A>C",
"hgvs_p": "p.Glu442Asp",
"transcript": "NM_013233.3",
"protein_id": "NP_037365.2",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 545,
"cds_start": 1326,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355999.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013233.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK39",
"gene_hgnc_id": 17717,
"hgvs_c": "c.1326A>C",
"hgvs_p": "p.Glu442Asp",
"transcript": "ENST00000355999.5",
"protein_id": "ENSP00000348278.4",
"transcript_support_level": 1,
"aa_start": 442,
"aa_end": null,
"aa_length": 545,
"cds_start": 1326,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013233.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355999.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK39",
"gene_hgnc_id": 17717,
"hgvs_c": "n.426A>C",
"hgvs_p": null,
"transcript": "ENST00000487143.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000487143.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK39",
"gene_hgnc_id": 17717,
"hgvs_c": "c.1326A>C",
"hgvs_p": "p.Glu442Asp",
"transcript": "ENST00000952313.1",
"protein_id": "ENSP00000622372.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 545,
"cds_start": 1326,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952313.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "STK39",
"gene_hgnc_id": 17717,
"hgvs_c": "c.1263A>C",
"hgvs_p": "p.Glu421Asp",
"transcript": "NM_001410961.1",
"protein_id": "NP_001397890.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 524,
"cds_start": 1263,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410961.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "STK39",
"gene_hgnc_id": 17717,
"hgvs_c": "c.1263A>C",
"hgvs_p": "p.Glu421Asp",
"transcript": "ENST00000697205.1",
"protein_id": "ENSP00000513185.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 524,
"cds_start": 1263,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697205.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "STK39",
"gene_hgnc_id": 17717,
"hgvs_c": "c.1263A>C",
"hgvs_p": "p.Glu421Asp",
"transcript": "ENST00000952314.1",
"protein_id": "ENSP00000622373.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 521,
"cds_start": 1263,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952314.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "STK39",
"gene_hgnc_id": 17717,
"hgvs_c": "c.1233A>C",
"hgvs_p": "p.Glu411Asp",
"transcript": "ENST00000940691.1",
"protein_id": "ENSP00000610750.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 514,
"cds_start": 1233,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940691.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "STK39",
"gene_hgnc_id": 17717,
"hgvs_c": "c.1224A>C",
"hgvs_p": "p.Glu408Asp",
"transcript": "ENST00000940693.1",
"protein_id": "ENSP00000610752.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 511,
"cds_start": 1224,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940693.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "STK39",
"gene_hgnc_id": 17717,
"hgvs_c": "c.1173A>C",
"hgvs_p": "p.Glu391Asp",
"transcript": "ENST00000940694.1",
"protein_id": "ENSP00000610753.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 494,
"cds_start": 1173,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940694.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "STK39",
"gene_hgnc_id": 17717,
"hgvs_c": "c.1161A>C",
"hgvs_p": "p.Glu387Asp",
"transcript": "ENST00000940692.1",
"protein_id": "ENSP00000610751.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 490,
"cds_start": 1161,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940692.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK39",
"gene_hgnc_id": 17717,
"hgvs_c": "c.1326A>C",
"hgvs_p": "p.Glu442Asp",
"transcript": "XM_017003813.3",
"protein_id": "XP_016859302.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 535,
"cds_start": 1326,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003813.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "STK39",
"gene_hgnc_id": 17717,
"hgvs_c": "c.1263A>C",
"hgvs_p": "p.Glu421Asp",
"transcript": "XM_047443941.1",
"protein_id": "XP_047299897.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 514,
"cds_start": 1263,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443941.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK39",
"gene_hgnc_id": 17717,
"hgvs_c": "c.1326A>C",
"hgvs_p": "p.Glu442Asp",
"transcript": "XM_017003814.3",
"protein_id": "XP_016859303.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 461,
"cds_start": 1326,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003814.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK39",
"gene_hgnc_id": 17717,
"hgvs_c": "c.1020A>C",
"hgvs_p": "p.Glu340Asp",
"transcript": "XM_047443944.1",
"protein_id": "XP_047299900.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 443,
"cds_start": 1020,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443944.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "STK39",
"gene_hgnc_id": 17717,
"hgvs_c": "c.834A>C",
"hgvs_p": "p.Glu278Asp",
"transcript": "XM_017003817.3",
"protein_id": "XP_016859306.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 381,
"cds_start": 834,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003817.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "STK39",
"gene_hgnc_id": 17717,
"hgvs_c": "c.975-46455A>C",
"hgvs_p": null,
"transcript": "ENST00000952315.1",
"protein_id": "ENSP00000622374.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 411,
"cds_start": null,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952315.1"
}
],
"gene_symbol": "STK39",
"gene_hgnc_id": 17717,
"dbsnp": "rs553932507",
"frequency_reference_population": 0.000015498916,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.0000164296,
"gnomad_genomes_af": 0.00000656883,
"gnomad_exomes_ac": 24,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0625133216381073,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.081,
"revel_prediction": "Benign",
"alphamissense_score": 0.0676,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.418,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_013233.3",
"gene_symbol": "STK39",
"hgnc_id": 17717,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1326A>C",
"hgvs_p": "p.Glu442Asp"
}
],
"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
}