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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: 6-36521757-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=36521757&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 36521757,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_007271.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK38",
"gene_hgnc_id": 17847,
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Ala123Thr",
"transcript": "NM_007271.4",
"protein_id": "NP_009202.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 465,
"cds_start": 367,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000229812.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007271.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK38",
"gene_hgnc_id": 17847,
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Ala123Thr",
"transcript": "ENST00000229812.8",
"protein_id": "ENSP00000229812.7",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 465,
"cds_start": 367,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007271.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000229812.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK38",
"gene_hgnc_id": 17847,
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Ala123Thr",
"transcript": "ENST00000869137.1",
"protein_id": "ENSP00000539196.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 505,
"cds_start": 367,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869137.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK38",
"gene_hgnc_id": 17847,
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Ala123Thr",
"transcript": "NM_001305102.2",
"protein_id": "NP_001292031.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 465,
"cds_start": 367,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001305102.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK38",
"gene_hgnc_id": 17847,
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Ala123Thr",
"transcript": "ENST00000850860.1",
"protein_id": "ENSP00000520947.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 465,
"cds_start": 367,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000850860.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK38",
"gene_hgnc_id": 17847,
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Ala123Thr",
"transcript": "ENST00000869135.1",
"protein_id": "ENSP00000539194.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 465,
"cds_start": 367,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869135.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK38",
"gene_hgnc_id": 17847,
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Ala123Thr",
"transcript": "ENST00000869136.1",
"protein_id": "ENSP00000539195.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 465,
"cds_start": 367,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869136.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK38",
"gene_hgnc_id": 17847,
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Ala123Thr",
"transcript": "ENST00000869139.1",
"protein_id": "ENSP00000539198.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 465,
"cds_start": 367,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869139.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK38",
"gene_hgnc_id": 17847,
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Ala123Thr",
"transcript": "ENST00000970356.1",
"protein_id": "ENSP00000640415.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 465,
"cds_start": 367,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970356.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK38",
"gene_hgnc_id": 17847,
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Ala123Thr",
"transcript": "ENST00000869138.1",
"protein_id": "ENSP00000539197.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 418,
"cds_start": 367,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869138.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK38",
"gene_hgnc_id": 17847,
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Ala123Thr",
"transcript": "XM_047418139.1",
"protein_id": "XP_047274095.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 465,
"cds_start": 367,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418139.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK38",
"gene_hgnc_id": 17847,
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Ala123Thr",
"transcript": "XM_047418140.1",
"protein_id": "XP_047274096.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 465,
"cds_start": 367,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418140.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK38",
"gene_hgnc_id": 17847,
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Ala123Thr",
"transcript": "XM_047418141.1",
"protein_id": "XP_047274097.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 465,
"cds_start": 367,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418141.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK38",
"gene_hgnc_id": 17847,
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Ala123Thr",
"transcript": "XM_017010226.2",
"protein_id": "XP_016865715.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 439,
"cds_start": 367,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010226.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK38",
"gene_hgnc_id": 17847,
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Ala123Thr",
"transcript": "XM_047418142.1",
"protein_id": "XP_047274098.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 439,
"cds_start": 367,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418142.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK38",
"gene_hgnc_id": 17847,
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Ala123Thr",
"transcript": "XM_047418143.1",
"protein_id": "XP_047274099.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 439,
"cds_start": 367,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418143.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK38",
"gene_hgnc_id": 17847,
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Ala123Thr",
"transcript": "XM_047418144.1",
"protein_id": "XP_047274100.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 294,
"cds_start": 367,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418144.1"
}
],
"gene_symbol": "STK38",
"gene_hgnc_id": 17847,
"dbsnp": "rs938011110",
"frequency_reference_population": 0.000024818699,
"hom_count_reference_population": 0,
"allele_count_reference_population": 40,
"gnomad_exomes_af": 0.0000232954,
"gnomad_genomes_af": 0.0000394296,
"gnomad_exomes_ac": 34,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2717241644859314,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.048,
"revel_prediction": "Benign",
"alphamissense_score": 0.1032,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.171,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_007271.4",
"gene_symbol": "STK38",
"hgnc_id": 17847,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Ala123Thr"
}
],
"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
}