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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: 2-218679665-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=218679665&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 218679665,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000295709.8",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.884A>G",
"hgvs_p": "p.Lys295Arg",
"transcript": "NM_015690.5",
"protein_id": "NP_056505.2",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 1315,
"cds_start": 884,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 4873,
"mane_select": "ENST00000295709.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.884A>G",
"hgvs_p": "p.Lys295Arg",
"transcript": "ENST00000295709.8",
"protein_id": "ENSP00000295709.3",
"transcript_support_level": 1,
"aa_start": 295,
"aa_end": null,
"aa_length": 1315,
"cds_start": 884,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 4873,
"mane_select": "NM_015690.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.884A>G",
"hgvs_p": "p.Lys295Arg",
"transcript": "ENST00000392105.7",
"protein_id": "ENSP00000375954.3",
"transcript_support_level": 1,
"aa_start": 295,
"aa_end": null,
"aa_length": 1294,
"cds_start": 884,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 4821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.884A>G",
"hgvs_p": "p.Lys295Arg",
"transcript": "NM_001369423.1",
"protein_id": "NP_001356352.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 1315,
"cds_start": 884,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 4793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.884A>G",
"hgvs_p": "p.Lys295Arg",
"transcript": "ENST00000440309.5",
"protein_id": "ENSP00000394095.1",
"transcript_support_level": 5,
"aa_start": 295,
"aa_end": null,
"aa_length": 1315,
"cds_start": 884,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 1043,
"cdna_end": null,
"cdna_length": 4721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.884A>G",
"hgvs_p": "p.Lys295Arg",
"transcript": "NM_001243313.2",
"protein_id": "NP_001230242.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 1294,
"cds_start": 884,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 4810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.884A>G",
"hgvs_p": "p.Lys295Arg",
"transcript": "XM_011510959.3",
"protein_id": "XP_011509261.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 1306,
"cds_start": 884,
"cds_end": null,
"cds_length": 3921,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 4848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.884A>G",
"hgvs_p": "p.Lys295Arg",
"transcript": "XM_047443931.1",
"protein_id": "XP_047299887.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 1306,
"cds_start": 884,
"cds_end": null,
"cds_length": 3921,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 4766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.884A>G",
"hgvs_p": "p.Lys295Arg",
"transcript": "XM_017003804.3",
"protein_id": "XP_016859293.2",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 851,
"cds_start": 884,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 3056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.884A>G",
"hgvs_p": "p.Lys295Arg",
"transcript": "XM_047443932.1",
"protein_id": "XP_047299888.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 851,
"cds_start": 884,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 3138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.*48A>G",
"hgvs_p": null,
"transcript": "ENST00000424080.1",
"protein_id": "ENSP00000403527.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 277,
"cds_start": -4,
"cds_end": null,
"cds_length": 836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"dbsnp": "rs1863703",
"frequency_reference_population": 0.07097425,
"hom_count_reference_population": 7694,
"allele_count_reference_population": 114554,
"gnomad_exomes_af": 0.0636233,
"gnomad_genomes_af": 0.14161,
"gnomad_exomes_ac": 93010,
"gnomad_genomes_ac": 21544,
"gnomad_exomes_homalt": 4843,
"gnomad_genomes_homalt": 2851,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0037926435470581055,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.035,
"revel_prediction": "Benign",
"alphamissense_score": 0.0717,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.88,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000295709.8",
"gene_symbol": "STK36",
"hgnc_id": 17209,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.884A>G",
"hgvs_p": "p.Lys295Arg"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}