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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: 19-51016108-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=51016108&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 51016108,
"ref": "T",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000358789.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK10",
"gene_hgnc_id": 6358,
"hgvs_c": "c.318A>C",
"hgvs_p": "p.Gly106Gly",
"transcript": "NM_145888.3",
"protein_id": "NP_665895.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 276,
"cds_start": 318,
"cds_end": null,
"cds_length": 831,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 2984,
"mane_select": "ENST00000358789.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK10",
"gene_hgnc_id": 6358,
"hgvs_c": "c.318A>C",
"hgvs_p": "p.Gly106Gly",
"transcript": "ENST00000358789.8",
"protein_id": "ENSP00000351640.2",
"transcript_support_level": 1,
"aa_start": 106,
"aa_end": null,
"aa_length": 276,
"cds_start": 318,
"cds_end": null,
"cds_length": 831,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 2984,
"mane_select": "NM_145888.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK10",
"gene_hgnc_id": 6358,
"hgvs_c": "c.318A>C",
"hgvs_p": "p.Gly106Gly",
"transcript": "ENST00000309958.7",
"protein_id": "ENSP00000311746.2",
"transcript_support_level": 1,
"aa_start": 106,
"aa_end": null,
"aa_length": 276,
"cds_start": 318,
"cds_end": null,
"cds_length": 831,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 3111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK10",
"gene_hgnc_id": 6358,
"hgvs_c": "n.26A>C",
"hgvs_p": null,
"transcript": "ENST00000601467.1",
"protein_id": "ENSP00000472773.1",
"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": 1428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK10",
"gene_hgnc_id": 6358,
"hgvs_c": "c.318A>C",
"hgvs_p": "p.Gly106Gly",
"transcript": "NM_001077500.2",
"protein_id": "NP_001070968.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 276,
"cds_start": 318,
"cds_end": null,
"cds_length": 831,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 2934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK10",
"gene_hgnc_id": 6358,
"hgvs_c": "c.318A>C",
"hgvs_p": "p.Gly106Gly",
"transcript": "NM_002776.5",
"protein_id": "NP_002767.2",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 276,
"cds_start": 318,
"cds_end": null,
"cds_length": 831,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 2946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK10",
"gene_hgnc_id": 6358,
"hgvs_c": "c.318A>C",
"hgvs_p": "p.Gly106Gly",
"transcript": "ENST00000391805.5",
"protein_id": "ENSP00000375681.1",
"transcript_support_level": 5,
"aa_start": 106,
"aa_end": null,
"aa_length": 276,
"cds_start": 318,
"cds_end": null,
"cds_length": 831,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 3006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK10",
"gene_hgnc_id": 6358,
"hgvs_c": "c.318A>C",
"hgvs_p": "p.Gly106Gly",
"transcript": "ENST00000599077.1",
"protein_id": "ENSP00000471610.1",
"transcript_support_level": 3,
"aa_start": 106,
"aa_end": null,
"aa_length": 142,
"cds_start": 318,
"cds_end": null,
"cds_length": 429,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK10",
"gene_hgnc_id": 6358,
"hgvs_c": "c.318A>C",
"hgvs_p": "p.Gly106Gly",
"transcript": "XM_005259061.4",
"protein_id": "XP_005259118.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 276,
"cds_start": 318,
"cds_end": null,
"cds_length": 831,
"cdna_start": 413,
"cdna_end": null,
"cdna_length": 2987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK10",
"gene_hgnc_id": 6358,
"hgvs_c": "c.318A>C",
"hgvs_p": "p.Gly106Gly",
"transcript": "XM_005259062.4",
"protein_id": "XP_005259119.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 276,
"cds_start": 318,
"cds_end": null,
"cds_length": 831,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 2952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK10",
"gene_hgnc_id": 6358,
"hgvs_c": "c.318A>C",
"hgvs_p": "p.Gly106Gly",
"transcript": "XM_006723287.5",
"protein_id": "XP_006723350.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 276,
"cds_start": 318,
"cds_end": null,
"cds_length": 831,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 2949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK10",
"gene_hgnc_id": 6358,
"hgvs_c": "c.318A>C",
"hgvs_p": "p.Gly106Gly",
"transcript": "XM_006723289.4",
"protein_id": "XP_006723352.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 276,
"cds_start": 318,
"cds_end": null,
"cds_length": 831,
"cdna_start": 369,
"cdna_end": null,
"cdna_length": 2943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK10",
"gene_hgnc_id": 6358,
"hgvs_c": "c.318A>C",
"hgvs_p": "p.Gly106Gly",
"transcript": "XM_017026993.3",
"protein_id": "XP_016882482.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 276,
"cds_start": 318,
"cds_end": null,
"cds_length": 831,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 3020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK10",
"gene_hgnc_id": 6358,
"hgvs_c": "c.318A>C",
"hgvs_p": "p.Gly106Gly",
"transcript": "XM_047439102.1",
"protein_id": "XP_047295058.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 276,
"cds_start": 318,
"cds_end": null,
"cds_length": 831,
"cdna_start": 357,
"cdna_end": null,
"cdna_length": 2931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK10",
"gene_hgnc_id": 6358,
"hgvs_c": "n.262A>C",
"hgvs_p": null,
"transcript": "ENST00000599987.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KLK10",
"gene_hgnc_id": 6358,
"dbsnp": "rs2075688",
"frequency_reference_population": 0.63446003,
"hom_count_reference_population": 323089,
"allele_count_reference_population": 1002490,
"gnomad_exomes_af": 0.626877,
"gnomad_genomes_af": 0.705611,
"gnomad_exomes_ac": 895113,
"gnomad_genomes_ac": 107377,
"gnomad_exomes_homalt": 283664,
"gnomad_genomes_homalt": 39425,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.3257,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.931,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.09,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000358789.8",
"gene_symbol": "KLK10",
"hgnc_id": 6358,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.318A>C",
"hgvs_p": "p.Gly106Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}