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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: 19-51025863-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=51025863&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 51025863,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000453757.8",
"consequences": [
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KLK11",
"gene_hgnc_id": 6359,
"hgvs_c": "c.-35-197G>A",
"hgvs_p": null,
"transcript": "NM_001136032.3",
"protein_id": "NP_001129504.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 250,
"cds_start": -4,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1176,
"mane_select": "ENST00000453757.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KLK11",
"gene_hgnc_id": 6359,
"hgvs_c": "c.-35-197G>A",
"hgvs_p": null,
"transcript": "ENST00000453757.8",
"protein_id": "ENSP00000413958.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 250,
"cds_start": -4,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1176,
"mane_select": "NM_001136032.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KLK11",
"gene_hgnc_id": 6359,
"hgvs_c": "c.62-197G>A",
"hgvs_p": null,
"transcript": "ENST00000594768.5",
"protein_id": "ENSP00000473047.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 282,
"cds_start": -4,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KLK11",
"gene_hgnc_id": 6359,
"hgvs_c": "c.-35-197G>A",
"hgvs_p": null,
"transcript": "ENST00000319720.11",
"protein_id": "ENSP00000324269.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 250,
"cds_start": -4,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KLK11",
"gene_hgnc_id": 6359,
"hgvs_c": "n.62-197G>A",
"hgvs_p": null,
"transcript": "ENST00000319756.7",
"protein_id": "ENSP00000324414.3",
"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": 1268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KLK11",
"gene_hgnc_id": 6359,
"hgvs_c": "c.62-197G>A",
"hgvs_p": null,
"transcript": "NM_144947.3",
"protein_id": "NP_659196.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 282,
"cds_start": -4,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KLK11",
"gene_hgnc_id": 6359,
"hgvs_c": "c.-35-197G>A",
"hgvs_p": null,
"transcript": "NM_001167605.2",
"protein_id": "NP_001161077.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": -4,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KLK11",
"gene_hgnc_id": 6359,
"hgvs_c": "c.-35-197G>A",
"hgvs_p": null,
"transcript": "ENST00000391804.7",
"protein_id": "ENSP00000375680.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": -4,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KLK11",
"gene_hgnc_id": 6359,
"hgvs_c": "c.-35-197G>A",
"hgvs_p": null,
"transcript": "NM_006853.3",
"protein_id": "NP_006844.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 250,
"cds_start": -4,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KLK11",
"gene_hgnc_id": 6359,
"hgvs_c": "c.-35-197G>A",
"hgvs_p": null,
"transcript": "ENST00000600362.5",
"protein_id": "ENSP00000471636.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 109,
"cds_start": -4,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
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"cdna_length": 759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "KLK11",
"gene_hgnc_id": 6359,
"hgvs_c": "c.-67-165G>A",
"hgvs_p": null,
"transcript": "ENST00000601671.1",
"protein_id": "ENSP00000470783.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
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"gene_symbol": "KLK11",
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"hgvs_c": "n.670-197G>A",
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"transcript": "ENST00000594458.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "KLK11",
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"hgvs_c": "n.80-197G>A",
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"transcript": "ENST00000594827.5",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 1,
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"gene_symbol": "KLK11",
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"hgvs_c": "c.62-197G>A",
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"transcript": "XM_011526369.2",
"protein_id": "XP_011524671.1",
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},
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],
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"gene_symbol": "KLK11",
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"feature": null
},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KLK11",
"gene_hgnc_id": 6359,
"hgvs_c": "c.-36+158G>A",
"hgvs_p": null,
"transcript": "XM_011526371.3",
"protein_id": "XP_011524673.1",
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},
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],
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"gene_symbol": "KLK11",
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"hgvs_c": "c.-67-165G>A",
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"transcript": "XM_011526372.3",
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},
{
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"consequences": [
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],
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"intron_rank": 1,
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"gene_symbol": "KLK11",
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"hgvs_c": "c.-35-197G>A",
"hgvs_p": null,
"transcript": "XM_011526373.2",
"protein_id": "XP_011524675.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KLK11",
"gene_hgnc_id": 6359,
"hgvs_c": "c.-36+158G>A",
"hgvs_p": null,
"transcript": "XM_047438104.1",
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},
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],
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],
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},
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],
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"intron_rank": 1,
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"gene_symbol": "KLK11",
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"hgvs_c": "c.-67-165G>A",
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"transcript": "XM_047438107.1",
"protein_id": "XP_047294063.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KLK11",
"gene_hgnc_id": 6359,
"hgvs_c": "c.62-197G>A",
"hgvs_p": null,
"transcript": "XM_005258439.4",
"protein_id": "XP_005258496.1",
"transcript_support_level": null,
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},
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"strand": true,
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],
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"exon_count": 5,
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"gene_symbol": "KLK11",
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"hgvs_c": "c.-143G>A",
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"transcript": "ENST00000598799.5",
"protein_id": "ENSP00000470574.1",
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"aa_start": null,
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"aa_length": 169,
"cds_start": -4,
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"cdna_start": null,
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}
],
"gene_symbol": "KLK11",
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"dbsnp": "rs2250066",
"frequency_reference_population": 0.1497144,
"hom_count_reference_population": 5936,
"allele_count_reference_population": 65212,
"gnomad_exomes_af": 0.132055,
"gnomad_genomes_af": 0.182625,
"gnomad_exomes_ac": 37434,
"gnomad_genomes_ac": 27778,
"gnomad_exomes_homalt": 2760,
"gnomad_genomes_homalt": 3176,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.673,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000453757.8",
"gene_symbol": "KLK11",
"hgnc_id": 6359,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-35-197G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}