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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: 16-27600340-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=27600340&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 27600340,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000261588.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.64-18085T>C",
"hgvs_p": null,
"transcript": "NM_015202.5",
"protein_id": "NP_056017.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1618,
"cds_start": -4,
"cds_end": null,
"cds_length": 4857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6599,
"mane_select": "ENST00000261588.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.64-18085T>C",
"hgvs_p": null,
"transcript": "ENST00000261588.10",
"protein_id": "ENSP00000261588.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1618,
"cds_start": -4,
"cds_end": null,
"cds_length": 4857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6599,
"mane_select": "NM_015202.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.49-18085T>C",
"hgvs_p": null,
"transcript": "ENST00000568258.5",
"protein_id": "ENSP00000454884.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": -4,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "n.33+26384T>C",
"hgvs_p": null,
"transcript": "ENST00000565672.5",
"protein_id": "ENSP00000455380.1",
"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": 767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.64-18085T>C",
"hgvs_p": null,
"transcript": "XM_005255201.4",
"protein_id": "XP_005255258.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1679,
"cds_start": -4,
"cds_end": null,
"cds_length": 5040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.64-18085T>C",
"hgvs_p": null,
"transcript": "XM_005255202.4",
"protein_id": "XP_005255259.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1661,
"cds_start": -4,
"cds_end": null,
"cds_length": 4986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.-15-18085T>C",
"hgvs_p": null,
"transcript": "XM_011545773.3",
"protein_id": "XP_011544075.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1653,
"cds_start": -4,
"cds_end": null,
"cds_length": 4962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.-15-18085T>C",
"hgvs_p": null,
"transcript": "XM_011545774.3",
"protein_id": "XP_011544076.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1653,
"cds_start": -4,
"cds_end": null,
"cds_length": 4962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.64-18085T>C",
"hgvs_p": null,
"transcript": "XM_011545775.3",
"protein_id": "XP_011544077.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1639,
"cds_start": -4,
"cds_end": null,
"cds_length": 4920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.64-18085T>C",
"hgvs_p": null,
"transcript": "XM_005255203.4",
"protein_id": "XP_005255260.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1636,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 6653,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.64-18085T>C",
"hgvs_p": null,
"transcript": "XM_011545776.3",
"protein_id": "XP_011544078.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1635,
"cds_start": -4,
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"cds_length": 4908,
"cdna_start": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 28,
"intron_rank": 2,
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"gene_symbol": "KATNIP",
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"hgvs_c": "c.64-18085T>C",
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"transcript": "XM_024450216.2",
"protein_id": "XP_024305984.1",
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 2,
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"gene_symbol": "KATNIP",
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"hgvs_c": "c.64-18085T>C",
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"transcript": "XM_017023085.2",
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},
{
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],
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"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.64-18085T>C",
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"transcript": "XM_047433842.1",
"protein_id": "XP_047289798.1",
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},
{
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"strand": true,
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"intron_variant"
],
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"intron_rank": 2,
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"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.64-18085T>C",
"hgvs_p": null,
"transcript": "XM_006721025.4",
"protein_id": "XP_006721088.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "KATNIP",
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"hgvs_c": "c.64-18085T>C",
"hgvs_p": null,
"transcript": "XM_017023087.2",
"protein_id": "XP_016878576.1",
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},
{
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],
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"intron_rank": 2,
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"gene_symbol": "KATNIP",
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"hgvs_c": "c.64-18085T>C",
"hgvs_p": null,
"transcript": "XM_047433843.1",
"protein_id": "XP_047289799.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
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"intron_variant"
],
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"exon_count": 28,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.-527+26384T>C",
"hgvs_p": null,
"transcript": "XM_047433844.1",
"protein_id": "XP_047289800.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 2,
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"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.64-18085T>C",
"hgvs_p": null,
"transcript": "XM_005255206.4",
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},
{
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"consequences": [
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],
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"exon_count": 18,
"intron_rank": 2,
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"gene_symbol": "KATNIP",
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"hgvs_c": "c.64-18085T>C",
"hgvs_p": null,
"transcript": "XM_047433846.1",
"protein_id": "XP_047289802.1",
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}
],
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"dbsnp": "rs10492922",
"frequency_reference_population": 0.078710884,
"hom_count_reference_population": 579,
"allele_count_reference_population": 11982,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0787109,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 11982,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 579,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"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": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.053,
"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": "ENST00000261588.10",
"gene_symbol": "KATNIP",
"hgnc_id": 29068,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.64-18085T>C",
"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
}