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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: 20-16388359-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=16388359&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 16388359,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000354981.7",
"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": 26,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "KIF16B",
"gene_hgnc_id": 15869,
"hgvs_c": "c.1785-6612T>G",
"hgvs_p": null,
"transcript": "NM_024704.5",
"protein_id": "NP_078980.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1317,
"cds_start": -4,
"cds_end": null,
"cds_length": 3954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5276,
"mane_select": "ENST00000354981.7",
"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": 26,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "KIF16B",
"gene_hgnc_id": 15869,
"hgvs_c": "c.1785-6612T>G",
"hgvs_p": null,
"transcript": "ENST00000354981.7",
"protein_id": "ENSP00000347076.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1317,
"cds_start": -4,
"cds_end": null,
"cds_length": 3954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5276,
"mane_select": "NM_024704.5",
"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": 23,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "KIF16B",
"gene_hgnc_id": 15869,
"hgvs_c": "c.1785-6612T>G",
"hgvs_p": null,
"transcript": "ENST00000408042.5",
"protein_id": "ENSP00000384164.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1392,
"cds_start": -4,
"cds_end": null,
"cds_length": 4179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4640,
"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": 25,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "KIF16B",
"gene_hgnc_id": 15869,
"hgvs_c": "c.1785-6612T>G",
"hgvs_p": null,
"transcript": "ENST00000636835.1",
"protein_id": "ENSP00000489838.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1266,
"cds_start": -4,
"cds_end": null,
"cds_length": 3801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5109,
"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": 23,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "KIF16B",
"gene_hgnc_id": 15869,
"hgvs_c": "c.1785-6229T>G",
"hgvs_p": null,
"transcript": "NM_001410853.1",
"protein_id": "NP_001397782.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1832,
"cds_start": -4,
"cds_end": null,
"cds_length": 5499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5975,
"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": 23,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "KIF16B",
"gene_hgnc_id": 15869,
"hgvs_c": "c.1785-6229T>G",
"hgvs_p": null,
"transcript": "ENST00000635823.2",
"protein_id": "ENSP00000490639.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1832,
"cds_start": -4,
"cds_end": null,
"cds_length": 5499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5909,
"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": 23,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "KIF16B",
"gene_hgnc_id": 15869,
"hgvs_c": "c.1785-6612T>G",
"hgvs_p": null,
"transcript": "NM_001199866.2",
"protein_id": "NP_001186795.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1392,
"cds_start": -4,
"cds_end": null,
"cds_length": 4179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4655,
"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": 25,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "KIF16B",
"gene_hgnc_id": 15869,
"hgvs_c": "c.1785-6612T>G",
"hgvs_p": null,
"transcript": "NM_001199865.2",
"protein_id": "NP_001186794.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1266,
"cds_start": -4,
"cds_end": null,
"cds_length": 3801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5123,
"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": "KIF16B",
"gene_hgnc_id": 15869,
"hgvs_c": "c.54-6229T>G",
"hgvs_p": null,
"transcript": "ENST00000450176.1",
"protein_id": "ENSP00000396264.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 183,
"cds_start": -4,
"cds_end": null,
"cds_length": 554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 556,
"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": 24,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "KIF16B",
"gene_hgnc_id": 15869,
"hgvs_c": "c.1785-6229T>G",
"hgvs_p": null,
"transcript": "XM_005260750.4",
"protein_id": "XP_005260807.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1883,
"cds_start": -4,
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"cdna_start": null,
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"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": 23,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "KIF16B",
"gene_hgnc_id": 15869,
"hgvs_c": "c.1785-6612T>G",
"hgvs_p": null,
"transcript": "XM_005260751.5",
"protein_id": "XP_005260808.1",
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"cdna_start": null,
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "KIF16B",
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"transcript": "XM_047440261.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "KIF16B",
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"hgvs_c": "c.1785-6229T>G",
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"transcript": "XM_005260753.4",
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},
{
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],
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"gene_symbol": "KIF16B",
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},
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],
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"gene_symbol": "KIF16B",
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},
{
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],
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"gene_symbol": "KIF16B",
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],
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"gene_symbol": "KIF16B",
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"hgvs_c": "c.1785-6229T>G",
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},
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],
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"gene_symbol": "KIF16B",
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"hgvs_c": "c.1785-6612T>G",
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"transcript": "XM_017027926.2",
"protein_id": "XP_016883415.1",
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},
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],
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},
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],
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 24,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "KIF16B",
"gene_hgnc_id": 15869,
"hgvs_c": "c.1785-6612T>G",
"hgvs_p": null,
"transcript": "XM_047440266.1",
"protein_id": "XP_047296222.1",
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"feature": null
}
],
"gene_symbol": "KIF16B",
"gene_hgnc_id": 15869,
"dbsnp": "rs2208056",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"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": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.552,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000354981.7",
"gene_symbol": "KIF16B",
"hgnc_id": 15869,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1785-6612T>G",
"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
}