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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: 17-49608827-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=49608827&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 49608827,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000504102.6",
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.659-898T>C",
"hgvs_p": null,
"transcript": "NM_001007228.2",
"protein_id": "NP_001007229.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 374,
"cds_start": -4,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2850,
"mane_select": "ENST00000504102.6",
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.659-898T>C",
"hgvs_p": null,
"transcript": "ENST00000504102.6",
"protein_id": "ENSP00000425905.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 374,
"cds_start": -4,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2850,
"mane_select": "NM_001007228.2",
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.659-898T>C",
"hgvs_p": null,
"transcript": "ENST00000393328.6",
"protein_id": "ENSP00000377001.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 374,
"cds_start": -4,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2985,
"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": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.659-898T>C",
"hgvs_p": null,
"transcript": "NM_001007226.1",
"protein_id": "NP_001007227.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 374,
"cds_start": -4,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3090,
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.659-898T>C",
"hgvs_p": null,
"transcript": "NM_001007227.1",
"protein_id": "NP_001007228.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 374,
"cds_start": -4,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2968,
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.659-898T>C",
"hgvs_p": null,
"transcript": "NM_001007229.1",
"protein_id": "NP_001007230.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 374,
"cds_start": -4,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2967,
"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": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.659-898T>C",
"hgvs_p": null,
"transcript": "NM_001007230.1",
"protein_id": "NP_001007231.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 374,
"cds_start": -4,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3019,
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.659-898T>C",
"hgvs_p": null,
"transcript": "NM_001370730.1",
"protein_id": "NP_001357659.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 374,
"cds_start": -4,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3139,
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.659-898T>C",
"hgvs_p": null,
"transcript": "NM_001370731.1",
"protein_id": "NP_001357660.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 374,
"cds_start": -4,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3088,
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.659-898T>C",
"hgvs_p": null,
"transcript": "NM_001370732.1",
"protein_id": "NP_001357661.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 374,
"cds_start": -4,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2705,
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.659-898T>C",
"hgvs_p": null,
"transcript": "NM_003563.3",
"protein_id": "NP_003554.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 374,
"cds_start": -4,
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"cds_length": 1125,
"cdna_start": null,
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"cdna_length": 3038,
"mane_select": null,
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"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.659-898T>C",
"hgvs_p": null,
"transcript": "ENST00000347630.6",
"protein_id": "ENSP00000240327.2",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.659-898T>C",
"hgvs_p": null,
"transcript": "ENST00000503676.5",
"protein_id": "ENSP00000420908.1",
"transcript_support_level": 2,
"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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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.659-898T>C",
"hgvs_p": null,
"transcript": "ENST00000509079.6",
"protein_id": "ENSP00000426986.2",
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},
{
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],
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"intron_rank": 9,
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"gene_symbol": "SPOP",
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"hgvs_c": "c.659-898T>C",
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"transcript": "ENST00000514121.6",
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"cdna_start": null,
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"mane_select": null,
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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": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.659-898T>C",
"hgvs_p": null,
"transcript": "ENST00000665825.1",
"protein_id": "ENSP00000499562.1",
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},
{
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],
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"gene_symbol": "SPOP",
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"hgvs_c": "c.659-898T>C",
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"transcript": "ENST00000505581.5",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "n.40-898T>C",
"hgvs_p": null,
"transcript": "ENST00000504889.5",
"protein_id": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "n.*384-898T>C",
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"transcript": "ENST00000509869.5",
"protein_id": "ENSP00000423284.1",
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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": [
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],
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"intron_rank": 8,
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"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "n.*508-898T>C",
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"transcript": "ENST00000671445.1",
"protein_id": "ENSP00000499537.1",
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"mane_select": null,
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"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.659-898T>C",
"hgvs_p": null,
"transcript": "XM_024450995.2",
"protein_id": "XP_024306763.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"dbsnp": "rs6504618",
"frequency_reference_population": 0.50199324,
"hom_count_reference_population": 19512,
"allele_count_reference_population": 76311,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.501993,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 76311,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 19512,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"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": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.145,
"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": "ENST00000504102.6",
"gene_symbol": "SPOP",
"hgnc_id": 11254,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.659-898T>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
}