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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: 1-113947067-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=113947067&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 113947067,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000426820.7",
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HIPK1",
"gene_hgnc_id": 19006,
"hgvs_c": "c.1076+5608T>A",
"hgvs_p": null,
"transcript": "NM_198268.3",
"protein_id": "NP_938009.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1210,
"cds_start": -4,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8201,
"mane_select": "ENST00000426820.7",
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HIPK1",
"gene_hgnc_id": 19006,
"hgvs_c": "c.1076+5608T>A",
"hgvs_p": null,
"transcript": "ENST00000426820.7",
"protein_id": "ENSP00000407442.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1210,
"cds_start": -4,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8201,
"mane_select": "NM_198268.3",
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HIPK1",
"gene_hgnc_id": 19006,
"hgvs_c": "c.1076+5608T>A",
"hgvs_p": null,
"transcript": "ENST00000369558.5",
"protein_id": "ENSP00000358571.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1210,
"cds_start": -4,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8157,
"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": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HIPK1",
"gene_hgnc_id": 19006,
"hgvs_c": "c.1076+5608T>A",
"hgvs_p": null,
"transcript": "ENST00000369559.8",
"protein_id": "ENSP00000358572.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1075,
"cds_start": -4,
"cds_end": null,
"cds_length": 3228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3424,
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HIPK1",
"gene_hgnc_id": 19006,
"hgvs_c": "c.1076+5608T>A",
"hgvs_p": null,
"transcript": "NM_001369806.1",
"protein_id": "NP_001356735.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1210,
"cds_start": -4,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8088,
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HIPK1",
"gene_hgnc_id": 19006,
"hgvs_c": "c.1076+5608T>A",
"hgvs_p": null,
"transcript": "NM_001369807.1",
"protein_id": "NP_001356736.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1209,
"cds_start": -4,
"cds_end": null,
"cds_length": 3630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8085,
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HIPK1",
"gene_hgnc_id": 19006,
"hgvs_c": "c.1076+5608T>A",
"hgvs_p": null,
"transcript": "NM_001410847.1",
"protein_id": "NP_001397776.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1176,
"cds_start": -4,
"cds_end": null,
"cds_length": 3531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7986,
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HIPK1",
"gene_hgnc_id": 19006,
"hgvs_c": "c.1076+5608T>A",
"hgvs_p": null,
"transcript": "ENST00000369561.8",
"protein_id": "ENSP00000358574.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1176,
"cds_start": -4,
"cds_end": null,
"cds_length": 3531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3777,
"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": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HIPK1",
"gene_hgnc_id": 19006,
"hgvs_c": "c.1076+5608T>A",
"hgvs_p": null,
"transcript": "ENST00000369555.6",
"protein_id": "ENSP00000358568.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1165,
"cds_start": -4,
"cds_end": null,
"cds_length": 3498,
"cdna_start": null,
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"cdna_length": 3966,
"mane_select": null,
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"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": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HIPK1",
"gene_hgnc_id": 19006,
"hgvs_c": "c.1076+5608T>A",
"hgvs_p": null,
"transcript": "ENST00000626993.2",
"protein_id": "ENSP00000486090.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 1165,
"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
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HIPK1",
"gene_hgnc_id": 19006,
"hgvs_c": "c.1076+5608T>A",
"hgvs_p": null,
"transcript": "NM_152696.4",
"protein_id": "NP_689909.2",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"gene_symbol": "HIPK1",
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"hgvs_c": "c.1076+5608T>A",
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"transcript": "XM_047449134.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
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"gene_symbol": "HIPK1",
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"hgvs_c": "c.1076+5608T>A",
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"transcript": "XM_047449139.1",
"protein_id": "XP_047305095.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"gene_symbol": "HIPK1",
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"hgvs_c": "c.1076+5608T>A",
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"transcript": "XM_005270610.6",
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},
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"transcript": "XM_005270611.6",
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},
{
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],
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"gene_symbol": "HIPK1",
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"transcript": "XM_047449119.1",
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],
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"gene_symbol": "HIPK1",
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"hgvs_c": "c.1076+5608T>A",
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"transcript": "XM_006710443.5",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "HIPK1",
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"hgvs_c": "c.1076+5608T>A",
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"transcript": "XM_047449128.1",
"protein_id": "XP_047305084.1",
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},
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],
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"gene_symbol": "HIPK1",
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],
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"intron_rank": 2,
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},
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],
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"intron_rank": 2,
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"gene_symbol": "HIPK1",
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"feature": null
}
],
"gene_symbol": "HIPK1",
"gene_hgnc_id": 19006,
"dbsnp": "rs1503832",
"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": -0.8100000023841858,
"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": -0.367,
"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": "ENST00000426820.7",
"gene_symbol": "HIPK1",
"hgnc_id": 19006,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1076+5608T>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
}