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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: 1-210672986-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=210672986&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 210672986,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000261458.8",
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "HHAT",
"gene_hgnc_id": 18270,
"hgvs_c": "c.1391-1302G>C",
"hgvs_p": null,
"transcript": "NM_018194.6",
"protein_id": "NP_060664.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": -4,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3639,
"mane_select": "ENST00000261458.8",
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "HHAT",
"gene_hgnc_id": 18270,
"hgvs_c": "c.1391-1302G>C",
"hgvs_p": null,
"transcript": "ENST00000261458.8",
"protein_id": "ENSP00000261458.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": -4,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3639,
"mane_select": "NM_018194.6",
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "HHAT",
"gene_hgnc_id": 18270,
"hgvs_c": "c.1394-1302G>C",
"hgvs_p": null,
"transcript": "NM_001170587.3",
"protein_id": "NP_001164058.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 494,
"cds_start": -4,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3505,
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "HHAT",
"gene_hgnc_id": 18270,
"hgvs_c": "c.1394-1302G>C",
"hgvs_p": null,
"transcript": "ENST00000545154.5",
"protein_id": "ENSP00000438468.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 494,
"cds_start": -4,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3507,
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "HHAT",
"gene_hgnc_id": 18270,
"hgvs_c": "c.1391-1302G>C",
"hgvs_p": null,
"transcript": "NM_001122834.4",
"protein_id": "NP_001116306.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": -4,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3569,
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "HHAT",
"gene_hgnc_id": 18270,
"hgvs_c": "c.1391-1302G>C",
"hgvs_p": null,
"transcript": "NM_001170580.3",
"protein_id": "NP_001164051.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": -4,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3554,
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "HHAT",
"gene_hgnc_id": 18270,
"hgvs_c": "c.1391-1302G>C",
"hgvs_p": null,
"transcript": "ENST00000367010.5",
"protein_id": "ENSP00000355977.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": -4,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3626,
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "HHAT",
"gene_hgnc_id": 18270,
"hgvs_c": "c.1391-1302G>C",
"hgvs_p": null,
"transcript": "ENST00000413764.6",
"protein_id": "ENSP00000416845.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": -4,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3575,
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "HHAT",
"gene_hgnc_id": 18270,
"hgvs_c": "c.1196-1302G>C",
"hgvs_p": null,
"transcript": "NM_001170588.3",
"protein_id": "NP_001164059.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 428,
"cds_start": -4,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3444,
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "HHAT",
"gene_hgnc_id": 18270,
"hgvs_c": "c.1196-1302G>C",
"hgvs_p": null,
"transcript": "ENST00000537898.5",
"protein_id": "ENSP00000442625.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 428,
"cds_start": -4,
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"cds_length": 1287,
"cdna_start": null,
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"cdna_length": 3446,
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "HHAT",
"gene_hgnc_id": 18270,
"hgvs_c": "c.980-1302G>C",
"hgvs_p": null,
"transcript": "NM_001170564.3",
"protein_id": "NP_001164035.1",
"transcript_support_level": null,
"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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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 9,
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"gene_symbol": "HHAT",
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"hgvs_c": "c.980-1302G>C",
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"transcript": "ENST00000541565.5",
"protein_id": "ENSP00000444995.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "HHAT",
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"hgvs_c": "c.461-1302G>C",
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"transcript": "ENST00000367009.2",
"protein_id": "ENSP00000355976.1",
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"aa_start": null,
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 10,
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"gene_symbol": "HHAT",
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"hgvs_c": "c.1634-1302G>C",
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"transcript": "XM_047424791.1",
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},
{
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],
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"gene_symbol": "HHAT",
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"transcript": "XM_006711441.4",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "HHAT",
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"hgvs_c": "c.1469-1302G>C",
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},
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],
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"gene_symbol": "HHAT",
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"hgvs_c": "c.1391-1302G>C",
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"transcript": "XM_047424804.1",
"protein_id": "XP_047280760.1",
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},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 12,
"intron_rank": 11,
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"gene_symbol": "HHAT",
"gene_hgnc_id": 18270,
"hgvs_c": "c.1298-1302G>C",
"hgvs_p": null,
"transcript": "XM_047424805.1",
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},
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "HHAT",
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"hgvs_c": "c.1202-1302G>C",
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"transcript": "XM_011509747.2",
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},
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],
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},
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],
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"hgvs_c": "c.1178-1302G>C",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 10,
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"gene_symbol": "HHAT",
"gene_hgnc_id": 18270,
"hgvs_c": "c.1082-1302G>C",
"hgvs_p": null,
"transcript": "XM_047424817.1",
"protein_id": "XP_047280773.1",
"transcript_support_level": null,
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"mane_select": null,
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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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "HHAT",
"gene_hgnc_id": 18270,
"hgvs_c": "c.1007-1302G>C",
"hgvs_p": null,
"transcript": "XM_047424823.1",
"protein_id": "XP_047280779.1",
"transcript_support_level": null,
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},
{
"aa_ref": null,
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],
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"gene_symbol": "HHAT",
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"hgvs_c": "c.983-1302G>C",
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"transcript": "XM_047424835.1",
"protein_id": "XP_047280791.1",
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}
],
"gene_symbol": "HHAT",
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"dbsnp": "rs6659502",
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"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": -0.800000011920929,
"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": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.539,
"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": "ENST00000261458.8",
"gene_symbol": "HHAT",
"hgnc_id": 18270,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1391-1302G>C",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}