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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: 10-27221405-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=27221405&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 27221405,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000396271.8",
"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": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACBD5",
"gene_hgnc_id": 23338,
"hgvs_c": "c.491-1548A>T",
"hgvs_p": null,
"transcript": "NM_145698.5",
"protein_id": "NP_663736.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": -4,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3903,
"mane_select": "ENST00000396271.8",
"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": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACBD5",
"gene_hgnc_id": 23338,
"hgvs_c": "c.491-1548A>T",
"hgvs_p": null,
"transcript": "ENST00000396271.8",
"protein_id": "ENSP00000379568.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": -4,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3903,
"mane_select": "NM_145698.5",
"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": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ACBD5",
"gene_hgnc_id": 23338,
"hgvs_c": "c.164-1548A>T",
"hgvs_p": null,
"transcript": "ENST00000375901.5",
"protein_id": "ENSP00000365066.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 416,
"cds_start": -4,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3685,
"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": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ACBD5",
"gene_hgnc_id": 23338,
"hgvs_c": "c.545-1548A>T",
"hgvs_p": null,
"transcript": "NM_001352568.1",
"protein_id": "NP_001339497.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 543,
"cds_start": -4,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4008,
"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": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ACBD5",
"gene_hgnc_id": 23338,
"hgvs_c": "c.524-1548A>T",
"hgvs_p": null,
"transcript": "NM_001352569.1",
"protein_id": "NP_001339498.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 536,
"cds_start": -4,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4018,
"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": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACBD5",
"gene_hgnc_id": 23338,
"hgvs_c": "c.491-1548A>T",
"hgvs_p": null,
"transcript": "NM_001352570.1",
"protein_id": "NP_001339499.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 534,
"cds_start": -4,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3234,
"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": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACBD5",
"gene_hgnc_id": 23338,
"hgvs_c": "c.518-1548A>T",
"hgvs_p": null,
"transcript": "NM_001352571.1",
"protein_id": "NP_001339500.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 534,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4207,
"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": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACBD5",
"gene_hgnc_id": 23338,
"hgvs_c": "c.518-1548A>T",
"hgvs_p": null,
"transcript": "ENST00000375888.5",
"protein_id": "ENSP00000365049.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 534,
"cds_start": -4,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1747,
"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": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACBD5",
"gene_hgnc_id": 23338,
"hgvs_c": "c.491-1548A>T",
"hgvs_p": null,
"transcript": "ENST00000676997.1",
"protein_id": "ENSP00000503467.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 534,
"cds_start": -4,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACBD5",
"gene_hgnc_id": 23338,
"hgvs_c": "c.512-1548A>T",
"hgvs_p": null,
"transcript": "NM_001352572.1",
"protein_id": "NP_001339501.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 532,
"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ACBD5",
"gene_hgnc_id": 23338,
"hgvs_c": "c.485-1548A>T",
"hgvs_p": null,
"transcript": "NM_001271512.3",
"protein_id": "NP_001258441.1",
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"aa_start": null,
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"cds_start": -4,
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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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"intron_rank": 4,
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"gene_symbol": "ACBD5",
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"hgvs_c": "c.485-1548A>T",
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"transcript": "ENST00000375897.7",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "ACBD5",
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"hgvs_c": "c.419-1548A>T",
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"transcript": "ENST00000676511.1",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 5,
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"gene_symbol": "ACBD5",
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"hgvs_c": "c.386-1548A>T",
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"transcript": "ENST00000677441.1",
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},
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],
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"gene_symbol": "ACBD5",
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"hgvs_c": "c.524-1602A>T",
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"transcript": "NM_001352573.1",
"protein_id": "NP_001339502.1",
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},
{
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"strand": false,
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],
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"exon_count": 15,
"intron_rank": 7,
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"gene_symbol": "ACBD5",
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"hgvs_c": "c.469+291A>T",
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"transcript": "ENST00000677141.1",
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},
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],
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"gene_symbol": "ACBD5",
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"hgvs_c": "c.485-1548A>T",
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"transcript": "ENST00000677311.1",
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},
{
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],
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"exon_count": 14,
"intron_rank": 6,
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"gene_symbol": "ACBD5",
"gene_hgnc_id": 23338,
"hgvs_c": "c.419-1548A>T",
"hgvs_p": null,
"transcript": "NM_001352574.2",
"protein_id": "NP_001339503.1",
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},
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],
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"intron_rank": 6,
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"gene_symbol": "ACBD5",
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],
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},
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],
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},
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"consequences": [
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],
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"gene_symbol": "ACBD5",
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"hgvs_c": "c.419-1548A>T",
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"transcript": "ENST00000677509.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACBD5",
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"hgvs_c": "c.386-1548A>T",
"hgvs_p": null,
"transcript": "NM_001042473.4",
"protein_id": "NP_001035938.1",
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},
{
"aa_ref": null,
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"intron_variant"
],
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"gene_symbol": "ACBD5",
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}
],
"gene_symbol": "ACBD5",
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"dbsnp": "rs788216",
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"hom_count_reference_population": 3560,
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"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.195171,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 29705,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 3560,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7200000286102295,
"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": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.181,
"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": "ENST00000396271.8",
"gene_symbol": "ACBD5",
"hgnc_id": 23338,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.491-1548A>T",
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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
}