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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: 3-33628852-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=33628852&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 33628852,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000682230.1",
"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": 39,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CLASP2",
"gene_hgnc_id": 17078,
"hgvs_c": "c.943-1772G>T",
"hgvs_p": null,
"transcript": "NM_001365631.1",
"protein_id": "NP_001352560.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1506,
"cds_start": -4,
"cds_end": null,
"cds_length": 4521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7159,
"mane_select": "ENST00000682230.1",
"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": 39,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CLASP2",
"gene_hgnc_id": 17078,
"hgvs_c": "c.943-1772G>T",
"hgvs_p": null,
"transcript": "ENST00000682230.1",
"protein_id": "ENSP00000507498.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1506,
"cds_start": -4,
"cds_end": null,
"cds_length": 4521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7159,
"mane_select": "NM_001365631.1",
"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": 3,
"intron_rank_end": null,
"gene_symbol": "CLASP2",
"gene_hgnc_id": 17078,
"hgvs_c": "c.262-1772G>T",
"hgvs_p": null,
"transcript": "ENST00000313350.10",
"protein_id": "ENSP00000324364.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 431,
"cds_start": -4,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1597,
"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": 40,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CLASP2",
"gene_hgnc_id": 17078,
"hgvs_c": "c.946-1772G>T",
"hgvs_p": null,
"transcript": "NM_001365628.1",
"protein_id": "NP_001352557.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1535,
"cds_start": -4,
"cds_end": null,
"cds_length": 4608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7246,
"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": 40,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CLASP2",
"gene_hgnc_id": 17078,
"hgvs_c": "c.943-1772G>T",
"hgvs_p": null,
"transcript": "NM_001365629.1",
"protein_id": "NP_001352558.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1534,
"cds_start": -4,
"cds_end": null,
"cds_length": 4605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7243,
"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": 40,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CLASP2",
"gene_hgnc_id": 17078,
"hgvs_c": "c.943-1772G>T",
"hgvs_p": null,
"transcript": "NM_001365627.1",
"protein_id": "NP_001352556.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1527,
"cds_start": -4,
"cds_end": null,
"cds_length": 4584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CLASP2",
"gene_hgnc_id": 17078,
"hgvs_c": "c.943-1772G>T",
"hgvs_p": null,
"transcript": "NM_001375694.1",
"protein_id": "NP_001362623.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1526,
"cds_start": -4,
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"cdna_start": null,
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"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": 38,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CLASP2",
"gene_hgnc_id": 17078,
"hgvs_c": "c.943-1772G>T",
"hgvs_p": null,
"transcript": "NM_001375697.1",
"protein_id": "NP_001362626.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1518,
"cds_start": -4,
"cds_end": null,
"cds_length": 4557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7195,
"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": 40,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CLASP2",
"gene_hgnc_id": 17078,
"hgvs_c": "c.946-1772G>T",
"hgvs_p": null,
"transcript": "NM_015097.3",
"protein_id": "NP_055912.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1515,
"cds_start": -4,
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"cds_length": 4548,
"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "CLASP2",
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"hgvs_c": "c.943-1772G>T",
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"transcript": "NM_001375700.1",
"protein_id": "NP_001362629.1",
"transcript_support_level": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "CLASP2",
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"hgvs_c": "c.946-1772G>T",
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"transcript": "NM_001375701.1",
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},
{
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],
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"transcript": "ENST00000468888.6",
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},
{
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],
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"gene_symbol": "CLASP2",
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},
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],
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"gene_symbol": "CLASP2",
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"hgvs_c": "c.943-1772G>T",
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],
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},
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],
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},
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],
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},
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],
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"gene_symbol": "CLASP2",
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"hgvs_c": "c.646-1772G>T",
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},
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],
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"gene_symbol": "CLASP2",
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"hgvs_c": "c.262-1772G>T",
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},
{
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}
],
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"gnomad_genomes_af": 0.217214,
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"gnomad_genomes_ac": 32997,
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"gnomad_genomes_homalt": 3988,
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"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.863,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -12,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000682230.1",
"gene_symbol": "CLASP2",
"hgnc_id": 17078,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.943-1772G>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
}