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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: 10-102431844-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=102431844&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 102431844,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_024040.3",
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.-11+682A>G",
"hgvs_p": null,
"transcript": "NM_024040.3",
"protein_id": "NP_076945.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 287,
"cds_start": null,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369937.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024040.3"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.-11+682A>G",
"hgvs_p": null,
"transcript": "ENST00000369937.5",
"protein_id": "ENSP00000358953.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 287,
"cds_start": null,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024040.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369937.5"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.-11+682A>G",
"hgvs_p": null,
"transcript": "ENST00000888785.1",
"protein_id": "ENSP00000558844.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 289,
"cds_start": null,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888785.1"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.-6+682A>G",
"hgvs_p": null,
"transcript": "ENST00000925790.1",
"protein_id": "ENSP00000595849.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 289,
"cds_start": null,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925790.1"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.-8+682A>G",
"hgvs_p": null,
"transcript": "ENST00000925792.1",
"protein_id": "ENSP00000595851.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 289,
"cds_start": null,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925792.1"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.-8+682A>G",
"hgvs_p": null,
"transcript": "ENST00000888778.1",
"protein_id": "ENSP00000558837.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 287,
"cds_start": null,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888778.1"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.-6+682A>G",
"hgvs_p": null,
"transcript": "ENST00000888779.1",
"protein_id": "ENSP00000558838.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 287,
"cds_start": null,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888779.1"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.-185+682A>G",
"hgvs_p": null,
"transcript": "ENST00000888780.1",
"protein_id": "ENSP00000558839.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 287,
"cds_start": null,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888780.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.-59+682A>G",
"hgvs_p": null,
"transcript": "ENST00000888781.1",
"protein_id": "ENSP00000558840.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 287,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888781.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 1,
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"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.-159+682A>G",
"hgvs_p": null,
"transcript": "ENST00000888783.1",
"protein_id": "ENSP00000558842.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 287,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888783.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
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"gene_symbol": "CUEDC2",
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"hgvs_c": "c.-100+682A>G",
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"transcript": "ENST00000925786.1",
"protein_id": "ENSP00000595845.1",
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},
{
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],
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},
{
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"strand": false,
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],
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"gene_symbol": "CUEDC2",
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"transcript": "ENST00000925788.1",
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},
{
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],
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "CUEDC2",
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"hgvs_c": "c.-97+621A>G",
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"transcript": "ENST00000925794.1",
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},
{
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],
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"gene_symbol": "CUEDC2",
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},
{
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],
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"gene_symbol": "CUEDC2",
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"hgvs_c": "c.-11+682A>G",
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"transcript": "ENST00000941431.1",
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},
{
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],
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"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.-11+682A>G",
"hgvs_p": null,
"transcript": "ENST00000888784.1",
"protein_id": "ENSP00000558843.1",
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},
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],
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},
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],
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},
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],
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"biotype": "protein_coding",
"feature": "ENST00000925789.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.-11+682A>G",
"hgvs_p": null,
"transcript": "ENST00000925791.1",
"protein_id": "ENSP00000595850.1",
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"mane_select": null,
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"feature": "ENST00000925791.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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{
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{
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],
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"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.82,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_by_gene": [
{
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"BA1"
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"verdict": "Benign",
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{
"score": -12,
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"verdict": "Benign",
"transcript": "ENST00000755383.1",
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"effects": [
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],
"inheritance_mode": "",
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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
}