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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: 4-17879862-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=17879862&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 17879862,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000635767.2",
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LCORL",
"gene_hgnc_id": 30776,
"hgvs_c": "c.777-1649A>G",
"hgvs_p": null,
"transcript": "NM_001394446.1",
"protein_id": "NP_001381375.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1871,
"cds_start": -4,
"cds_end": null,
"cds_length": 5616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10321,
"mane_select": "ENST00000635767.2",
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LCORL",
"gene_hgnc_id": 30776,
"hgvs_c": "c.777-1649A>G",
"hgvs_p": null,
"transcript": "ENST00000635767.2",
"protein_id": "ENSP00000490600.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1871,
"cds_start": -4,
"cds_end": null,
"cds_length": 5616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10321,
"mane_select": "NM_001394446.1",
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LCORL",
"gene_hgnc_id": 30776,
"hgvs_c": "c.776+6206A>G",
"hgvs_p": null,
"transcript": "ENST00000326877.8",
"protein_id": "ENSP00000317566.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 318,
"cds_start": -4,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5604,
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "LCORL",
"gene_hgnc_id": 30776,
"hgvs_c": "c.1251+4413A>G",
"hgvs_p": null,
"transcript": "ENST00000675605.1",
"protein_id": "ENSP00000501939.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 432,
"cds_start": -4,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2106,
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LCORL",
"gene_hgnc_id": 30776,
"hgvs_c": "c.776+6206A>G",
"hgvs_p": null,
"transcript": "NM_001365660.1",
"protein_id": "NP_001352589.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 327,
"cds_start": -4,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5630,
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LCORL",
"gene_hgnc_id": 30776,
"hgvs_c": "c.776+6206A>G",
"hgvs_p": null,
"transcript": "ENST00000675143.1",
"protein_id": "ENSP00000502692.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 327,
"cds_start": -4,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4941,
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LCORL",
"gene_hgnc_id": 30776,
"hgvs_c": "c.776+6206A>G",
"hgvs_p": null,
"transcript": "NM_153686.8",
"protein_id": "NP_710153.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 318,
"cds_start": -4,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5603,
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LCORL",
"gene_hgnc_id": 30776,
"hgvs_c": "c.773+6206A>G",
"hgvs_p": null,
"transcript": "ENST00000675927.1",
"protein_id": "ENSP00000502059.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 271,
"cds_start": -4,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1541,
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LCORL",
"gene_hgnc_id": 30776,
"hgvs_c": "c.682+29232A>G",
"hgvs_p": null,
"transcript": "NM_001365663.1",
"protein_id": "NP_001352592.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 231,
"cds_start": -4,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5509,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LCORL",
"gene_hgnc_id": 30776,
"hgvs_c": "c.431-33961A>G",
"hgvs_p": null,
"transcript": "NM_001365665.1",
"protein_id": "NP_001352594.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": -4,
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"cds_length": 444,
"cdna_start": null,
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"cdna_length": 5257,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LCORL",
"gene_hgnc_id": 30776,
"hgvs_c": "n.224+6206A>G",
"hgvs_p": null,
"transcript": "ENST00000510121.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
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"consequences": [
"intron_variant"
],
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"exon_count": 5,
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"gene_symbol": "LCORL",
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"hgvs_c": "n.*362+29232A>G",
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"transcript": "ENST00000510451.5",
"protein_id": "ENSP00000423489.1",
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},
{
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"consequences": [
"intron_variant"
],
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"exon_count": 8,
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"gene_symbol": "LCORL",
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"hgvs_c": "n.*457-1649A>G",
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"transcript": "ENST00000637787.1",
"protein_id": "ENSP00000490873.1",
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},
{
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"strand": false,
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],
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"gene_symbol": "LCORL",
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},
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],
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 5,
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"gene_symbol": "LCORL",
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},
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],
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},
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],
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"gene_symbol": "LCORL",
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"hgvs_c": "n.1967+6206A>G",
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"transcript": "NR_158565.1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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],
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},
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],
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"gene_symbol": "LCORL",
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"transcript": "XM_047449965.1",
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},
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"consequences": [
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],
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"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LCORL",
"gene_hgnc_id": 30776,
"hgvs_c": "c.524+6206A>G",
"hgvs_p": null,
"transcript": "XM_017007965.2",
"protein_id": "XP_016863454.1",
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"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "LCORL",
"gene_hgnc_id": 30776,
"dbsnp": "rs10489042",
"frequency_reference_population": 0.10069799,
"hom_count_reference_population": 1778,
"allele_count_reference_population": 15206,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.100698,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 15206,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 1778,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1.0099999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -1.01,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.571,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "ENST00000635767.2",
"gene_symbol": "LCORL",
"hgnc_id": 30776,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.777-1649A>G",
"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
}