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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: 11-76669313-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=76669313&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LRRC32",
"hgnc_id": 4161,
"hgvs_c": "c.-5+449G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_005512.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 78338,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.81,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8100000023841858,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 662,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4207,
"cdna_start": null,
"cds_end": null,
"cds_length": 1989,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001128922.2",
"gene_hgnc_id": 4161,
"gene_symbol": "LRRC32",
"hgvs_c": "c.-5+1301G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000260061.9",
"protein_coding": true,
"protein_id": "NP_001122394.1",
"strand": false,
"transcript": "NM_001128922.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 662,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4207,
"cdna_start": null,
"cds_end": null,
"cds_length": 1989,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000260061.9",
"gene_hgnc_id": 4161,
"gene_symbol": "LRRC32",
"hgvs_c": "c.-5+1301G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001128922.2",
"protein_coding": true,
"protein_id": "ENSP00000260061.5",
"strand": false,
"transcript": "ENST00000260061.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 662,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4311,
"cdna_start": null,
"cds_end": null,
"cds_length": 1989,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000407242.6",
"gene_hgnc_id": 4161,
"gene_symbol": "LRRC32",
"hgvs_c": "c.-5+449G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384126.2",
"strand": false,
"transcript": "ENST00000407242.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 185,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 801,
"cdna_start": null,
"cds_end": null,
"cds_length": 558,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000421973.1",
"gene_hgnc_id": 4161,
"gene_symbol": "LRRC32",
"hgvs_c": "c.-5+449G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413331.1",
"strand": false,
"transcript": "ENST00000421973.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 671,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3133,
"cdna_start": null,
"cds_end": null,
"cds_length": 2016,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858024.1",
"gene_hgnc_id": 4161,
"gene_symbol": "LRRC32",
"hgvs_c": "c.-5+1301G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528083.1",
"strand": false,
"transcript": "ENST00000858024.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 662,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2659,
"cdna_start": null,
"cds_end": null,
"cds_length": 1989,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001370187.1",
"gene_hgnc_id": 4161,
"gene_symbol": "LRRC32",
"hgvs_c": "c.-5+1301G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357116.1",
"strand": false,
"transcript": "NM_001370187.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 662,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2702,
"cdna_start": null,
"cds_end": null,
"cds_length": 1989,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001370188.1",
"gene_hgnc_id": 4161,
"gene_symbol": "LRRC32",
"hgvs_c": "c.-5+449G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357117.1",
"strand": false,
"transcript": "NM_001370188.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 662,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4286,
"cdna_start": null,
"cds_end": null,
"cds_length": 1989,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005512.3",
"gene_hgnc_id": 4161,
"gene_symbol": "LRRC32",
"hgvs_c": "c.-5+449G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005503.1",
"strand": false,
"transcript": "NM_005512.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 662,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2656,
"cdna_start": null,
"cds_end": null,
"cds_length": 1989,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000404995.5",
"gene_hgnc_id": 4161,
"gene_symbol": "LRRC32",
"hgvs_c": "c.-5+1301G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385766.1",
"strand": false,
"transcript": "ENST00000404995.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 662,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4154,
"cdna_start": null,
"cds_end": null,
"cds_length": 1989,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957909.1",
"gene_hgnc_id": 4161,
"gene_symbol": "LRRC32",
"hgvs_c": "c.-5+1468G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627968.1",
"strand": false,
"transcript": "ENST00000957909.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 662,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4194,
"cdna_start": null,
"cds_end": null,
"cds_length": 1989,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957910.1",
"gene_hgnc_id": 4161,
"gene_symbol": "LRRC32",
"hgvs_c": "c.-3+1301G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627969.1",
"strand": false,
"transcript": "ENST00000957910.1",
"transcript_support_level": null
},
{
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"aa_length": 662,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4122,
"cdna_start": null,
"cds_end": null,
"cds_length": 1989,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957911.1",
"gene_hgnc_id": 4161,
"gene_symbol": "LRRC32",
"hgvs_c": "c.-5+653G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627970.1",
"strand": false,
"transcript": "ENST00000957911.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3016,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
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"feature": "ENST00000957912.1",
"gene_hgnc_id": 4161,
"gene_symbol": "LRRC32",
"hgvs_c": "c.-5+840G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627971.1",
"strand": false,
"transcript": "ENST00000957912.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 640,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4273,
"cdna_start": null,
"cds_end": null,
"cds_length": 1923,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001370189.1",
"gene_hgnc_id": 4161,
"gene_symbol": "LRRC32",
"hgvs_c": "c.-94+449G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357118.1",
"strand": false,
"transcript": "NM_001370189.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 552,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4119,
"cdna_start": null,
"cds_end": null,
"cds_length": 1659,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
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"feature": "NM_001370190.1",
"gene_hgnc_id": 4161,
"gene_symbol": "LRRC32",
"hgvs_c": "c.-247+1301G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357119.1",
"strand": false,
"transcript": "NM_001370190.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 733,
"cdna_start": null,
"cds_end": null,
"cds_length": 135,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001370191.1",
"gene_hgnc_id": 4161,
"gene_symbol": "LRRC32",
"hgvs_c": "c.-5+1301G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357120.1",
"strand": false,
"transcript": "NM_001370191.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4773,
"cdna_start": null,
"cds_end": null,
"cds_length": 1989,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011544935.4",
"gene_hgnc_id": 4161,
"gene_symbol": "LRRC32",
"hgvs_c": "c.-5+653G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011543237.1",
"strand": false,
"transcript": "XM_011544935.4",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
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"feature": "XM_047426743.1",
"gene_hgnc_id": 4161,
"gene_symbol": "LRRC32",
"hgvs_c": "c.-94+1301G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047282699.1",
"strand": false,
"transcript": "XM_047426743.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3705,
"cdna_start": null,
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"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_163259.1",
"gene_hgnc_id": 4161,
"gene_symbol": "LRRC32",
"hgvs_c": "n.177+449G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_163259.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs10899249",
"effect": "intron_variant",
"frequency_reference_population": 0.5186024,
"gene_hgnc_id": 4161,
"gene_symbol": "LRRC32",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": 78338,
"gnomad_genomes_af": 0.518602,
"gnomad_genomes_homalt": 20470,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 20470,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.549,
"pos": 76669313,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_005512.3"
}
]
}