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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: 1-53290007-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=53290007&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 53290007,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000306052.12",
"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": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.245-318T>G",
"hgvs_p": null,
"transcript": "NM_004631.5",
"protein_id": "NP_004622.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 963,
"cds_start": -4,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7704,
"mane_select": "ENST00000306052.12",
"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": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.245-318T>G",
"hgvs_p": null,
"transcript": "ENST00000306052.12",
"protein_id": "ENSP00000303634.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 963,
"cds_start": -4,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7704,
"mane_select": "NM_004631.5",
"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": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.245-318T>G",
"hgvs_p": null,
"transcript": "ENST00000371454.6",
"protein_id": "ENSP00000360509.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 904,
"cds_start": -4,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3322,
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.245-318T>G",
"hgvs_p": null,
"transcript": "ENST00000347547.7",
"protein_id": "ENSP00000334522.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 793,
"cds_start": -4,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2392,
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.245-318T>G",
"hgvs_p": null,
"transcript": "ENST00000354412.7",
"protein_id": "ENSP00000346391.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 700,
"cds_start": -4,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2553,
"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": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.245-318T>G",
"hgvs_p": null,
"transcript": "ENST00000667377.1",
"protein_id": "ENSP00000499405.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 926,
"cds_start": -4,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3258,
"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": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.245-318T>G",
"hgvs_p": null,
"transcript": "NM_001018054.3",
"protein_id": "NP_001018064.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 904,
"cds_start": -4,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
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"cdna_length": 7527,
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.245-318T>G",
"hgvs_p": null,
"transcript": "ENST00000659993.1",
"protein_id": "ENSP00000499697.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 888,
"cds_start": -4,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3477,
"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": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.245-318T>G",
"hgvs_p": null,
"transcript": "ENST00000668448.1",
"protein_id": "ENSP00000499273.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 888,
"cds_start": -4,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4324,
"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": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.227-318T>G",
"hgvs_p": null,
"transcript": "ENST00000465675.6",
"protein_id": "ENSP00000437009.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 841,
"cds_start": -4,
"cds_end": null,
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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": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.245-318T>G",
"hgvs_p": null,
"transcript": "ENST00000662198.1",
"protein_id": "ENSP00000499355.1",
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "LRP8",
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"hgvs_c": "c.245-318T>G",
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"transcript": "NM_033300.4",
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},
{
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"consequences": [
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],
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"gene_symbol": "LRP8",
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"hgvs_c": "c.245-318T>G",
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"transcript": "ENST00000657895.1",
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},
{
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"strand": false,
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],
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"gene_symbol": "LRP8",
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},
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],
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},
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],
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"gene_symbol": "LRP8",
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},
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],
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"gene_symbol": "LRP8",
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"hgvs_c": "c.245-318T>G",
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"transcript": "NM_017522.5",
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},
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],
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"gene_symbol": "LRP8",
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"hgvs_c": "n.245-318T>G",
"hgvs_p": null,
"transcript": "ENST00000480045.6",
"protein_id": "ENSP00000433554.2",
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},
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],
"exon_rank": null,
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"exon_count": 3,
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"gene_symbol": "LRP8",
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"hgvs_c": "n.150-318T>G",
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},
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],
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},
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],
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"gene_symbol": "LRP8",
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"hgvs_c": "n.*330-318T>G",
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"transcript": "ENST00000661457.1",
"protein_id": "ENSP00000499547.1",
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "n.306-318T>G",
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"transcript": "ENST00000668991.1",
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},
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 17,
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"gene_symbol": "LRP8",
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"hgvs_c": "n.371-318T>G",
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"transcript": "ENST00000669432.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 10750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LRP8",
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"dbsnp": "rs12039021",
"frequency_reference_population": 0.34474838,
"hom_count_reference_population": 10421,
"allele_count_reference_population": 52379,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.344748,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 52379,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 10421,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.906,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": "ENST00000306052.12",
"gene_symbol": "LRP8",
"hgnc_id": 6700,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.245-318T>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
}