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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: 15-70944020-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=70944020&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 70944020,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000260382.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "LRRC49",
"gene_hgnc_id": 25965,
"hgvs_c": "c.773+7198T>A",
"hgvs_p": null,
"transcript": "NM_017691.5",
"protein_id": "NP_060161.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 686,
"cds_start": -4,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6176,
"mane_select": "ENST00000260382.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "LRRC49",
"gene_hgnc_id": 25965,
"hgvs_c": "c.773+7198T>A",
"hgvs_p": null,
"transcript": "ENST00000260382.10",
"protein_id": "ENSP00000260382.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 686,
"cds_start": -4,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6176,
"mane_select": "NM_017691.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "LRRC49",
"gene_hgnc_id": 25965,
"hgvs_c": "c.788+7198T>A",
"hgvs_p": null,
"transcript": "NM_001199017.3",
"protein_id": "NP_001185946.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 691,
"cds_start": -4,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "LRRC49",
"gene_hgnc_id": 25965,
"hgvs_c": "c.788+7198T>A",
"hgvs_p": null,
"transcript": "ENST00000560369.5",
"protein_id": "ENSP00000453273.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 691,
"cds_start": -4,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LRRC49",
"gene_hgnc_id": 25965,
"hgvs_c": "c.743+7198T>A",
"hgvs_p": null,
"transcript": "NM_001284357.2",
"protein_id": "NP_001271286.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 676,
"cds_start": -4,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LRRC49",
"gene_hgnc_id": 25965,
"hgvs_c": "c.743+7198T>A",
"hgvs_p": null,
"transcript": "ENST00000544974.6",
"protein_id": "ENSP00000439600.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 676,
"cds_start": -4,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LRRC49",
"gene_hgnc_id": 25965,
"hgvs_c": "c.641+7198T>A",
"hgvs_p": null,
"transcript": "NM_001199018.3",
"protein_id": "NP_001185947.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 642,
"cds_start": -4,
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"cds_length": 1929,
"cdna_start": null,
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"cdna_length": 6265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LRRC49",
"gene_hgnc_id": 25965,
"hgvs_c": "c.641+7198T>A",
"hgvs_p": null,
"transcript": "ENST00000443425.6",
"protein_id": "ENSP00000414065.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 642,
"cds_start": -4,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "LRRC49",
"gene_hgnc_id": 25965,
"hgvs_c": "c.-110+7198T>A",
"hgvs_p": null,
"transcript": "NM_001363732.2",
"protein_id": "NP_001350661.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 392,
"cds_start": -4,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
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"cdna_length": 6171,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 10,
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"gene_symbol": "LRRC49",
"gene_hgnc_id": 25965,
"hgvs_c": "c.-110+7198T>A",
"hgvs_p": null,
"transcript": "ENST00000560691.5",
"protein_id": "ENSP00000454170.1",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 1,
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"gene_symbol": "LRRC49",
"gene_hgnc_id": 25965,
"hgvs_c": "c.-16+7198T>A",
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"transcript": "ENST00000560158.6",
"protein_id": "ENSP00000452775.1",
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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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},
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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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],
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},
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],
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"gene_symbol": "LRRC49",
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"transcript": "ENST00000561081.5",
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},
{
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"protein_coding": false,
"strand": true,
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"intron_variant"
],
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"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LRRC49",
"gene_hgnc_id": 25965,
"hgvs_c": "n.467+7198T>A",
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}
],
"gene_symbol": "LRRC49",
"gene_hgnc_id": 25965,
"dbsnp": "rs2119538",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9900000095367432,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.99,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.082,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000260382.10",
"gene_symbol": "LRRC49",
"hgnc_id": 25965,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.773+7198T>A",
"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
}