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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: 2-33316635-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=33316635&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 33316635,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000404816.7",
"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": 34,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.3730+1366A>C",
"hgvs_p": null,
"transcript": "NM_206943.4",
"protein_id": "NP_996826.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1721,
"cds_start": -4,
"cds_end": null,
"cds_length": 5166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6502,
"mane_select": "ENST00000404816.7",
"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": 34,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.3730+1366A>C",
"hgvs_p": null,
"transcript": "ENST00000404816.7",
"protein_id": "ENSP00000386043.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1721,
"cds_start": -4,
"cds_end": null,
"cds_length": 5166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6502,
"mane_select": "NM_206943.4",
"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": 30,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.2752+1366A>C",
"hgvs_p": null,
"transcript": "ENST00000407925.5",
"protein_id": "ENSP00000384091.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1395,
"cds_start": -4,
"cds_end": null,
"cds_length": 4188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5087,
"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": 29,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.2752+1366A>C",
"hgvs_p": null,
"transcript": "ENST00000418533.6",
"protein_id": "ENSP00000393057.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1353,
"cds_start": -4,
"cds_end": null,
"cds_length": 4062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5164,
"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": 30,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.2593+1366A>C",
"hgvs_p": null,
"transcript": "ENST00000404525.5",
"protein_id": "ENSP00000385359.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1342,
"cds_start": -4,
"cds_end": null,
"cds_length": 4029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5092,
"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": 34,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.3571+1366A>C",
"hgvs_p": null,
"transcript": "NM_001394905.1",
"protein_id": "NP_001381834.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1668,
"cds_start": -4,
"cds_end": null,
"cds_length": 5007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6343,
"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": 30,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.2752+1366A>C",
"hgvs_p": null,
"transcript": "NM_000627.4",
"protein_id": "NP_000618.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1395,
"cds_start": -4,
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"cds_length": 4188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5294,
"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": 30,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.2749+1366A>C",
"hgvs_p": null,
"transcript": "NM_001394906.1",
"protein_id": "NP_001381835.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1394,
"cds_start": -4,
"cds_end": null,
"cds_length": 4185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5291,
"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": 30,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.2665+1366A>C",
"hgvs_p": null,
"transcript": "NM_001394907.1",
"protein_id": "NP_001381836.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1366,
"cds_start": -4,
"cds_end": null,
"cds_length": 4101,
"cdna_start": null,
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"cdna_length": 5207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"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": 29,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.2632+1366A>C",
"hgvs_p": null,
"transcript": "NM_001394908.1",
"protein_id": "NP_001381837.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"mane_select": 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": 29,
"intron_rank": 20,
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"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.2752+1366A>C",
"hgvs_p": null,
"transcript": "NM_001166264.2",
"protein_id": "NP_001159736.2",
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"feature": null
},
{
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"consequences": [
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],
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"gene_symbol": "LTBP1",
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"hgvs_c": "c.2626+1366A>C",
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},
{
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"strand": true,
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],
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"gene_symbol": "LTBP1",
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"hgvs_c": "c.2749+1366A>C",
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"transcript": "NM_001394910.1",
"protein_id": "NP_001381839.1",
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},
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],
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"gene_symbol": "LTBP1",
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"hgvs_c": "c.2623+1366A>C",
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],
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"hgvs_c": "c.2752+1366A>C",
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},
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],
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"gene_symbol": "LTBP1",
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"gene_symbol": "LTBP1",
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],
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"gene_symbol": "LTBP1",
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"hgvs_c": "c.2593+1366A>C",
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"transcript": "ENST00000402934.5",
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},
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],
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"gene_symbol": "LTBP1",
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"hgvs_c": "c.2626+1366A>C",
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"transcript": "NM_001394917.1",
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},
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],
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"intron_rank": 20,
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"gene_symbol": "LTBP1",
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"hgvs_c": "c.2752+1366A>C",
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},
{
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},
{
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}
],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.800000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.348,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000404816.7",
"gene_symbol": "LTBP1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
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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
}