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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: 10-119584077-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=119584077&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 119584077,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000436547.7",
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "c.130-1520A>C",
"hgvs_p": null,
"transcript": "NM_003252.4",
"protein_id": "NP_003243.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": -4,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3827,
"mane_select": "ENST00000436547.7",
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "c.130-1520A>C",
"hgvs_p": null,
"transcript": "ENST00000436547.7",
"protein_id": "ENSP00000394902.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": -4,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3827,
"mane_select": "NM_003252.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "n.130-1520A>C",
"hgvs_p": null,
"transcript": "ENST00000497671.5",
"protein_id": "ENSP00000431009.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2321,
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "c.130-1469A>C",
"hgvs_p": null,
"transcript": "NM_001033925.2",
"protein_id": "NP_001029097.1",
"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,
"cdna_end": null,
"cdna_length": 3878,
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "c.130-1469A>C",
"hgvs_p": null,
"transcript": "ENST00000369093.6",
"protein_id": "ENSP00000358089.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 392,
"cds_start": -4,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5072,
"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": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "c.13-1469A>C",
"hgvs_p": null,
"transcript": "NM_001323968.2",
"protein_id": "NP_001310897.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 360,
"cds_start": -4,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3961,
"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": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "c.13-1469A>C",
"hgvs_p": null,
"transcript": "NM_001323970.2",
"protein_id": "NP_001310899.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": -4,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
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"cdna_length": 3940,
"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": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "c.13-1520A>C",
"hgvs_p": null,
"transcript": "NM_001323969.2",
"protein_id": "NP_001310898.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 336,
"cds_start": -4,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3889,
"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": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "c.-616-1520A>C",
"hgvs_p": null,
"transcript": "NM_001323964.2",
"protein_id": "NP_001310893.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": -4,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4203,
"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,
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"exon_count": 13,
"intron_rank": 2,
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"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "c.-359-1469A>C",
"hgvs_p": null,
"transcript": "NM_001323965.2",
"protein_id": "NP_001310894.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"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": 13,
"intron_rank": 2,
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"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "c.-308-1520A>C",
"hgvs_p": null,
"transcript": "NM_001323967.2",
"protein_id": "NP_001310896.1",
"transcript_support_level": null,
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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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"exon_count": 7,
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"gene_symbol": "TIAL1",
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"hgvs_c": "c.13-1520A>C",
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"transcript": "ENST00000412524.5",
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},
{
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],
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"gene_symbol": "TIAL1",
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"hgvs_c": "c.13-1520A>C",
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"transcript": "ENST00000369086.1",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "TIAL1",
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"hgvs_c": "n.183-1469A>C",
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"transcript": "ENST00000462373.1",
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},
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],
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},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "TIAL1",
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"hgvs_c": "n.629-1520A>C",
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},
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],
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},
{
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],
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"intron_rank": 2,
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"hgvs_c": "n.629-1469A>C",
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},
{
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"consequences": [
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],
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"exon_count": 12,
"intron_rank": 3,
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"gene_symbol": "TIAL1",
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"hgvs_c": "n.691-1520A>C",
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],
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},
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],
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"gene_symbol": "TIAL1",
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},
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"consequences": [
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],
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"gene_symbol": "TIAL1",
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"hgvs_c": "c.13-1469A>C",
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"transcript": "XM_047425699.1",
"protein_id": "XP_047281655.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "c.130-1469A>C",
"hgvs_p": null,
"transcript": "XM_047425701.1",
"protein_id": "XP_047281657.1",
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"cds_start": -4,
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},
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 11,
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"gene_symbol": "TIAL1",
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"hgvs_c": "n.629-1469A>C",
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"transcript": "XR_001747194.3",
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cds_length": null,
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"cdna_length": 1784,
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"feature": null
}
],
"gene_symbol": "TIAL1",
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"dbsnp": "rs10886515",
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"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": -0.7900000214576721,
"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": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.092,
"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": "ENST00000436547.7",
"gene_symbol": "TIAL1",
"hgnc_id": 11804,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.130-1520A>C",
"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
}