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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: 12-27350614-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=27350614&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 27350614,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000266503.10",
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.31+17511T>C",
"hgvs_p": null,
"transcript": "NM_020183.6",
"protein_id": "NP_064568.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 636,
"cds_start": -4,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6902,
"mane_select": "ENST00000266503.10",
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.31+17511T>C",
"hgvs_p": null,
"transcript": "ENST00000266503.10",
"protein_id": "ENSP00000266503.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 636,
"cds_start": -4,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6902,
"mane_select": "NM_020183.6",
"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": 1,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.31+17511T>C",
"hgvs_p": null,
"transcript": "ENST00000311001.9",
"protein_id": "ENSP00000312247.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 622,
"cds_start": -4,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1888,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.64+17478T>C",
"hgvs_p": null,
"transcript": "ENST00000395901.6",
"protein_id": "ENSP00000379238.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 599,
"cds_start": -4,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1954,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.31+17511T>C",
"hgvs_p": null,
"transcript": "ENST00000261178.9",
"protein_id": "ENSP00000261178.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 588,
"cds_start": -4,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1843,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.64+17478T>C",
"hgvs_p": null,
"transcript": "NM_001394524.1",
"protein_id": "NP_001381453.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 647,
"cds_start": -4,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6935,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.64+17478T>C",
"hgvs_p": null,
"transcript": "NM_001394525.1",
"protein_id": "NP_001381454.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 633,
"cds_start": -4,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6893,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.31+17511T>C",
"hgvs_p": null,
"transcript": "NM_001248002.3",
"protein_id": "NP_001234931.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 622,
"cds_start": -4,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6860,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.31+17511T>C",
"hgvs_p": null,
"transcript": "NM_001394526.1",
"protein_id": "NP_001381455.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 602,
"cds_start": -4,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.31+17511T>C",
"hgvs_p": null,
"transcript": "ENST00000544915.5",
"protein_id": "ENSP00000442438.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 602,
"cds_start": -4,
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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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.64+17478T>C",
"hgvs_p": null,
"transcript": "NM_001248003.3",
"protein_id": "NP_001234932.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "BMAL2",
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"hgvs_c": "c.31+17511T>C",
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"transcript": "NM_001248004.3",
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},
{
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"consequences": [
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],
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"intron_rank": 1,
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"gene_symbol": "BMAL2",
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"hgvs_c": "c.31+17511T>C",
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"transcript": "NM_001394527.1",
"protein_id": "NP_001381456.1",
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},
{
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"strand": true,
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],
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"intron_rank": 1,
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"gene_symbol": "BMAL2",
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"hgvs_c": "c.64+17478T>C",
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"transcript": "NM_001394528.1",
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},
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],
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"gene_symbol": "BMAL2",
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"transcript": "NM_001394529.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "BMAL2",
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"hgvs_c": "c.64+17478T>C",
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"transcript": "NM_001248005.3",
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},
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],
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"gene_symbol": "BMAL2",
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"hgvs_c": "c.64+17478T>C",
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"transcript": "ENST00000546179.5",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 1,
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"gene_symbol": "BMAL2",
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"hgvs_c": "c.64+17478T>C",
"hgvs_p": null,
"transcript": "XM_011520768.3",
"protein_id": "XP_011519070.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "BMAL2",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.64+17478T>C",
"hgvs_p": null,
"transcript": "XM_047429173.1",
"protein_id": "XP_047285129.1",
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"dbsnp": "rs11048980",
"frequency_reference_population": 0.06813168,
"hom_count_reference_population": 472,
"allele_count_reference_population": 10377,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0681317,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 10377,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 472,
"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",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.174,
"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": -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": "ENST00000266503.10",
"gene_symbol": "BMAL2",
"hgnc_id": 18984,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.31+17511T>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
}