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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: 1-53037610-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=53037610&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 53037610,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000371514.8",
"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": 13,
"intron_rank_end": null,
"gene_symbol": "SCP2",
"gene_hgnc_id": 10606,
"hgvs_c": "c.1339-1307C>T",
"hgvs_p": null,
"transcript": "NM_002979.5",
"protein_id": "NP_002970.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 547,
"cds_start": -4,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2759,
"mane_select": "ENST00000371514.8",
"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": 13,
"intron_rank_end": null,
"gene_symbol": "SCP2",
"gene_hgnc_id": 10606,
"hgvs_c": "c.1339-1307C>T",
"hgvs_p": null,
"transcript": "ENST00000371514.8",
"protein_id": "ENSP00000360569.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 547,
"cds_start": -4,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2759,
"mane_select": "NM_002979.5",
"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": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SCP2",
"gene_hgnc_id": 10606,
"hgvs_c": "c.1207-1307C>T",
"hgvs_p": null,
"transcript": "ENST00000371509.8",
"protein_id": "ENSP00000360564.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 503,
"cds_start": -4,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1889,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SCP2",
"gene_hgnc_id": 10606,
"hgvs_c": "c.127-1307C>T",
"hgvs_p": null,
"transcript": "ENST00000435345.6",
"protein_id": "ENSP00000396413.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 143,
"cds_start": -4,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 894,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SCP2",
"gene_hgnc_id": 10606,
"hgvs_c": "c.126+9539C>T",
"hgvs_p": null,
"transcript": "ENST00000488965.1",
"protein_id": "ENSP00000435783.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 59,
"cds_start": -4,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3926,
"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": 12,
"intron_rank_end": null,
"gene_symbol": "SCP2",
"gene_hgnc_id": 10606,
"hgvs_c": "c.1267-1307C>T",
"hgvs_p": null,
"transcript": "NM_001193599.2",
"protein_id": "NP_001180528.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 523,
"cds_start": -4,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2687,
"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": 12,
"intron_rank_end": null,
"gene_symbol": "SCP2",
"gene_hgnc_id": 10606,
"hgvs_c": "c.1267-1307C>T",
"hgvs_p": null,
"transcript": "ENST00000407246.6",
"protein_id": "ENSP00000384569.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 523,
"cds_start": -4,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2239,
"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": 12,
"intron_rank_end": null,
"gene_symbol": "SCP2",
"gene_hgnc_id": 10606,
"hgvs_c": "c.1207-1307C>T",
"hgvs_p": null,
"transcript": "NM_001193600.2",
"protein_id": "NP_001180529.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 503,
"cds_start": -4,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2627,
"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": 12,
"intron_rank_end": null,
"gene_symbol": "SCP2",
"gene_hgnc_id": 10606,
"hgvs_c": "c.1096-1307C>T",
"hgvs_p": null,
"transcript": "NM_001193617.2",
"protein_id": "NP_001180546.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 466,
"cds_start": -4,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2701,
"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": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SCP2",
"gene_hgnc_id": 10606,
"hgvs_c": "c.1096-1307C>T",
"hgvs_p": null,
"transcript": "ENST00000528311.5",
"protein_id": "ENSP00000434132.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 466,
"cds_start": -4,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1896,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SCP2",
"gene_hgnc_id": 10606,
"hgvs_c": "c.127-1307C>T",
"hgvs_p": null,
"transcript": "NM_001007099.3",
"protein_id": "NP_001007100.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 143,
"cds_start": -4,
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"cds_length": 432,
"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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SCP2",
"gene_hgnc_id": 10606,
"hgvs_c": "c.118-1307C>T",
"hgvs_p": null,
"transcript": "NM_001007100.3",
"protein_id": "NP_001007101.1",
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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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SCP2",
"gene_hgnc_id": 10606,
"hgvs_c": "c.118-1307C>T",
"hgvs_p": null,
"transcript": "ENST00000430330.6",
"protein_id": "ENSP00000406636.2",
"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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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
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"gene_symbol": "SCP2",
"gene_hgnc_id": 10606,
"hgvs_c": "c.181-1307C>T",
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"transcript": "ENST00000478274.6",
"protein_id": "ENSP00000437317.1",
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},
{
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"strand": true,
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"intron_variant"
],
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"gene_symbol": "SCP2",
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"hgvs_c": "c.180+9539C>T",
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"transcript": "ENST00000484100.5",
"protein_id": "ENSP00000432645.1",
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"feature": null
},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "SCP2",
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"hgvs_c": "c.126+9539C>T",
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"transcript": "NM_001007250.3",
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},
{
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],
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"gene_symbol": "SCP2",
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"hgvs_c": "c.126+9539C>T",
"hgvs_p": null,
"transcript": "ENST00000408941.7",
"protein_id": "ENSP00000386214.3",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 14,
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"gene_symbol": "SCP2",
"gene_hgnc_id": 10606,
"hgvs_c": "n.*2981-1307C>T",
"hgvs_p": null,
"transcript": "ENST00000478631.6",
"protein_id": "ENSP00000435194.1",
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},
{
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"protein_coding": false,
"strand": true,
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "SCP2",
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"hgvs_c": "n.78-1307C>T",
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"transcript": "ENST00000533119.1",
"protein_id": "ENSP00000436581.1",
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},
{
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],
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"gene_symbol": "SCP2",
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"hgvs_c": "c.1338+9539C>T",
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"transcript": "XM_005271103.5",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "SCP2",
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"hgvs_c": "c.1338+9539C>T",
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"transcript": "XM_047427504.1",
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"feature": null
}
],
"gene_symbol": "SCP2",
"gene_hgnc_id": 10606,
"dbsnp": "rs12747412",
"frequency_reference_population": 0.27049074,
"hom_count_reference_population": 7289,
"allele_count_reference_population": 41021,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.270491,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 41021,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 7289,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"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": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.498,
"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": "ENST00000371514.8",
"gene_symbol": "SCP2",
"hgnc_id": 10606,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1339-1307C>T",
"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
}