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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: 10-111004836-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=111004836&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 111004836,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000369452.9",
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.1161+42T>C",
"hgvs_p": null,
"transcript": "NM_007373.4",
"protein_id": "NP_031399.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 582,
"cds_start": -4,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3884,
"mane_select": "ENST00000369452.9",
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.1161+42T>C",
"hgvs_p": null,
"transcript": "ENST00000369452.9",
"protein_id": "ENSP00000358464.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 582,
"cds_start": -4,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3884,
"mane_select": "NM_007373.4",
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.1161+42T>C",
"hgvs_p": null,
"transcript": "NM_001324336.2",
"protein_id": "NP_001311265.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 582,
"cds_start": -4,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3902,
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.1161+42T>C",
"hgvs_p": null,
"transcript": "NM_001324337.2",
"protein_id": "NP_001311266.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 582,
"cds_start": -4,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4069,
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.1161+42T>C",
"hgvs_p": null,
"transcript": "NM_001441184.1",
"protein_id": "NP_001428113.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 582,
"cds_start": -4,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3982,
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.1161+42T>C",
"hgvs_p": null,
"transcript": "NM_001441185.1",
"protein_id": "NP_001428114.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 582,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 4167,
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.1161+42T>C",
"hgvs_p": null,
"transcript": "ENST00000685059.1",
"protein_id": "ENSP00000510210.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 582,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 6542,
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.1161+42T>C",
"hgvs_p": null,
"transcript": "ENST00000688928.1",
"protein_id": "ENSP00000509273.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 582,
"cds_start": -4,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5731,
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.1161+42T>C",
"hgvs_p": null,
"transcript": "ENST00000689118.1",
"protein_id": "ENSP00000510554.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 582,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5773,
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.1161+42T>C",
"hgvs_p": null,
"transcript": "ENST00000689300.1",
"protein_id": "ENSP00000510639.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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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": 10,
"intron_rank": 6,
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"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.1161+42T>C",
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"transcript": "ENST00000691369.1",
"protein_id": "ENSP00000509754.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "SHOC2",
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},
{
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],
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"gene_symbol": "SHOC2",
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"hgvs_c": "c.1023+42T>C",
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"transcript": "NM_001269039.3",
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},
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],
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"gene_symbol": "SHOC2",
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"hgvs_c": "c.1023+42T>C",
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"transcript": "NM_001441186.1",
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],
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},
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],
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"gene_symbol": "SHOC2",
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},
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],
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"transcript": "ENST00000691903.1",
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],
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"gene_symbol": "SHOC2",
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],
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"gene_symbol": "SHOC2",
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"transcript": "NM_001441191.1",
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},
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "SHOC2",
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}
],
"gene_symbol": "SHOC2",
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"dbsnp": "rs1980869",
"frequency_reference_population": 0.8229708,
"hom_count_reference_population": 463055,
"allele_count_reference_population": 1125085,
"gnomad_exomes_af": 0.822361,
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"gnomad_exomes_ac": 999103,
"gnomad_genomes_ac": 125982,
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"gnomad_genomes_homalt": 52240,
"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": -1.021,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000369452.9",
"gene_symbol": "SHOC2",
"hgnc_id": 15454,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1161+42T>C",
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}
],
"clinvar_disease": "Noonan syndrome-like disorder with loose anagen hair 1,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not specified|not provided|Noonan syndrome-like disorder with loose anagen hair 1",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}