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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: 2-102113847-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=102113847&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 102113847,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001320978.2",
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.-83-40094T>C",
"hgvs_p": null,
"transcript": "ENST00000409929.5",
"protein_id": "ENSP00000386776.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 538,
"cds_start": null,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1858,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409929.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.-122T>C",
"hgvs_p": null,
"transcript": "ENST00000853664.1",
"protein_id": "ENSP00000523723.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 569,
"cds_start": null,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2730,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853664.1"
},
{
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.-83-40094T>C",
"hgvs_p": null,
"transcript": "NM_001320978.2",
"protein_id": "NP_001307907.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 569,
"cds_start": null,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5052,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320978.2"
},
{
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.-84+8975T>C",
"hgvs_p": null,
"transcript": "NM_001320980.2",
"protein_id": "NP_001307909.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 569,
"cds_start": null,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5177,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320980.2"
},
{
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.-83-40094T>C",
"hgvs_p": null,
"transcript": "ENST00000853658.1",
"protein_id": "ENSP00000523717.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 569,
"cds_start": null,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5071,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853658.1"
},
{
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.-83-40094T>C",
"hgvs_p": null,
"transcript": "ENST00000853659.1",
"protein_id": "ENSP00000523718.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 569,
"cds_start": null,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5044,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853659.1"
},
{
"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": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.-84+12486T>C",
"hgvs_p": null,
"transcript": "ENST00000853660.1",
"protein_id": "ENSP00000523719.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 569,
"cds_start": null,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5133,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853660.1"
},
{
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.-84+8975T>C",
"hgvs_p": null,
"transcript": "ENST00000853661.1",
"protein_id": "ENSP00000523720.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 569,
"cds_start": null,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5518,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853661.1"
},
{
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.-81+8975T>C",
"hgvs_p": null,
"transcript": "ENST00000853662.1",
"protein_id": "ENSP00000523721.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 569,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000853662.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.-182+8975T>C",
"hgvs_p": null,
"transcript": "ENST00000853663.1",
"protein_id": "ENSP00000523722.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 569,
"cds_start": null,
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"cds_length": 1710,
"cdna_start": null,
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"cdna_length": 2564,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000853663.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 2,
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"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.-83-40094T>C",
"hgvs_p": null,
"transcript": "ENST00000959752.1",
"protein_id": "ENSP00000629811.1",
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"cds_start": null,
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},
{
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"intron_variant"
],
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"gene_symbol": "IL1R1",
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"hgvs_c": "c.-83-40094T>C",
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"transcript": "ENST00000959753.1",
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"feature": "ENST00000959753.1"
},
{
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"canonical": false,
"protein_coding": true,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
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"gene_symbol": "IL1R1",
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"hgvs_c": "c.-83-40094T>C",
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"transcript": "NM_001288706.2",
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},
{
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],
"exon_rank": null,
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},
{
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"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "IL1R1",
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"hgvs_c": "c.-84+8975T>C",
"hgvs_p": null,
"transcript": "ENST00000959754.1",
"protein_id": "ENSP00000629813.1",
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},
{
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],
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"intron_rank": 1,
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},
{
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 1,
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"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.-83-40094T>C",
"hgvs_p": null,
"transcript": "ENST00000424272.5",
"protein_id": "ENSP00000415366.1",
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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": "IL1R1",
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"hgvs_c": "c.-84+8975T>C",
"hgvs_p": null,
"transcript": "ENST00000409589.5",
"protein_id": "ENSP00000386555.1",
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},
{
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],
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"gene_symbol": "IL1R1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
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"gene_symbol": "IL1R1",
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"hgvs_c": "c.-83-40094T>C",
"hgvs_p": null,
"transcript": "ENST00000452403.5",
"protein_id": "ENSP00000401646.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.-84+12486T>C",
"hgvs_p": null,
"transcript": "XM_011511115.3",
"protein_id": "XP_011509417.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511115.3"
}
],
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"dbsnp": "rs887998",
"frequency_reference_population": 0.84259176,
"hom_count_reference_population": 54329,
"allele_count_reference_population": 128261,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.842592,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 128261,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 54329,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9800000190734863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.98,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.067,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "NM_001320978.2",
"gene_symbol": "IL1R1",
"hgnc_id": 5993,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-83-40094T>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
}