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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: 15-32030404-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=32030404&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 32030404,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000636603.1",
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CHRNA7",
"gene_hgnc_id": 1960,
"hgvs_c": "c.-131-494G>C",
"hgvs_p": null,
"transcript": "ENST00000636603.1",
"protein_id": "ENSP00000490513.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 440,
"cds_start": -4,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2012,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "CHRNA7",
"gene_hgnc_id": 1960,
"hgvs_c": "c.-132+430G>C",
"hgvs_p": null,
"transcript": "ENST00000637033.1",
"protein_id": "ENSP00000490227.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 440,
"cds_start": -4,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3204,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "CHRNA7",
"gene_hgnc_id": 1960,
"hgvs_c": "c.-43+52210G>C",
"hgvs_p": null,
"transcript": "ENST00000637183.1",
"protein_id": "ENSP00000490365.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 423,
"cds_start": -4,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2912,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "CHRNA7",
"gene_hgnc_id": 1960,
"hgvs_c": "c.-132+430G>C",
"hgvs_p": null,
"transcript": "ENST00000635884.1",
"protein_id": "ENSP00000489834.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 318,
"cds_start": -4,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1975,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "CHRNA7",
"gene_hgnc_id": 1960,
"hgvs_c": "c.-378-494G>C",
"hgvs_p": null,
"transcript": "ENST00000638106.1",
"protein_id": "ENSP00000490413.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 220,
"cds_start": -4,
"cds_end": null,
"cds_length": 665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1139,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CHRNA7",
"gene_hgnc_id": 1960,
"hgvs_c": "c.-42-70899G>C",
"hgvs_p": null,
"transcript": "ENST00000635978.1",
"protein_id": "ENSP00000490778.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 209,
"cds_start": -4,
"cds_end": null,
"cds_length": 631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 903,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124903441",
"gene_hgnc_id": null,
"hgvs_c": "c.41-16C>G",
"hgvs_p": null,
"transcript": "XM_047433397.1",
"protein_id": "XP_047289353.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 214,
"cds_start": -4,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNA7",
"gene_hgnc_id": 1960,
"hgvs_c": "c.-191G>C",
"hgvs_p": null,
"transcript": "NM_000746.6",
"protein_id": "NP_000737.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 502,
"cds_start": -4,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6149,
"mane_select": "ENST00000306901.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNA7",
"gene_hgnc_id": 1960,
"hgvs_c": "c.-191G>C",
"hgvs_p": null,
"transcript": "ENST00000306901.9",
"protein_id": "ENSP00000303727.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 502,
"cds_start": -4,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6149,
"mane_select": "NM_000746.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNA7",
"gene_hgnc_id": 1960,
"hgvs_c": "n.-191G>C",
"hgvs_p": null,
"transcript": "ENST00000637786.2",
"protein_id": "ENSP00000490015.1",
"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,
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"cdna_length": 485,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNA7",
"gene_hgnc_id": 1960,
"hgvs_c": "c.-191G>C",
"hgvs_p": null,
"transcript": "NM_001190455.3",
"protein_id": "NP_001177384.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "CHRNA7",
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"transcript": "ENST00000454250.7",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"gene_symbol": "CHRNA7",
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"hgvs_c": "c.-191G>C",
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"transcript": "ENST00000675428.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"gene_symbol": "CHRNA7",
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"hgvs_c": "c.-191G>C",
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},
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],
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": null,
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"gene_symbol": "CHRNA7",
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},
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],
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},
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],
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"gene_symbol": "CHRNA7",
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"transcript": "ENST00000636295.1",
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},
{
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],
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "CHRNA7",
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},
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],
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},
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],
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},
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],
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"intron_rank": null,
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"gene_symbol": "CHRNA7",
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"protein_id": "ENSP00000489919.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNA7",
"gene_hgnc_id": 1960,
"hgvs_c": "n.-191G>C",
"hgvs_p": null,
"transcript": "ENST00000638031.1",
"protein_id": "ENSP00000490526.1",
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},
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"strand": true,
"consequences": [
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"transcript": "NR_046324.1",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
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"upstream_gene_variant"
],
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"gene_symbol": "CHRNA7",
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"hgvs_c": "c.-191G>C",
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"transcript": "XM_011521178.4",
"protein_id": "XP_011519480.1",
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}
],
"gene_symbol": "CHRNA7",
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"dbsnp": "rs553179500",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000141425,
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"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8299999833106995,
"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": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.284,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000636603.1",
"gene_symbol": "CHRNA7",
"hgnc_id": 1960,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.-131-494G>C",
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},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XM_047433397.1",
"gene_symbol": "LOC124903441",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.41-16C>G",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}