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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: 3-142804713-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=142804713&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 142804713,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000476941.6",
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TRPC1",
"gene_hgnc_id": 12333,
"hgvs_c": "c.2154+83G>A",
"hgvs_p": null,
"transcript": "NM_001251845.2",
"protein_id": "NP_001238774.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 793,
"cds_start": -4,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4561,
"mane_select": "ENST00000476941.6",
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TRPC1",
"gene_hgnc_id": 12333,
"hgvs_c": "c.2154+83G>A",
"hgvs_p": null,
"transcript": "ENST00000476941.6",
"protein_id": "ENSP00000419313.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 793,
"cds_start": -4,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4561,
"mane_select": "NM_001251845.2",
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TRPC1",
"gene_hgnc_id": 12333,
"hgvs_c": "c.2052+83G>A",
"hgvs_p": null,
"transcript": "ENST00000273482.10",
"protein_id": "ENSP00000273482.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 759,
"cds_start": -4,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4324,
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TRPC1",
"gene_hgnc_id": 12333,
"hgvs_c": "c.2463+83G>A",
"hgvs_p": null,
"transcript": "ENST00000698238.1",
"protein_id": "ENSP00000513620.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 896,
"cds_start": -4,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4561,
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TRPC1",
"gene_hgnc_id": 12333,
"hgvs_c": "c.2052+83G>A",
"hgvs_p": null,
"transcript": "NM_003304.5",
"protein_id": "NP_003295.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 759,
"cds_start": -4,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4459,
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TRPC1",
"gene_hgnc_id": 12333,
"hgvs_c": "c.2004+83G>A",
"hgvs_p": null,
"transcript": "NM_001413361.1",
"protein_id": "NP_001400290.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 743,
"cds_start": -4,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6050,
"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": 10,
"intron_rank_end": null,
"gene_symbol": "TRPC1",
"gene_hgnc_id": 12333,
"hgvs_c": "c.1920+83G>A",
"hgvs_p": null,
"transcript": "NM_001413362.1",
"protein_id": "NP_001400291.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 715,
"cds_start": -4,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4327,
"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": 10,
"intron_rank_end": null,
"gene_symbol": "TRPC1",
"gene_hgnc_id": 12333,
"hgvs_c": "c.1908+83G>A",
"hgvs_p": null,
"transcript": "NM_001413363.1",
"protein_id": "NP_001400292.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 711,
"cds_start": -4,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4315,
"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": 10,
"intron_rank_end": null,
"gene_symbol": "TRPC1",
"gene_hgnc_id": 12333,
"hgvs_c": "c.1902+83G>A",
"hgvs_p": null,
"transcript": "NM_001413376.1",
"protein_id": "NP_001400305.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 709,
"cds_start": -4,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5948,
"mane_select": null,
"mane_plus": null,
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TRPC1",
"gene_hgnc_id": 12333,
"hgvs_c": "c.1860+83G>A",
"hgvs_p": null,
"transcript": "NM_001413375.1",
"protein_id": "NP_001400304.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 695,
"cds_start": -4,
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"cds_length": 2088,
"cdna_start": null,
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"cdna_length": 4406,
"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": 11,
"intron_rank": 10,
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"gene_symbol": "TRPC1",
"gene_hgnc_id": 12333,
"hgvs_c": "c.1758+83G>A",
"hgvs_p": null,
"transcript": "NM_001413377.1",
"protein_id": "NP_001400306.1",
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"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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],
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"gene_symbol": "TRPC1",
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"hgvs_c": "c.1716+83G>A",
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"transcript": "NM_001413378.1",
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},
{
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],
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"gene_symbol": "TRPC1",
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"hgvs_c": "c.1614+83G>A",
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"transcript": "NM_001413379.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "TRPC1",
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"hgvs_c": "c.1482+83G>A",
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},
{
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],
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"gene_symbol": "TRPC1",
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},
{
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],
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"exon_count": 8,
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"gene_symbol": "TRPC1",
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"hgvs_c": "c.1137+83G>A",
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},
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],
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"gene_symbol": "TRPC1",
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},
{
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],
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"gene_symbol": "TRPC1",
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"hgvs_c": "c.885+83G>A",
"hgvs_p": null,
"transcript": "NM_001413384.1",
"protein_id": "NP_001400313.1",
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},
{
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],
"exon_rank": null,
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},
{
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],
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 11,
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"gene_symbol": "TRPC1",
"gene_hgnc_id": 12333,
"hgvs_c": "c.1869+83G>A",
"hgvs_p": null,
"transcript": "XM_047448839.1",
"protein_id": "XP_047304795.1",
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"cds_start": -4,
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"feature": null
}
],
"gene_symbol": "TRPC1",
"gene_hgnc_id": 12333,
"dbsnp": "rs4259003",
"frequency_reference_population": 0.21278393,
"hom_count_reference_population": 37072,
"allele_count_reference_population": 283315,
"gnomad_exomes_af": 0.200149,
"gnomad_genomes_af": 0.310791,
"gnomad_exomes_ac": 236058,
"gnomad_genomes_ac": 47257,
"gnomad_exomes_homalt": 26751,
"gnomad_genomes_homalt": 10321,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"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": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.144,
"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": "ENST00000476941.6",
"gene_symbol": "TRPC1",
"hgnc_id": 12333,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2154+83G>A",
"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
}