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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: 9-122373210-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=122373210&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 122373210,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_000962.4",
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.94+1938T>C",
"hgvs_p": null,
"transcript": "NM_000962.4",
"protein_id": "NP_000953.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 599,
"cds_start": null,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5020,
"mane_select": "ENST00000362012.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000962.4"
},
{
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.94+1938T>C",
"hgvs_p": null,
"transcript": "ENST00000362012.7",
"protein_id": "ENSP00000354612.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 599,
"cds_start": null,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5020,
"mane_select": "NM_000962.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000362012.7"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.94+1938T>C",
"hgvs_p": null,
"transcript": "ENST00000223423.8",
"protein_id": "ENSP00000223423.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 562,
"cds_start": null,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2328,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000223423.8"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.94+1938T>C",
"hgvs_p": null,
"transcript": "ENST00000863393.1",
"protein_id": "ENSP00000533452.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 617,
"cds_start": null,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2651,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863393.1"
},
{
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.94+1938T>C",
"hgvs_p": null,
"transcript": "NM_080591.3",
"protein_id": "NP_542158.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 562,
"cds_start": null,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4909,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080591.3"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.94+1938T>C",
"hgvs_p": null,
"transcript": "NM_001271164.2",
"protein_id": "NP_001258093.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 551,
"cds_start": null,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4876,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271164.2"
},
{
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.94+1938T>C",
"hgvs_p": null,
"transcript": "ENST00000619306.5",
"protein_id": "ENSP00000483540.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 551,
"cds_start": null,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1766,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619306.5"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.19+1376T>C",
"hgvs_p": null,
"transcript": "NM_001271368.2",
"protein_id": "NP_001258297.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 537,
"cds_start": null,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5373,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271368.2"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.19+1376T>C",
"hgvs_p": null,
"transcript": "ENST00000540753.6",
"protein_id": "ENSP00000437709.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 537,
"cds_start": null,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2315,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540753.6"
},
{
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.94+1938T>C",
"hgvs_p": null,
"transcript": "ENST00000863392.1",
"protein_id": "ENSP00000533451.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 523,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 2421,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863392.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.94+1938T>C",
"hgvs_p": null,
"transcript": "ENST00000863390.1",
"protein_id": "ENSP00000533449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 514,
"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": "ENST00000863390.1"
},
{
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
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"gene_symbol": "PTGS1",
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"hgvs_c": "c.7+2119T>C",
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"transcript": "ENST00000863389.1",
"protein_id": "ENSP00000533448.1",
"transcript_support_level": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000863389.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.-234+1938T>C",
"hgvs_p": null,
"transcript": "NM_001271166.2",
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "NM_001271166.2"
},
{
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"protein_coding": true,
"strand": true,
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],
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"gene_symbol": "PTGS1",
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"hgvs_c": "c.-205+1938T>C",
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"transcript": "NM_001271367.2",
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"biotype": "protein_coding",
"feature": "NM_001271367.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.-234+1938T>C",
"hgvs_p": null,
"transcript": "ENST00000643810.1",
"protein_id": "ENSP00000494717.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000643810.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
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"gene_symbol": "PTGS1",
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"hgvs_c": "c.94+1938T>C",
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"transcript": "ENST00000863391.1",
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"feature": "ENST00000863391.1"
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 2,
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"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.94+1938T>C",
"hgvs_p": null,
"transcript": "ENST00000426608.6",
"protein_id": "ENSP00000411606.2",
"transcript_support_level": 5,
"aa_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000426608.6"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "n.188+1938T>C",
"hgvs_p": null,
"transcript": "ENST00000643576.1",
"protein_id": null,
"transcript_support_level": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "retained_intron",
"feature": "ENST00000643576.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "n.261+1938T>C",
"hgvs_p": null,
"transcript": "ENST00000645132.1",
"protein_id": null,
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"biotype": "retained_intron",
"feature": "ENST00000645132.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "n.94+1938T>C",
"hgvs_p": null,
"transcript": "ENST00000647067.1",
"protein_id": "ENSP00000495728.1",
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"cdna_start": null,
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"cdna_length": 2541,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000647067.1"
}
],
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"dbsnp": "rs10306122",
"frequency_reference_population": 0.07111327,
"hom_count_reference_population": 743,
"allele_count_reference_population": 10826,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0711133,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 10826,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 743,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"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": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.008,
"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": "NM_000962.4",
"gene_symbol": "PTGS1",
"hgnc_id": 9604,
"effects": [
"intron_variant"
],
"inheritance_mode": "SD,AD,AR",
"hgvs_c": "c.94+1938T>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
}