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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: 7-117591798-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=117591798&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 117591798,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000003084.11",
"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": 27,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "c.1767-136T>C",
"hgvs_p": null,
"transcript": "NM_000492.4",
"protein_id": "NP_000483.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1480,
"cds_start": -4,
"cds_end": null,
"cds_length": 4443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6070,
"mane_select": "ENST00000003084.11",
"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": 27,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "c.1767-136T>C",
"hgvs_p": null,
"transcript": "ENST00000003084.11",
"protein_id": "ENSP00000003084.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1480,
"cds_start": -4,
"cds_end": null,
"cds_length": 4443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6070,
"mane_select": "NM_000492.4",
"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": 27,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "c.1767-136T>C",
"hgvs_p": null,
"transcript": "ENST00000699602.1",
"protein_id": "ENSP00000514471.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1478,
"cds_start": -4,
"cds_end": null,
"cds_length": 4437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6024,
"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": 26,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "c.1677-136T>C",
"hgvs_p": null,
"transcript": "ENST00000426809.5",
"protein_id": "ENSP00000389119.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1437,
"cds_start": -4,
"cds_end": null,
"cds_length": 4316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4316,
"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": 26,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "c.1584-136T>C",
"hgvs_p": null,
"transcript": "ENST00000649781.2",
"protein_id": "ENSP00000497203.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1419,
"cds_start": -4,
"cds_end": null,
"cds_length": 4260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5824,
"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": 27,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "c.1341-136T>C",
"hgvs_p": null,
"transcript": "ENST00000699605.1",
"protein_id": "ENSP00000514473.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1338,
"cds_start": -4,
"cds_end": null,
"cds_length": 4017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5919,
"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": 21,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "c.1584-136T>C",
"hgvs_p": null,
"transcript": "ENST00000649406.1",
"protein_id": "ENSP00000497965.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1187,
"cds_start": -4,
"cds_end": null,
"cds_length": 3564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3758,
"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": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "c.1402-11028T>C",
"hgvs_p": null,
"transcript": "ENST00000648260.1",
"protein_id": "ENSP00000497957.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 842,
"cds_start": -4,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "n.1767-136T>C",
"hgvs_p": null,
"transcript": "ENST00000647720.2",
"protein_id": "ENSP00000497673.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "n.*1481-136T>C",
"hgvs_p": null,
"transcript": "ENST00000647978.2",
"protein_id": "ENSP00000497658.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "n.1767-136T>C",
"hgvs_p": null,
"transcript": "ENST00000685018.2",
"protein_id": "ENSP00000510194.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "n.1767-136T>C",
"hgvs_p": null,
"transcript": "ENST00000687278.2",
"protein_id": "ENSP00000509593.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "n.1767-136T>C",
"hgvs_p": null,
"transcript": "ENST00000699585.1",
"protein_id": "ENSP00000514456.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "n.1767-136T>C",
"hgvs_p": null,
"transcript": "ENST00000699598.1",
"protein_id": "ENSP00000514467.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "n.1767-136T>C",
"hgvs_p": null,
"transcript": "ENST00000699599.1",
"protein_id": "ENSP00000514468.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "n.1767-136T>C",
"hgvs_p": null,
"transcript": "ENST00000699600.1",
"protein_id": "ENSP00000514469.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "n.*67-136T>C",
"hgvs_p": null,
"transcript": "ENST00000699601.1",
"protein_id": "ENSP00000514470.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "n.*1591-136T>C",
"hgvs_p": null,
"transcript": "ENST00000699604.1",
"protein_id": "ENSP00000514472.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"dbsnp": "rs11978434",
"frequency_reference_population": 0.2133362,
"hom_count_reference_population": 14909,
"allele_count_reference_population": 121905,
"gnomad_exomes_af": 0.217262,
"gnomad_genomes_af": 0.202511,
"gnomad_exomes_ac": 91110,
"gnomad_genomes_ac": 30795,
"gnomad_exomes_homalt": 11346,
"gnomad_genomes_homalt": 3563,
"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": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.167,
"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": "ENST00000003084.11",
"gene_symbol": "CFTR",
"hgnc_id": 1884,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1767-136T>C",
"hgvs_p": null
}
],
"clinvar_disease": "CFTR-related disorder,Cystic fibrosis,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:2",
"phenotype_combined": "Cystic fibrosis|not provided|CFTR-related disorder|not specified",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}