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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: 10-95045855-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=95045855&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 95045855,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000371270.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "c.916C>G",
"hgvs_p": "p.Leu306Val",
"transcript": "NM_000770.3",
"protein_id": "NP_000761.3",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 490,
"cds_start": 916,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 1924,
"mane_select": "ENST00000371270.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "c.916C>G",
"hgvs_p": "p.Leu306Val",
"transcript": "ENST00000371270.6",
"protein_id": "ENSP00000360317.3",
"transcript_support_level": 1,
"aa_start": 306,
"aa_end": null,
"aa_length": 490,
"cds_start": 916,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 1924,
"mane_select": "NM_000770.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Leu236Val",
"transcript": "NM_001198853.1",
"protein_id": "NP_001185782.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 420,
"cds_start": 706,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Leu236Val",
"transcript": "NM_001198855.1",
"protein_id": "NP_001185784.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 420,
"cds_start": 706,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 2024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Leu236Val",
"transcript": "ENST00000623108.3",
"protein_id": "ENSP00000485110.1",
"transcript_support_level": 2,
"aa_start": 236,
"aa_end": null,
"aa_length": 420,
"cds_start": 706,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "c.610C>G",
"hgvs_p": "p.Leu204Val",
"transcript": "NM_001198854.1",
"protein_id": "NP_001185783.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 388,
"cds_start": 610,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 886,
"cdna_end": null,
"cdna_length": 1799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "c.610C>G",
"hgvs_p": "p.Leu204Val",
"transcript": "ENST00000535898.5",
"protein_id": "ENSP00000445062.1",
"transcript_support_level": 2,
"aa_start": 204,
"aa_end": null,
"aa_length": 388,
"cds_start": 610,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 886,
"cdna_end": null,
"cdna_length": 1799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "c.658C>G",
"hgvs_p": "p.Leu220Val",
"transcript": "ENST00000628935.1",
"protein_id": "ENSP00000487145.1",
"transcript_support_level": 5,
"aa_start": 220,
"aa_end": null,
"aa_length": 307,
"cds_start": 658,
"cds_end": null,
"cds_length": 924,
"cdna_start": 658,
"cdna_end": null,
"cdna_length": 924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "n.1220C>G",
"hgvs_p": null,
"transcript": "ENST00000479946.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 1572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "n.*702C>G",
"hgvs_p": null,
"transcript": "ENST00000490994.6",
"protein_id": "ENSP00000433314.1",
"transcript_support_level": 2,
"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": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "n.*491C>G",
"hgvs_p": null,
"transcript": "ENST00000525991.5",
"protein_id": "ENSP00000433842.1",
"transcript_support_level": 2,
"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": 1587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "n.1171C>G",
"hgvs_p": null,
"transcript": "ENST00000526814.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 2078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "n.916C>G",
"hgvs_p": null,
"transcript": "ENST00000527420.5",
"protein_id": "ENSP00000433191.1",
"transcript_support_level": 2,
"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": 1868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "n.1171C>G",
"hgvs_p": null,
"transcript": "ENST00000527953.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 2117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "n.1150C>G",
"hgvs_p": null,
"transcript": "ENST00000533320.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "n.*702C>G",
"hgvs_p": null,
"transcript": "ENST00000490994.6",
"protein_id": "ENSP00000433314.1",
"transcript_support_level": 2,
"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": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "n.*491C>G",
"hgvs_p": null,
"transcript": "ENST00000525991.5",
"protein_id": "ENSP00000433842.1",
"transcript_support_level": 2,
"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": 1587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"dbsnp": "rs768402831",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5435570478439331,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.554,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2006,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": -0.394,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000371270.6",
"gene_symbol": "CYP2C8",
"hgnc_id": 2622,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.916C>G",
"hgvs_p": "p.Leu306Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}