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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: 10-94981296-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=94981296&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 94981296,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000771.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "c.1075A>C",
"hgvs_p": "p.Ile359Leu",
"transcript": "NM_000771.4",
"protein_id": "NP_000762.2",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 490,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000260682.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000771.4"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "c.1075A>C",
"hgvs_p": "p.Ile359Leu",
"transcript": "ENST00000260682.8",
"protein_id": "ENSP00000260682.6",
"transcript_support_level": 1,
"aa_start": 359,
"aa_end": null,
"aa_length": 490,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000771.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260682.8"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "c.1096A>C",
"hgvs_p": "p.Ile366Leu",
"transcript": "ENST00000880948.1",
"protein_id": "ENSP00000551007.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 497,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880948.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "c.1096A>C",
"hgvs_p": "p.Ile366Leu",
"transcript": "ENST00000880956.1",
"protein_id": "ENSP00000551015.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 497,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880956.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "c.1072A>C",
"hgvs_p": "p.Ile358Leu",
"transcript": "ENST00000880960.1",
"protein_id": "ENSP00000551019.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 489,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880960.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "c.1072A>C",
"hgvs_p": "p.Ile358Leu",
"transcript": "ENST00000880961.1",
"protein_id": "ENSP00000551020.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 489,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880961.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "c.1069A>C",
"hgvs_p": "p.Ile357Leu",
"transcript": "ENST00000880950.1",
"protein_id": "ENSP00000551009.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 488,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880950.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "c.1069A>C",
"hgvs_p": "p.Ile357Leu",
"transcript": "ENST00000880959.1",
"protein_id": "ENSP00000551018.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 488,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880959.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "c.1066A>C",
"hgvs_p": "p.Ile356Leu",
"transcript": "ENST00000880952.1",
"protein_id": "ENSP00000551011.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 487,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880952.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "c.1051A>C",
"hgvs_p": "p.Ile351Leu",
"transcript": "ENST00000880947.1",
"protein_id": "ENSP00000551006.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 482,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880947.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "c.1075A>C",
"hgvs_p": "p.Ile359Leu",
"transcript": "ENST00000880958.1",
"protein_id": "ENSP00000551017.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 481,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880958.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "c.985A>C",
"hgvs_p": "p.Ile329Leu",
"transcript": "ENST00000880954.1",
"protein_id": "ENSP00000551013.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 460,
"cds_start": 985,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880954.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "c.946A>C",
"hgvs_p": "p.Ile316Leu",
"transcript": "ENST00000880955.1",
"protein_id": "ENSP00000551014.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 447,
"cds_start": 946,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880955.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "c.940A>C",
"hgvs_p": "p.Ile314Leu",
"transcript": "ENST00000880953.1",
"protein_id": "ENSP00000551012.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 445,
"cds_start": 940,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880953.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "c.925A>C",
"hgvs_p": "p.Ile309Leu",
"transcript": "ENST00000880946.1",
"protein_id": "ENSP00000551005.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 440,
"cds_start": 925,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880946.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "c.898A>C",
"hgvs_p": "p.Ile300Leu",
"transcript": "ENST00000880957.1",
"protein_id": "ENSP00000551016.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 431,
"cds_start": 898,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880957.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "c.595A>C",
"hgvs_p": "p.Ile199Leu",
"transcript": "ENST00000880949.1",
"protein_id": "ENSP00000551008.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 330,
"cds_start": 595,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880949.1"
},
{
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "c.820-4737A>C",
"hgvs_p": null,
"transcript": "ENST00000880951.1",
"protein_id": "ENSP00000551010.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 380,
"cds_start": null,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880951.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "n.*84A>C",
"hgvs_p": null,
"transcript": "ENST00000643112.1",
"protein_id": "ENSP00000496202.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000643112.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "n.*84A>C",
"hgvs_p": null,
"transcript": "ENST00000643112.1",
"protein_id": "ENSP00000496202.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000643112.1"
}
],
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"dbsnp": "rs1057910",
"frequency_reference_population": 0.063408285,
"hom_count_reference_population": 3705,
"allele_count_reference_population": 102334,
"gnomad_exomes_af": 0.0648705,
"gnomad_genomes_af": 0.0493694,
"gnomad_exomes_ac": 94818,
"gnomad_genomes_ac": 7516,
"gnomad_exomes_homalt": 3461,
"gnomad_genomes_homalt": 244,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.002308577299118042,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.07,
"revel_prediction": "Benign",
"alphamissense_score": 0.1487,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.278,
"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_000771.4",
"gene_symbol": "CYP2C9",
"hgnc_id": 2623,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1075A>C",
"hgvs_p": "p.Ile359Leu"
}
],
"clinvar_disease": "Flurbiprofen response,Glipizide response,Lesinurad response,Phenytoin response,Piroxicam response,Tolbutamide response,Warfarin response,not provided",
"clinvar_classification": " other,drug response",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "O:4",
"phenotype_combined": "not provided|Tolbutamide response|Warfarin response|Phenytoin response|Glipizide response|Lesinurad response|Flurbiprofen response|Piroxicam response",
"pathogenicity_classification_combined": "drug response; other",
"custom_annotations": null
}
],
"message": null
}