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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: 10-94988980-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=94988980&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 94988980,
"ref": "A",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_000771.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "c.1425A>T",
"hgvs_p": "p.Gly475Gly",
"transcript": "NM_000771.4",
"protein_id": "NP_000762.2",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 490,
"cds_start": 1425,
"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": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "c.1425A>T",
"hgvs_p": "p.Gly475Gly",
"transcript": "ENST00000260682.8",
"protein_id": "ENSP00000260682.6",
"transcript_support_level": 1,
"aa_start": 475,
"aa_end": null,
"aa_length": 490,
"cds_start": 1425,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "c.1446A>T",
"hgvs_p": "p.Gly482Gly",
"transcript": "ENST00000880948.1",
"protein_id": "ENSP00000551007.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 497,
"cds_start": 1446,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "c.1446A>T",
"hgvs_p": "p.Gly482Gly",
"transcript": "ENST00000880956.1",
"protein_id": "ENSP00000551015.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 497,
"cds_start": 1446,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "c.1422A>T",
"hgvs_p": "p.Gly474Gly",
"transcript": "ENST00000880960.1",
"protein_id": "ENSP00000551019.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 489,
"cds_start": 1422,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "c.1422A>T",
"hgvs_p": "p.Gly474Gly",
"transcript": "ENST00000880961.1",
"protein_id": "ENSP00000551020.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 489,
"cds_start": 1422,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "c.1419A>T",
"hgvs_p": "p.Gly473Gly",
"transcript": "ENST00000880950.1",
"protein_id": "ENSP00000551009.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 488,
"cds_start": 1419,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "c.1419A>T",
"hgvs_p": "p.Gly473Gly",
"transcript": "ENST00000880959.1",
"protein_id": "ENSP00000551018.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 488,
"cds_start": 1419,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "c.1416A>T",
"hgvs_p": "p.Gly472Gly",
"transcript": "ENST00000880952.1",
"protein_id": "ENSP00000551011.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 487,
"cds_start": 1416,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "c.1401A>T",
"hgvs_p": "p.Gly467Gly",
"transcript": "ENST00000880947.1",
"protein_id": "ENSP00000551006.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 482,
"cds_start": 1401,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "c.1398A>T",
"hgvs_p": "p.Gly466Gly",
"transcript": "ENST00000880958.1",
"protein_id": "ENSP00000551017.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 481,
"cds_start": 1398,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "c.1335A>T",
"hgvs_p": "p.Gly445Gly",
"transcript": "ENST00000880954.1",
"protein_id": "ENSP00000551013.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 460,
"cds_start": 1335,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "c.1296A>T",
"hgvs_p": "p.Gly432Gly",
"transcript": "ENST00000880955.1",
"protein_id": "ENSP00000551014.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 447,
"cds_start": 1296,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "c.1290A>T",
"hgvs_p": "p.Gly430Gly",
"transcript": "ENST00000880953.1",
"protein_id": "ENSP00000551012.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 445,
"cds_start": 1290,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "c.1275A>T",
"hgvs_p": "p.Gly425Gly",
"transcript": "ENST00000880946.1",
"protein_id": "ENSP00000551005.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 440,
"cds_start": 1275,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "c.1248A>T",
"hgvs_p": "p.Gly416Gly",
"transcript": "ENST00000880957.1",
"protein_id": "ENSP00000551016.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 431,
"cds_start": 1248,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "c.1095A>T",
"hgvs_p": "p.Gly365Gly",
"transcript": "ENST00000880951.1",
"protein_id": "ENSP00000551010.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 380,
"cds_start": 1095,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "c.945A>T",
"hgvs_p": "p.Gly315Gly",
"transcript": "ENST00000880949.1",
"protein_id": "ENSP00000551008.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 330,
"cds_start": 945,
"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": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "n.*434A>T",
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C9",
"gene_hgnc_id": 2623,
"hgvs_c": "n.*434A>T",
"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": "rs1057911",
"frequency_reference_population": 0.06346724,
"hom_count_reference_population": 3708,
"allele_count_reference_population": 102428,
"gnomad_exomes_af": 0.0649079,
"gnomad_genomes_af": 0.0496321,
"gnomad_exomes_ac": 94874,
"gnomad_genomes_ac": 7554,
"gnomad_exomes_homalt": 3463,
"gnomad_genomes_homalt": 245,
"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": -2.697,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_000771.4",
"gene_symbol": "CYP2C9",
"hgnc_id": 2623,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1425A>T",
"hgvs_p": "p.Gly475Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}