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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: 9-96651458-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=96651458&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 96651458,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_153698.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "PRXL2C",
"gene_hgnc_id": 16881,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Tyr118Cys",
"transcript": "NM_153698.2",
"protein_id": "NP_714542.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 226,
"cds_start": 353,
"cds_end": null,
"cds_length": 681,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": "ENST00000375234.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153698.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"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": "PRXL2C",
"gene_hgnc_id": 16881,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Tyr118Cys",
"transcript": "ENST00000375234.8",
"protein_id": "ENSP00000364382.3",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 226,
"cds_start": 353,
"cds_end": null,
"cds_length": 681,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": "NM_153698.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375234.8"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "PRXL2C",
"gene_hgnc_id": 16881,
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Tyr71Cys",
"transcript": "ENST00000446045.1",
"protein_id": "ENSP00000398933.1",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 179,
"cds_start": 212,
"cds_end": null,
"cds_length": 540,
"cdna_start": 213,
"cdna_end": null,
"cdna_length": 2723,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446045.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "PRXL2C",
"gene_hgnc_id": 16881,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Tyr118Cys",
"transcript": "ENST00000946150.1",
"protein_id": "ENSP00000616209.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 224,
"cds_start": 353,
"cds_end": null,
"cds_length": 675,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 1626,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946150.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "PRXL2C",
"gene_hgnc_id": 16881,
"hgvs_c": "c.299A>G",
"hgvs_p": "p.Tyr100Cys",
"transcript": "ENST00000875714.1",
"protein_id": "ENSP00000545773.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 208,
"cds_start": 299,
"cds_end": null,
"cds_length": 627,
"cdna_start": 332,
"cdna_end": null,
"cdna_length": 1227,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875714.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRXL2C",
"gene_hgnc_id": 16881,
"hgvs_c": "c.284A>G",
"hgvs_p": "p.Tyr95Cys",
"transcript": "ENST00000875713.1",
"protein_id": "ENSP00000545772.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 203,
"cds_start": 284,
"cds_end": null,
"cds_length": 612,
"cdna_start": 340,
"cdna_end": null,
"cdna_length": 1235,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875713.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "PRXL2C",
"gene_hgnc_id": 16881,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Tyr118Cys",
"transcript": "ENST00000946151.1",
"protein_id": "ENSP00000616210.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 196,
"cds_start": 353,
"cds_end": null,
"cds_length": 591,
"cdna_start": 391,
"cdna_end": null,
"cdna_length": 1136,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946151.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRXL2C",
"gene_hgnc_id": 16881,
"hgvs_c": "c.284A>G",
"hgvs_p": "p.Tyr95Cys",
"transcript": "ENST00000875712.1",
"protein_id": "ENSP00000545771.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 159,
"cds_start": 284,
"cds_end": null,
"cds_length": 480,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 1173,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875712.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRXL2C",
"gene_hgnc_id": 16881,
"hgvs_c": "c.134A>G",
"hgvs_p": "p.Tyr45Cys",
"transcript": "ENST00000411939.5",
"protein_id": "ENSP00000412378.1",
"transcript_support_level": 3,
"aa_start": 45,
"aa_end": null,
"aa_length": 109,
"cds_start": 134,
"cds_end": null,
"cds_length": 330,
"cdna_start": 136,
"cdna_end": null,
"cdna_length": 2514,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411939.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRXL2C",
"gene_hgnc_id": 16881,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Tyr118Cys",
"transcript": "XM_005251783.4",
"protein_id": "XP_005251840.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 182,
"cds_start": 353,
"cds_end": null,
"cds_length": 549,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 2767,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005251783.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "PRXL2C",
"gene_hgnc_id": 16881,
"hgvs_c": "c.191A>G",
"hgvs_p": "p.Tyr64Cys",
"transcript": "XM_005251784.5",
"protein_id": "XP_005251841.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 172,
"cds_start": 191,
"cds_end": null,
"cds_length": 519,
"cdna_start": 227,
"cdna_end": null,
"cdna_length": 2737,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005251784.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRXL2C",
"gene_hgnc_id": 16881,
"hgvs_c": "c.191A>G",
"hgvs_p": "p.Tyr64Cys",
"transcript": "XM_047422905.1",
"protein_id": "XP_047278861.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 128,
"cds_start": 191,
"cds_end": null,
"cds_length": 387,
"cdna_start": 227,
"cdna_end": null,
"cdna_length": 2605,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422905.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRXL2C",
"gene_hgnc_id": 16881,
"hgvs_c": "n.360A>G",
"hgvs_p": null,
"transcript": "ENST00000464512.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 463,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000464512.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000294376",
"gene_hgnc_id": null,
"hgvs_c": "n.237-12560T>C",
"hgvs_p": null,
"transcript": "ENST00000723223.1",
"protein_id": null,
"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": 571,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000723223.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000294376",
"gene_hgnc_id": null,
"hgvs_c": "n.447-6311T>C",
"hgvs_p": null,
"transcript": "ENST00000723224.1",
"protein_id": null,
"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": 646,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000723224.1"
}
],
"gene_symbol": "PRXL2C",
"gene_hgnc_id": 16881,
"dbsnp": "rs778246632",
"frequency_reference_population": 0.00001363979,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.00000958445,
"gnomad_genomes_af": 0.0000525527,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9259179830551147,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.716,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5724,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.892,
"phylop100way_prediction": "Uncertain_significance",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_153698.2",
"gene_symbol": "PRXL2C",
"hgnc_id": 16881,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Tyr118Cys"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000723223.1",
"gene_symbol": "ENSG00000294376",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.237-12560T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}