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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: 3-128632052-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=128632052&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 128632052,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002950.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPN1",
"gene_hgnc_id": 10381,
"hgvs_c": "c.739A>C",
"hgvs_p": "p.Asn247His",
"transcript": "NM_002950.4",
"protein_id": "NP_002941.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 607,
"cds_start": 739,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000296255.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002950.4"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPN1",
"gene_hgnc_id": 10381,
"hgvs_c": "c.739A>C",
"hgvs_p": "p.Asn247His",
"transcript": "ENST00000296255.8",
"protein_id": "ENSP00000296255.3",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 607,
"cds_start": 739,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002950.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296255.8"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPN1",
"gene_hgnc_id": 10381,
"hgvs_c": "c.739A>C",
"hgvs_p": "p.Asn247His",
"transcript": "ENST00000874295.1",
"protein_id": "ENSP00000544354.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 621,
"cds_start": 739,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874295.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPN1",
"gene_hgnc_id": 10381,
"hgvs_c": "c.739A>C",
"hgvs_p": "p.Asn247His",
"transcript": "ENST00000916581.1",
"protein_id": "ENSP00000586640.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 606,
"cds_start": 739,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916581.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPN1",
"gene_hgnc_id": 10381,
"hgvs_c": "c.733A>C",
"hgvs_p": "p.Asn245His",
"transcript": "ENST00000916582.1",
"protein_id": "ENSP00000586641.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 604,
"cds_start": 733,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916582.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPN1",
"gene_hgnc_id": 10381,
"hgvs_c": "c.739A>C",
"hgvs_p": "p.Asn247His",
"transcript": "ENST00000916584.1",
"protein_id": "ENSP00000586643.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 602,
"cds_start": 739,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916584.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPN1",
"gene_hgnc_id": 10381,
"hgvs_c": "c.739A>C",
"hgvs_p": "p.Asn247His",
"transcript": "ENST00000916583.1",
"protein_id": "ENSP00000586642.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 596,
"cds_start": 739,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916583.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPN1",
"gene_hgnc_id": 10381,
"hgvs_c": "c.739A>C",
"hgvs_p": "p.Asn247His",
"transcript": "ENST00000874294.1",
"protein_id": "ENSP00000544353.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 567,
"cds_start": 739,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874294.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPN1",
"gene_hgnc_id": 10381,
"hgvs_c": "c.367A>C",
"hgvs_p": "p.Asn123His",
"transcript": "ENST00000874296.1",
"protein_id": "ENSP00000544355.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 483,
"cds_start": 367,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874296.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPN1",
"gene_hgnc_id": 10381,
"hgvs_c": "c.223A>C",
"hgvs_p": "p.Asn75His",
"transcript": "ENST00000497289.5",
"protein_id": "ENSP00000417529.1",
"transcript_support_level": 2,
"aa_start": 75,
"aa_end": null,
"aa_length": 435,
"cds_start": 223,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000497289.5"
},
{
"aa_ref": "N",
"aa_alt": "H",
"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": "RPN1",
"gene_hgnc_id": 10381,
"hgvs_c": "c.739A>C",
"hgvs_p": "p.Asn247His",
"transcript": "ENST00000874293.1",
"protein_id": "ENSP00000544352.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 423,
"cds_start": 739,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874293.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RPN1",
"gene_hgnc_id": 10381,
"hgvs_c": "c.634-1909A>C",
"hgvs_p": null,
"transcript": "ENST00000874292.1",
"protein_id": "ENSP00000544351.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 537,
"cds_start": null,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874292.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RPN1",
"gene_hgnc_id": 10381,
"hgvs_c": "c.718+21A>C",
"hgvs_p": null,
"transcript": "ENST00000955675.1",
"protein_id": "ENSP00000625734.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 501,
"cds_start": null,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955675.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPN1",
"gene_hgnc_id": 10381,
"hgvs_c": "n.*69A>C",
"hgvs_p": null,
"transcript": "ENST00000495462.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000495462.5"
}
],
"gene_symbol": "RPN1",
"gene_hgnc_id": 10381,
"dbsnp": "rs1281923715",
"frequency_reference_population": 0.0000065713384,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657134,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22942808270454407,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.109,
"revel_prediction": "Benign",
"alphamissense_score": 0.0656,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.797,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002950.4",
"gene_symbol": "RPN1",
"hgnc_id": 10381,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.739A>C",
"hgvs_p": "p.Asn247His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}