← Back to variant description
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: 20-37236651-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=37236651&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 37236651,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000237530.11",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.1825C>G",
"hgvs_p": "p.Leu609Val",
"transcript": "NM_002951.5",
"protein_id": "NP_002942.2",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 631,
"cds_start": 1825,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 1852,
"cdna_end": null,
"cdna_length": 2227,
"mane_select": "ENST00000237530.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.1825C>G",
"hgvs_p": "p.Leu609Val",
"transcript": "ENST00000237530.11",
"protein_id": "ENSP00000237530.6",
"transcript_support_level": 1,
"aa_start": 609,
"aa_end": null,
"aa_length": 631,
"cds_start": 1825,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 1852,
"cdna_end": null,
"cdna_length": 2227,
"mane_select": "NM_002951.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.1873C>G",
"hgvs_p": "p.Leu625Val",
"transcript": "NM_001324301.2",
"protein_id": "NP_001311230.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 663,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1900,
"cdna_end": null,
"cdna_length": 2323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.1825C>G",
"hgvs_p": "p.Leu609Val",
"transcript": "ENST00000705448.1",
"protein_id": "ENSP00000516126.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 654,
"cds_start": 1825,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 2763,
"cdna_end": null,
"cdna_length": 3166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.1825C>G",
"hgvs_p": "p.Leu609Val",
"transcript": "NM_001324304.2",
"protein_id": "NP_001311233.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 647,
"cds_start": 1825,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1852,
"cdna_end": null,
"cdna_length": 2275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.1873C>G",
"hgvs_p": "p.Leu625Val",
"transcript": "NM_001324305.2",
"protein_id": "NP_001311234.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 647,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1900,
"cdna_end": null,
"cdna_length": 2275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.1825C>G",
"hgvs_p": "p.Leu609Val",
"transcript": "NM_001324303.2",
"protein_id": "NP_001311232.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 638,
"cds_start": 1825,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1852,
"cdna_end": null,
"cdna_length": 2222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.1729C>G",
"hgvs_p": "p.Leu577Val",
"transcript": "NM_001135771.3",
"protein_id": "NP_001129243.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 615,
"cds_start": 1729,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1756,
"cdna_end": null,
"cdna_length": 2179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.1729C>G",
"hgvs_p": "p.Leu577Val",
"transcript": "NM_001324299.2",
"protein_id": "NP_001311228.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 615,
"cds_start": 1729,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1756,
"cdna_end": null,
"cdna_length": 2179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.1729C>G",
"hgvs_p": "p.Leu577Val",
"transcript": "ENST00000373622.9",
"protein_id": "ENSP00000362724.5",
"transcript_support_level": 2,
"aa_start": 577,
"aa_end": null,
"aa_length": 615,
"cds_start": 1729,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1925,
"cdna_end": null,
"cdna_length": 2348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.1729C>G",
"hgvs_p": "p.Leu577Val",
"transcript": "NM_001324302.2",
"protein_id": "NP_001311231.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 599,
"cds_start": 1729,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1756,
"cdna_end": null,
"cdna_length": 2131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.1354C>G",
"hgvs_p": "p.Leu452Val",
"transcript": "NM_001324306.2",
"protein_id": "NP_001311235.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 490,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 2003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.346C>G",
"hgvs_p": "p.Leu116Val",
"transcript": "ENST00000437329.5",
"protein_id": "ENSP00000409580.1",
"transcript_support_level": 3,
"aa_start": 116,
"aa_end": null,
"aa_length": 138,
"cds_start": 346,
"cds_end": null,
"cds_length": 417,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.1777C>G",
"hgvs_p": "p.Leu593Val",
"transcript": "XM_006723851.4",
"protein_id": "XP_006723914.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 631,
"cds_start": 1777,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 1804,
"cdna_end": null,
"cdna_length": 2227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.1777C>G",
"hgvs_p": "p.Leu593Val",
"transcript": "XM_006723852.4",
"protein_id": "XP_006723915.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 615,
"cds_start": 1777,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1804,
"cdna_end": null,
"cdna_length": 2179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "n.338C>G",
"hgvs_p": null,
"transcript": "ENST00000470352.1",
"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": 511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.325+2556C>G",
"hgvs_p": null,
"transcript": "ENST00000456400.1",
"protein_id": "ENSP00000399404.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 146,
"cds_start": -4,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"dbsnp": "rs4608",
"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": 0.28497427701950073,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.067,
"revel_prediction": "Benign",
"alphamissense_score": 0.1132,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.401,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000237530.11",
"gene_symbol": "RPN2",
"hgnc_id": 10382,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1825C>G",
"hgvs_p": "p.Leu609Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}