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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: 5-159158885-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=159158885&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 159158885,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001199380.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF145",
"gene_hgnc_id": 20853,
"hgvs_c": "c.1777C>G",
"hgvs_p": "p.Leu593Val",
"transcript": "NM_001199383.2",
"protein_id": "NP_001186312.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 663,
"cds_start": 1777,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000424310.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199383.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF145",
"gene_hgnc_id": 20853,
"hgvs_c": "c.1777C>G",
"hgvs_p": "p.Leu593Val",
"transcript": "ENST00000424310.7",
"protein_id": "ENSP00000409064.2",
"transcript_support_level": 1,
"aa_start": 593,
"aa_end": null,
"aa_length": 663,
"cds_start": 1777,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001199383.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424310.7"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF145",
"gene_hgnc_id": 20853,
"hgvs_c": "c.1867C>G",
"hgvs_p": "p.Leu623Val",
"transcript": "ENST00000518802.5",
"protein_id": "ENSP00000430955.1",
"transcript_support_level": 1,
"aa_start": 623,
"aa_end": null,
"aa_length": 693,
"cds_start": 1867,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518802.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF145",
"gene_hgnc_id": 20853,
"hgvs_c": "c.1867C>G",
"hgvs_p": "p.Leu623Val",
"transcript": "NM_001199380.2",
"protein_id": "NP_001186309.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 693,
"cds_start": 1867,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199380.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF145",
"gene_hgnc_id": 20853,
"hgvs_c": "c.1861C>G",
"hgvs_p": "p.Leu621Val",
"transcript": "NM_144726.3",
"protein_id": "NP_653327.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 691,
"cds_start": 1861,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144726.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF145",
"gene_hgnc_id": 20853,
"hgvs_c": "c.1861C>G",
"hgvs_p": "p.Leu621Val",
"transcript": "ENST00000274542.6",
"protein_id": "ENSP00000274542.2",
"transcript_support_level": 2,
"aa_start": 621,
"aa_end": null,
"aa_length": 691,
"cds_start": 1861,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000274542.6"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF145",
"gene_hgnc_id": 20853,
"hgvs_c": "c.1828C>G",
"hgvs_p": "p.Leu610Val",
"transcript": "NM_001199381.2",
"protein_id": "NP_001186310.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 680,
"cds_start": 1828,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199381.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF145",
"gene_hgnc_id": 20853,
"hgvs_c": "c.1828C>G",
"hgvs_p": "p.Leu610Val",
"transcript": "ENST00000521606.6",
"protein_id": "ENSP00000430753.2",
"transcript_support_level": 2,
"aa_start": 610,
"aa_end": null,
"aa_length": 680,
"cds_start": 1828,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521606.6"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF145",
"gene_hgnc_id": 20853,
"hgvs_c": "c.1819C>G",
"hgvs_p": "p.Leu607Val",
"transcript": "NM_001199382.2",
"protein_id": "NP_001186311.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 677,
"cds_start": 1819,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199382.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF145",
"gene_hgnc_id": 20853,
"hgvs_c": "c.1819C>G",
"hgvs_p": "p.Leu607Val",
"transcript": "ENST00000520638.1",
"protein_id": "ENSP00000429071.1",
"transcript_support_level": 2,
"aa_start": 607,
"aa_end": null,
"aa_length": 677,
"cds_start": 1819,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520638.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF145",
"gene_hgnc_id": 20853,
"hgvs_c": "c.1777C>G",
"hgvs_p": "p.Leu593Val",
"transcript": "ENST00000519865.5",
"protein_id": "ENSP00000430397.1",
"transcript_support_level": 5,
"aa_start": 593,
"aa_end": null,
"aa_length": 663,
"cds_start": 1777,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519865.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF145",
"gene_hgnc_id": 20853,
"hgvs_c": "c.1825C>G",
"hgvs_p": "p.Leu609Val",
"transcript": "XM_024454383.2",
"protein_id": "XP_024310151.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 679,
"cds_start": 1825,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454383.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF145",
"gene_hgnc_id": 20853,
"hgvs_c": "c.1777C>G",
"hgvs_p": "p.Leu593Val",
"transcript": "XM_017009138.3",
"protein_id": "XP_016864627.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 663,
"cds_start": 1777,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009138.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF145",
"gene_hgnc_id": 20853,
"hgvs_c": "n.466C>G",
"hgvs_p": null,
"transcript": "ENST00000518284.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000518284.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF145",
"gene_hgnc_id": 20853,
"hgvs_c": "n.246C>G",
"hgvs_p": null,
"transcript": "ENST00000519985.1",
"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": "ENST00000519985.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "LINC02202",
"gene_hgnc_id": 53068,
"hgvs_c": "n.208-2464G>C",
"hgvs_p": null,
"transcript": "ENST00000826187.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000826187.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LINC02202",
"gene_hgnc_id": 53068,
"hgvs_c": "n.162-2464G>C",
"hgvs_p": null,
"transcript": "ENST00000826188.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000826188.1"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "LINC02202",
"gene_hgnc_id": 53068,
"hgvs_c": "n.111-2464G>C",
"hgvs_p": null,
"transcript": "ENST00000826189.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000826189.1"
}
],
"gene_symbol": "RNF145",
"gene_hgnc_id": 20853,
"dbsnp": null,
"frequency_reference_population": 6.84149e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84149e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07372581958770752,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.13,
"revel_prediction": "Benign",
"alphamissense_score": 0.0606,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.896,
"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": 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_001199380.2",
"gene_symbol": "RNF145",
"hgnc_id": 20853,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1867C>G",
"hgvs_p": "p.Leu623Val"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000826187.1",
"gene_symbol": "LINC02202",
"hgnc_id": 53068,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.208-2464G>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
}