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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: 2-85597128-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=85597128&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 85597128,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_016494.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"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": "RNF181",
"gene_hgnc_id": 28037,
"hgvs_c": "c.352T>C",
"hgvs_p": "p.Tyr118His",
"transcript": "NM_016494.4",
"protein_id": "NP_057578.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 153,
"cds_start": 352,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000306368.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016494.4"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"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": "RNF181",
"gene_hgnc_id": 28037,
"hgvs_c": "c.352T>C",
"hgvs_p": "p.Tyr118His",
"transcript": "ENST00000306368.9",
"protein_id": "ENSP00000306906.4",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 153,
"cds_start": 352,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016494.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306368.9"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"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": "RNF181",
"gene_hgnc_id": 28037,
"hgvs_c": "c.367T>C",
"hgvs_p": "p.Tyr123His",
"transcript": "ENST00000867201.1",
"protein_id": "ENSP00000537260.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 158,
"cds_start": 367,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867201.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"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": "RNF181",
"gene_hgnc_id": 28037,
"hgvs_c": "c.337T>C",
"hgvs_p": "p.Tyr113His",
"transcript": "ENST00000923728.1",
"protein_id": "ENSP00000593787.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 148,
"cds_start": 337,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923728.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF181",
"gene_hgnc_id": 28037,
"hgvs_c": "c.352T>C",
"hgvs_p": "p.Tyr118His",
"transcript": "ENST00000441634.5",
"protein_id": "ENSP00000412025.1",
"transcript_support_level": 2,
"aa_start": 118,
"aa_end": null,
"aa_length": 139,
"cds_start": 352,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441634.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF181",
"gene_hgnc_id": 28037,
"hgvs_c": "c.238T>C",
"hgvs_p": "p.Tyr80His",
"transcript": "ENST00000923730.1",
"protein_id": "ENSP00000593789.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 115,
"cds_start": 238,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923730.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"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": "RNF181",
"gene_hgnc_id": 28037,
"hgvs_c": "c.172T>C",
"hgvs_p": "p.Tyr58His",
"transcript": "ENST00000923729.1",
"protein_id": "ENSP00000593788.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 93,
"cds_start": 172,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923729.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF181",
"gene_hgnc_id": 28037,
"hgvs_c": "c.136T>C",
"hgvs_p": "p.Tyr46His",
"transcript": "ENST00000923726.1",
"protein_id": "ENSP00000593785.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 81,
"cds_start": 136,
"cds_end": null,
"cds_length": 246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923726.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF181",
"gene_hgnc_id": 28037,
"hgvs_c": "c.339T>C",
"hgvs_p": "p.Ala113Ala",
"transcript": "ENST00000456023.1",
"protein_id": "ENSP00000415246.1",
"transcript_support_level": 3,
"aa_start": 113,
"aa_end": null,
"aa_length": 169,
"cds_start": 339,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456023.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF181",
"gene_hgnc_id": 28037,
"hgvs_c": "c.393T>C",
"hgvs_p": "p.Ala131Ala",
"transcript": "XM_005264359.5",
"protein_id": "XP_005264416.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 187,
"cds_start": 393,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264359.5"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RNF181",
"gene_hgnc_id": 28037,
"hgvs_c": "c.327+197T>C",
"hgvs_p": null,
"transcript": "ENST00000923727.1",
"protein_id": "ENSP00000593786.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 128,
"cds_start": null,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923727.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF181",
"gene_hgnc_id": 28037,
"hgvs_c": "n.*80T>C",
"hgvs_p": null,
"transcript": "ENST00000443647.5",
"protein_id": "ENSP00000391326.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000443647.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF181",
"gene_hgnc_id": 28037,
"hgvs_c": "n.*80T>C",
"hgvs_p": null,
"transcript": "ENST00000443647.5",
"protein_id": "ENSP00000391326.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000443647.5"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF181",
"gene_hgnc_id": 28037,
"hgvs_c": "n.*112T>C",
"hgvs_p": null,
"transcript": "ENST00000461845.1",
"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": "retained_intron",
"feature": "ENST00000461845.1"
}
],
"gene_symbol": "RNF181",
"gene_hgnc_id": 28037,
"dbsnp": "rs6643",
"frequency_reference_population": 0.06061586,
"hom_count_reference_population": 11317,
"allele_count_reference_population": 97830,
"gnomad_exomes_af": 0.0501147,
"gnomad_genomes_af": 0.161551,
"gnomad_exomes_ac": 73260,
"gnomad_genomes_ac": 24570,
"gnomad_exomes_homalt": 6725,
"gnomad_genomes_homalt": 4592,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0007598698139190674,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.072,
"revel_prediction": "Benign",
"alphamissense_score": 0.0692,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.646,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_016494.4",
"gene_symbol": "RNF181",
"hgnc_id": 28037,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.352T>C",
"hgvs_p": "p.Tyr118His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}