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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: 11-67066828-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=67066828&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 67066828,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014578.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOD",
"gene_hgnc_id": 670,
"hgvs_c": "c.311T>C",
"hgvs_p": "p.Phe104Ser",
"transcript": "NM_014578.4",
"protein_id": "NP_055393.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 210,
"cds_start": 311,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000308831.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014578.4"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOD",
"gene_hgnc_id": 670,
"hgvs_c": "c.311T>C",
"hgvs_p": "p.Phe104Ser",
"transcript": "ENST00000308831.7",
"protein_id": "ENSP00000308576.2",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 210,
"cds_start": 311,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014578.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308831.7"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOD",
"gene_hgnc_id": 670,
"hgvs_c": "c.305T>C",
"hgvs_p": "p.Phe102Ser",
"transcript": "ENST00000858138.1",
"protein_id": "ENSP00000528197.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 208,
"cds_start": 305,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858138.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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": "RHOD",
"gene_hgnc_id": 670,
"hgvs_c": "c.428T>C",
"hgvs_p": "p.Phe143Ser",
"transcript": "ENST00000858139.1",
"protein_id": "ENSP00000528198.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 204,
"cds_start": 428,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858139.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOD",
"gene_hgnc_id": 670,
"hgvs_c": "c.311T>C",
"hgvs_p": "p.Phe104Ser",
"transcript": "ENST00000941016.1",
"protein_id": "ENSP00000611075.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 200,
"cds_start": 311,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941016.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOD",
"gene_hgnc_id": 670,
"hgvs_c": "c.311T>C",
"hgvs_p": "p.Phe104Ser",
"transcript": "ENST00000858135.1",
"protein_id": "ENSP00000528194.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 181,
"cds_start": 311,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858135.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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": "RHOD",
"gene_hgnc_id": 670,
"hgvs_c": "c.311T>C",
"hgvs_p": "p.Phe104Ser",
"transcript": "ENST00000858136.1",
"protein_id": "ENSP00000528195.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 165,
"cds_start": 311,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858136.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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": "RHOD",
"gene_hgnc_id": 670,
"hgvs_c": "c.311T>C",
"hgvs_p": "p.Phe104Ser",
"transcript": "ENST00000941015.1",
"protein_id": "ENSP00000611074.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 136,
"cds_start": 311,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941015.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RHOD",
"gene_hgnc_id": 670,
"hgvs_c": "c.133-3597T>C",
"hgvs_p": null,
"transcript": "NM_001300886.2",
"protein_id": "NP_001287815.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 144,
"cds_start": null,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300886.2"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RHOD",
"gene_hgnc_id": 670,
"hgvs_c": "c.133-3597T>C",
"hgvs_p": null,
"transcript": "ENST00000532559.1",
"protein_id": "ENSP00000432003.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 144,
"cds_start": null,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532559.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RHOD",
"gene_hgnc_id": 670,
"hgvs_c": "c.133-4607T>C",
"hgvs_p": null,
"transcript": "ENST00000858137.1",
"protein_id": "ENSP00000528196.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 99,
"cds_start": null,
"cds_end": null,
"cds_length": 300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858137.1"
},
{
"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": "RHOD",
"gene_hgnc_id": 670,
"hgvs_c": "n.354T>C",
"hgvs_p": null,
"transcript": "ENST00000533360.2",
"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": "ENST00000533360.2"
}
],
"gene_symbol": "RHOD",
"gene_hgnc_id": 670,
"dbsnp": "rs141423458",
"frequency_reference_population": 0.0000043397717,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000342289,
"gnomad_genomes_af": 0.0000131377,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9026088714599609,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.701,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8198,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.919,
"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": 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_014578.4",
"gene_symbol": "RHOD",
"hgnc_id": 670,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.311T>C",
"hgvs_p": "p.Phe104Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}