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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: 2-206141952-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=206141952&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 206141952,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000233190.11",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1251A>T",
"hgvs_p": "p.Arg417Ser",
"transcript": "NM_005006.7",
"protein_id": "NP_004997.4",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 727,
"cds_start": 1251,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1359,
"cdna_end": null,
"cdna_length": 11660,
"mane_select": "ENST00000233190.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1251A>T",
"hgvs_p": "p.Arg417Ser",
"transcript": "ENST00000233190.11",
"protein_id": "ENSP00000233190.5",
"transcript_support_level": 1,
"aa_start": 417,
"aa_end": null,
"aa_length": 727,
"cds_start": 1251,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1359,
"cdna_end": null,
"cdna_length": 11660,
"mane_select": "NM_005006.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1293A>T",
"hgvs_p": "p.Arg431Ser",
"transcript": "NM_001199984.2",
"protein_id": "NP_001186913.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 741,
"cds_start": 1293,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 1369,
"cdna_end": null,
"cdna_length": 11670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1251A>T",
"hgvs_p": "p.Arg417Ser",
"transcript": "ENST00000449699.5",
"protein_id": "ENSP00000399912.1",
"transcript_support_level": 2,
"aa_start": 417,
"aa_end": null,
"aa_length": 727,
"cds_start": 1251,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1354,
"cdna_end": null,
"cdna_length": 2371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1143A>T",
"hgvs_p": "p.Arg381Ser",
"transcript": "NM_001199981.2",
"protein_id": "NP_001186910.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 691,
"cds_start": 1143,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 1251,
"cdna_end": null,
"cdna_length": 11552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1143A>T",
"hgvs_p": "p.Arg381Ser",
"transcript": "ENST00000440274.5",
"protein_id": "ENSP00000409766.1",
"transcript_support_level": 2,
"aa_start": 381,
"aa_end": null,
"aa_length": 691,
"cds_start": 1143,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 1232,
"cdna_end": null,
"cdna_length": 2394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1080A>T",
"hgvs_p": "p.Arg360Ser",
"transcript": "NM_001199983.2",
"protein_id": "NP_001186912.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 670,
"cds_start": 1080,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 11568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1080A>T",
"hgvs_p": "p.Arg360Ser",
"transcript": "ENST00000423725.5",
"protein_id": "ENSP00000397760.1",
"transcript_support_level": 2,
"aa_start": 360,
"aa_end": null,
"aa_length": 670,
"cds_start": 1080,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1332,
"cdna_end": null,
"cdna_length": 2631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.918A>T",
"hgvs_p": "p.Arg306Ser",
"transcript": "NM_001199982.2",
"protein_id": "NP_001186911.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 616,
"cds_start": 918,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 11383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.918A>T",
"hgvs_p": "p.Arg306Ser",
"transcript": "ENST00000432169.5",
"protein_id": "ENSP00000409689.1",
"transcript_support_level": 2,
"aa_start": 306,
"aa_end": null,
"aa_length": 616,
"cds_start": 918,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1063,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.903A>T",
"hgvs_p": "p.Arg301Ser",
"transcript": "ENST00000457011.5",
"protein_id": "ENSP00000400976.1",
"transcript_support_level": 2,
"aa_start": 301,
"aa_end": null,
"aa_length": 611,
"cds_start": 903,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 998,
"cdna_end": null,
"cdna_length": 2171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"dbsnp": "rs1801318",
"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": 0.9845066666603088,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.911,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9922,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.39,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.421,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP2,PP3_Strong",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000233190.11",
"gene_symbol": "NDUFS1",
"hgnc_id": 7707,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1251A>T",
"hgvs_p": "p.Arg417Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}