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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: 2-201079021-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=201079021&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 201079021,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000237889.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Cys",
"transcript": "NM_002491.3",
"protein_id": "NP_002482.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 98,
"cds_start": 139,
"cds_end": null,
"cds_length": 297,
"cdna_start": 200,
"cdna_end": null,
"cdna_length": 493,
"mane_select": "ENST00000237889.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Cys",
"transcript": "ENST00000237889.9",
"protein_id": "ENSP00000237889.4",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 98,
"cds_start": 139,
"cds_end": null,
"cds_length": 297,
"cdna_start": 200,
"cdna_end": null,
"cdna_length": 493,
"mane_select": "NM_002491.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Cys",
"transcript": "NM_001257102.2",
"protein_id": "NP_001244031.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 98,
"cds_start": 139,
"cds_end": null,
"cds_length": 297,
"cdna_start": 223,
"cdna_end": null,
"cdna_length": 516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Cys",
"transcript": "ENST00000433898.5",
"protein_id": "ENSP00000410600.1",
"transcript_support_level": 2,
"aa_start": 47,
"aa_end": null,
"aa_length": 98,
"cds_start": 139,
"cds_end": null,
"cds_length": 297,
"cdna_start": 216,
"cdna_end": null,
"cdna_length": 503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Cys",
"transcript": "ENST00000450023.6",
"protein_id": "ENSP00000401834.2",
"transcript_support_level": 3,
"aa_start": 47,
"aa_end": null,
"aa_length": 98,
"cds_start": 139,
"cds_end": null,
"cds_length": 297,
"cdna_start": 406,
"cdna_end": null,
"cdna_length": 564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Cys",
"transcript": "ENST00000454214.1",
"protein_id": "ENSP00000407336.1",
"transcript_support_level": 2,
"aa_start": 47,
"aa_end": null,
"aa_length": 98,
"cds_start": 139,
"cds_end": null,
"cds_length": 297,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Cys",
"transcript": "ENST00000682325.1",
"protein_id": "ENSP00000507925.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 98,
"cds_start": 139,
"cds_end": null,
"cds_length": 297,
"cdna_start": 1271,
"cdna_end": null,
"cdna_length": 1548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Cys",
"transcript": "ENST00000684175.1",
"protein_id": "ENSP00000508132.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 98,
"cds_start": 139,
"cds_end": null,
"cds_length": 297,
"cdna_start": 262,
"cdna_end": null,
"cdna_length": 555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Cys",
"transcript": "ENST00000684420.1",
"protein_id": "ENSP00000508208.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 98,
"cds_start": 139,
"cds_end": null,
"cds_length": 297,
"cdna_start": 451,
"cdna_end": null,
"cdna_length": 739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Cys",
"transcript": "XM_011511230.4",
"protein_id": "XP_011509532.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 98,
"cds_start": 139,
"cds_end": null,
"cds_length": 297,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Cys",
"transcript": "XM_047444488.1",
"protein_id": "XP_047300444.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 98,
"cds_start": 139,
"cds_end": null,
"cds_length": 297,
"cdna_start": 1075,
"cdna_end": null,
"cdna_length": 1368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NDUFB3",
"gene_hgnc_id": 7698,
"dbsnp": "rs772960455",
"frequency_reference_population": 0.000012458901,
"hom_count_reference_population": 0,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.0000130736,
"gnomad_genomes_af": 0.00000658051,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8876618146896362,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.7319999933242798,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.839,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6543,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.32,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.774,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.990223074718401,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,PP3",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000237889.9",
"gene_symbol": "NDUFB3",
"hgnc_id": 7698,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}