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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: 11-78079609-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=78079609&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 78079609,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000281031.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC2",
"gene_hgnc_id": 7706,
"hgvs_c": "c.136C>G",
"hgvs_p": "p.Leu46Val",
"transcript": "NM_004549.6",
"protein_id": "NP_004540.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 119,
"cds_start": 136,
"cds_end": null,
"cds_length": 360,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": "ENST00000281031.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC2",
"gene_hgnc_id": 7706,
"hgvs_c": "c.136C>G",
"hgvs_p": "p.Leu46Val",
"transcript": "ENST00000281031.5",
"protein_id": "ENSP00000281031.4",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 119,
"cds_start": 136,
"cds_end": null,
"cds_length": 360,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": "NM_004549.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC2-KCTD14",
"gene_hgnc_id": 42956,
"hgvs_c": "c.136C>G",
"hgvs_p": "p.Leu46Val",
"transcript": "ENST00000530054.1",
"protein_id": "ENSP00000432614.1",
"transcript_support_level": 2,
"aa_start": 46,
"aa_end": null,
"aa_length": 114,
"cds_start": 136,
"cds_end": null,
"cds_length": 345,
"cdna_start": 257,
"cdna_end": null,
"cdna_length": 656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC2-KCTD14",
"gene_hgnc_id": 42956,
"hgvs_c": "c.136C>G",
"hgvs_p": "p.Leu46Val",
"transcript": "NM_001203260.2",
"protein_id": "NP_001190189.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 134,
"cds_start": 136,
"cds_end": null,
"cds_length": 405,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 2079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC2-KCTD14",
"gene_hgnc_id": 42956,
"hgvs_c": "c.136C>G",
"hgvs_p": "p.Leu46Val",
"transcript": "ENST00000612612.5",
"protein_id": "ENSP00000478766.1",
"transcript_support_level": 2,
"aa_start": 46,
"aa_end": null,
"aa_length": 134,
"cds_start": 136,
"cds_end": null,
"cds_length": 405,
"cdna_start": 165,
"cdna_end": null,
"cdna_length": 530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC2-KCTD14",
"gene_hgnc_id": 42956,
"hgvs_c": "c.136C>G",
"hgvs_p": "p.Leu46Val",
"transcript": "NM_001203261.2",
"protein_id": "NP_001190190.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 114,
"cds_start": 136,
"cds_end": null,
"cds_length": 345,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 1984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC2",
"gene_hgnc_id": 7706,
"hgvs_c": "c.136C>G",
"hgvs_p": "p.Leu46Val",
"transcript": "ENST00000528164.1",
"protein_id": "ENSP00000435017.1",
"transcript_support_level": 2,
"aa_start": 46,
"aa_end": null,
"aa_length": 107,
"cds_start": 136,
"cds_end": null,
"cds_length": 324,
"cdna_start": 253,
"cdna_end": null,
"cdna_length": 561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC2",
"gene_hgnc_id": 7706,
"hgvs_c": "c.136C>G",
"hgvs_p": "p.Leu46Val",
"transcript": "NM_001204055.2",
"protein_id": "NP_001190984.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 96,
"cds_start": 136,
"cds_end": null,
"cds_length": 291,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 2099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC2",
"gene_hgnc_id": 7706,
"hgvs_c": "c.136C>G",
"hgvs_p": "p.Leu46Val",
"transcript": "ENST00000525085.1",
"protein_id": "ENSP00000434262.1",
"transcript_support_level": 3,
"aa_start": 46,
"aa_end": null,
"aa_length": 96,
"cds_start": 136,
"cds_end": null,
"cds_length": 291,
"cdna_start": 211,
"cdna_end": null,
"cdna_length": 495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC2",
"gene_hgnc_id": 7706,
"hgvs_c": "c.136C>G",
"hgvs_p": "p.Leu46Val",
"transcript": "NM_001204054.3",
"protein_id": "NP_001190983.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 88,
"cds_start": 136,
"cds_end": null,
"cds_length": 267,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC2",
"gene_hgnc_id": 7706,
"hgvs_c": "c.136C>G",
"hgvs_p": "p.Leu46Val",
"transcript": "ENST00000527806.1",
"protein_id": "ENSP00000432739.1",
"transcript_support_level": 2,
"aa_start": 46,
"aa_end": null,
"aa_length": 88,
"cds_start": 136,
"cds_end": null,
"cds_length": 267,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC2-KCTD14",
"gene_hgnc_id": 42956,
"hgvs_c": "c.136C>G",
"hgvs_p": "p.Leu46Val",
"transcript": "NM_001203262.2",
"protein_id": "NP_001190191.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 86,
"cds_start": 136,
"cds_end": null,
"cds_length": 261,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 1935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC2-KCTD14",
"gene_hgnc_id": 42956,
"hgvs_c": "c.136C>G",
"hgvs_p": "p.Leu46Val",
"transcript": "ENST00000614236.2",
"protein_id": "ENSP00000481472.1",
"transcript_support_level": 5,
"aa_start": 46,
"aa_end": null,
"aa_length": 86,
"cds_start": 136,
"cds_end": null,
"cds_length": 261,
"cdna_start": 165,
"cdna_end": null,
"cdna_length": 386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC2",
"gene_hgnc_id": 7706,
"hgvs_c": "c.136C>G",
"hgvs_p": "p.Leu46Val",
"transcript": "ENST00000534029.5",
"protein_id": "ENSP00000432253.1",
"transcript_support_level": 2,
"aa_start": 46,
"aa_end": null,
"aa_length": 71,
"cds_start": 136,
"cds_end": null,
"cds_length": 216,
"cdna_start": 211,
"cdna_end": null,
"cdna_length": 422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFC2-KCTD14",
"gene_hgnc_id": 42956,
"hgvs_c": "c.136C>G",
"hgvs_p": "p.Leu46Val",
"transcript": "ENST00000528251.1",
"protein_id": "ENSP00000435967.1",
"transcript_support_level": 4,
"aa_start": 46,
"aa_end": null,
"aa_length": 66,
"cds_start": 136,
"cds_end": null,
"cds_length": 201,
"cdna_start": 236,
"cdna_end": null,
"cdna_length": 566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NDUFC2",
"gene_hgnc_id": 7706,
"dbsnp": "rs8875",
"frequency_reference_population": 0.21724467,
"hom_count_reference_population": 38804,
"allele_count_reference_population": 339261,
"gnomad_exomes_af": 0.221408,
"gnomad_genomes_af": 0.178679,
"gnomad_exomes_ac": 312071,
"gnomad_genomes_ac": 27190,
"gnomad_exomes_homalt": 35854,
"gnomad_genomes_homalt": 2950,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005250781774520874,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.02,
"revel_prediction": "Benign",
"alphamissense_score": 0.071,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.069,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "PP2,BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 12,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000281031.5",
"gene_symbol": "NDUFC2",
"hgnc_id": 7706,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.136C>G",
"hgvs_p": "p.Leu46Val"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000530054.1",
"gene_symbol": "NDUFC2-KCTD14",
"hgnc_id": 42956,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.136C>G",
"hgvs_p": "p.Leu46Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}