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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: X-47142424-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=47142424&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 47142424,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_019056.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB11",
"gene_hgnc_id": 20372,
"hgvs_c": "c.355C>A",
"hgvs_p": "p.Arg119Ser",
"transcript": "NM_001135998.3",
"protein_id": "NP_001129470.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 153,
"cds_start": 355,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377811.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135998.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB11",
"gene_hgnc_id": 20372,
"hgvs_c": "c.355C>A",
"hgvs_p": "p.Arg119Ser",
"transcript": "ENST00000377811.4",
"protein_id": "ENSP00000367042.3",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 153,
"cds_start": 355,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001135998.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377811.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB11",
"gene_hgnc_id": 20372,
"hgvs_c": "c.*12C>A",
"hgvs_p": null,
"transcript": "ENST00000276062.9",
"protein_id": "ENSP00000276062.9",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 111,
"cds_start": null,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000276062.9"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB11",
"gene_hgnc_id": 20372,
"hgvs_c": "c.385C>A",
"hgvs_p": "p.Arg129Ser",
"transcript": "NM_019056.7",
"protein_id": "NP_061929.2",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 163,
"cds_start": 385,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019056.7"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB11",
"gene_hgnc_id": 20372,
"hgvs_c": "c.385C>A",
"hgvs_p": "p.Arg129Ser",
"transcript": "ENST00000687244.1",
"protein_id": "ENSP00000509334.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 163,
"cds_start": 385,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687244.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB11",
"gene_hgnc_id": 20372,
"hgvs_c": "c.364C>A",
"hgvs_p": "p.Arg122Ser",
"transcript": "ENST00000917104.1",
"protein_id": "ENSP00000587163.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 156,
"cds_start": 364,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917104.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB11",
"gene_hgnc_id": 20372,
"hgvs_c": "c.214C>A",
"hgvs_p": "p.Arg72Ser",
"transcript": "ENST00000917105.1",
"protein_id": "ENSP00000587164.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 106,
"cds_start": 214,
"cds_end": null,
"cds_length": 321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917105.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB11",
"gene_hgnc_id": 20372,
"hgvs_c": "c.*156C>A",
"hgvs_p": null,
"transcript": "ENST00000690053.1",
"protein_id": "ENSP00000509556.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 123,
"cds_start": null,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690053.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB11",
"gene_hgnc_id": 20372,
"hgvs_c": "c.*12C>A",
"hgvs_p": null,
"transcript": "ENST00000692649.1",
"protein_id": "ENSP00000510488.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 110,
"cds_start": null,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692649.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB11",
"gene_hgnc_id": 20372,
"hgvs_c": "n.843C>A",
"hgvs_p": null,
"transcript": "ENST00000685599.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000685599.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFB11",
"gene_hgnc_id": 20372,
"hgvs_c": "n.1782C>A",
"hgvs_p": null,
"transcript": "ENST00000690204.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000690204.1"
},
{
"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": "NDUFB11",
"gene_hgnc_id": 20372,
"hgvs_c": "n.*401C>A",
"hgvs_p": null,
"transcript": "ENST00000688286.1",
"protein_id": "ENSP00000510534.1",
"transcript_support_level": null,
"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": "ENST00000688286.1"
}
],
"gene_symbol": "NDUFB11",
"gene_hgnc_id": 20372,
"dbsnp": "rs1253291602",
"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": 0.5565393567085266,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.285,
"revel_prediction": "Benign",
"alphamissense_score": 0.5583,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.788,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_019056.7",
"gene_symbol": "NDUFB11",
"hgnc_id": 20372,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.385C>A",
"hgvs_p": "p.Arg129Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}