← Back to variant description
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: 6-126346299-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=126346299&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 126346299,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001286524.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPW",
"gene_hgnc_id": 21488,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.His74Arg",
"transcript": "NM_001012507.4",
"protein_id": "NP_001012525.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 88,
"cds_start": 221,
"cds_end": null,
"cds_length": 267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368328.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001012507.4"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPW",
"gene_hgnc_id": 21488,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.His74Arg",
"transcript": "ENST00000368328.5",
"protein_id": "ENSP00000357311.4",
"transcript_support_level": 1,
"aa_start": 74,
"aa_end": null,
"aa_length": 88,
"cds_start": 221,
"cds_end": null,
"cds_length": 267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001012507.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368328.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPW",
"gene_hgnc_id": 21488,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.His89Arg",
"transcript": "NM_001286524.2",
"protein_id": "NP_001273453.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 103,
"cds_start": 266,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286524.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPW",
"gene_hgnc_id": 21488,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.His89Arg",
"transcript": "ENST00000368325.5",
"protein_id": "ENSP00000357308.1",
"transcript_support_level": 3,
"aa_start": 89,
"aa_end": null,
"aa_length": 103,
"cds_start": 266,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368325.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPW",
"gene_hgnc_id": 21488,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.His89Arg",
"transcript": "ENST00000930041.1",
"protein_id": "ENSP00000600100.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 99,
"cds_start": 266,
"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": "ENST00000930041.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPW",
"gene_hgnc_id": 21488,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.His74Arg",
"transcript": "ENST00000930040.1",
"protein_id": "ENSP00000600099.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 84,
"cds_start": 221,
"cds_end": null,
"cds_length": 255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930040.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPW",
"gene_hgnc_id": 21488,
"hgvs_c": "c.181A>G",
"hgvs_p": "p.Met61Val",
"transcript": "NM_001286525.2",
"protein_id": "NP_001273454.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 67,
"cds_start": 181,
"cds_end": null,
"cds_length": 204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286525.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPW",
"gene_hgnc_id": 21488,
"hgvs_c": "c.181A>G",
"hgvs_p": "p.Met61Val",
"transcript": "ENST00000368326.5",
"protein_id": "ENSP00000357309.1",
"transcript_support_level": 2,
"aa_start": 61,
"aa_end": null,
"aa_length": 67,
"cds_start": 181,
"cds_end": null,
"cds_length": 204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368326.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPW",
"gene_hgnc_id": 21488,
"hgvs_c": "c.181A>G",
"hgvs_p": "p.Met61Val",
"transcript": "XM_017010845.2",
"protein_id": "XP_016866334.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 67,
"cds_start": 181,
"cds_end": null,
"cds_length": 204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010845.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPW",
"gene_hgnc_id": 21488,
"hgvs_c": "n.380A>G",
"hgvs_p": null,
"transcript": "NR_104462.2",
"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": "NR_104462.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENSG00000293110",
"gene_hgnc_id": null,
"hgvs_c": "n.2418-39600T>C",
"hgvs_p": null,
"transcript": "ENST00000651326.1",
"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": "ENST00000651326.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000293110",
"gene_hgnc_id": null,
"hgvs_c": "n.631-35542T>C",
"hgvs_p": null,
"transcript": "ENST00000652383.1",
"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": "ENST00000652383.1"
}
],
"gene_symbol": "CENPW",
"gene_hgnc_id": 21488,
"dbsnp": "rs573976282",
"frequency_reference_population": 0.00004594804,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.000045948,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5961734652519226,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.269,
"revel_prediction": "Benign",
"alphamissense_score": 0.786,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.496,
"phylop100way_prediction": "Uncertain_significance",
"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_001286524.2",
"gene_symbol": "CENPW",
"hgnc_id": 21488,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.266A>G",
"hgvs_p": "p.His89Arg"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000651326.1",
"gene_symbol": "ENSG00000293110",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.2418-39600T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}