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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: 17-64496425-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=64496425&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 64496425,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000539111.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLG2",
"gene_hgnc_id": 9180,
"hgvs_c": "c.544C>T",
"hgvs_p": "p.Arg182Trp",
"transcript": "NM_007215.4",
"protein_id": "NP_009146.2",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 485,
"cds_start": 544,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 1582,
"mane_select": "ENST00000539111.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLG2",
"gene_hgnc_id": 9180,
"hgvs_c": "c.544C>T",
"hgvs_p": "p.Arg182Trp",
"transcript": "ENST00000539111.7",
"protein_id": "ENSP00000442563.2",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 485,
"cds_start": 544,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 1582,
"mane_select": "NM_007215.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLG2",
"gene_hgnc_id": 9180,
"hgvs_c": "n.595C>T",
"hgvs_p": null,
"transcript": "ENST00000585141.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLG2",
"gene_hgnc_id": 9180,
"hgvs_c": "c.544C>T",
"hgvs_p": "p.Arg182Trp",
"transcript": "XM_047435221.1",
"protein_id": "XP_047291177.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 447,
"cds_start": 544,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 2059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLG2",
"gene_hgnc_id": 9180,
"hgvs_c": "c.544C>T",
"hgvs_p": "p.Arg182Trp",
"transcript": "XM_047435222.1",
"protein_id": "XP_047291178.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 408,
"cds_start": 544,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 1452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLG2",
"gene_hgnc_id": 9180,
"hgvs_c": "c.544C>T",
"hgvs_p": "p.Arg182Trp",
"transcript": "XM_047435223.1",
"protein_id": "XP_047291179.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 398,
"cds_start": 544,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 1481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLG2",
"gene_hgnc_id": 9180,
"hgvs_c": "c.544C>T",
"hgvs_p": "p.Arg182Trp",
"transcript": "XM_047435224.1",
"protein_id": "XP_047291180.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 330,
"cds_start": 544,
"cds_end": null,
"cds_length": 993,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 4621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLG2",
"gene_hgnc_id": 9180,
"hgvs_c": "n.515C>T",
"hgvs_p": null,
"transcript": "ENST00000585104.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLG2",
"gene_hgnc_id": 9180,
"hgvs_c": "n.514C>T",
"hgvs_p": null,
"transcript": "ENST00000671755.1",
"protein_id": "ENSP00000500690.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLG2",
"gene_hgnc_id": 9180,
"hgvs_c": "n.514C>T",
"hgvs_p": null,
"transcript": "ENST00000673460.1",
"protein_id": "ENSP00000500198.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MILR1",
"gene_hgnc_id": 27570,
"hgvs_c": "n.1282G>A",
"hgvs_p": null,
"transcript": "XR_002957990.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLG2",
"gene_hgnc_id": 9180,
"hgvs_c": "n.630C>T",
"hgvs_p": null,
"transcript": "XR_007065259.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MILR1",
"gene_hgnc_id": 27570,
"hgvs_c": "c.*133G>A",
"hgvs_p": null,
"transcript": "XM_024450708.2",
"protein_id": "XP_024306476.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 343,
"cds_start": -4,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POLG2",
"gene_hgnc_id": 9180,
"hgvs_c": "n.224+107C>T",
"hgvs_p": null,
"transcript": "ENST00000578997.1",
"protein_id": "ENSP00000464389.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "POLG2",
"gene_hgnc_id": 9180,
"dbsnp": "rs886037843",
"frequency_reference_population": 0.0000037935642,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000279851,
"gnomad_genomes_af": 0.0000131323,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.925555944442749,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.23000000417232513,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.801,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3178,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.32,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.66,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.23,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000539111.7",
"gene_symbol": "POLG2",
"hgnc_id": 9180,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD,SD",
"hgvs_c": "c.544C>T",
"hgvs_p": "p.Arg182Trp"
},
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "XR_002957990.2",
"gene_symbol": "MILR1",
"hgnc_id": 27570,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1282G>A",
"hgvs_p": null
}
],
"clinvar_disease": " autosomal dominant 4,Acute liver failure,Mitochondrial DNA depletion syndrome 16A,Progressive external ophthalmoplegia with mitochondrial DNA deletions,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:2 US:1",
"phenotype_combined": "Acute liver failure|not provided|Mitochondrial DNA depletion syndrome 16A|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}