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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: 17-64496464-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=64496464&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 64496464,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_007215.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"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.505G>A",
"hgvs_p": "p.Ala169Thr",
"transcript": "NM_007215.4",
"protein_id": "NP_009146.2",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 485,
"cds_start": 505,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000539111.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007215.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.505G>A",
"hgvs_p": "p.Ala169Thr",
"transcript": "ENST00000539111.7",
"protein_id": "ENSP00000442563.2",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 485,
"cds_start": 505,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007215.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539111.7"
},
{
"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.556G>A",
"hgvs_p": null,
"transcript": "ENST00000585141.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000585141.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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": "c.505G>A",
"hgvs_p": "p.Ala169Thr",
"transcript": "ENST00000913014.1",
"protein_id": "ENSP00000583073.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 493,
"cds_start": 505,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913014.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.505G>A",
"hgvs_p": "p.Ala169Thr",
"transcript": "ENST00000913015.1",
"protein_id": "ENSP00000583074.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 466,
"cds_start": 505,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913015.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.505G>A",
"hgvs_p": "p.Ala169Thr",
"transcript": "ENST00000910210.1",
"protein_id": "ENSP00000580269.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 458,
"cds_start": 505,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910210.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.505G>A",
"hgvs_p": "p.Ala169Thr",
"transcript": "ENST00000910209.1",
"protein_id": "ENSP00000580268.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 438,
"cds_start": 505,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910209.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.505G>A",
"hgvs_p": "p.Ala169Thr",
"transcript": "XM_047435221.1",
"protein_id": "XP_047291177.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 447,
"cds_start": 505,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435221.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.505G>A",
"hgvs_p": "p.Ala169Thr",
"transcript": "XM_047435222.1",
"protein_id": "XP_047291178.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 408,
"cds_start": 505,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435222.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.505G>A",
"hgvs_p": "p.Ala169Thr",
"transcript": "XM_047435223.1",
"protein_id": "XP_047291179.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 398,
"cds_start": 505,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435223.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.505G>A",
"hgvs_p": "p.Ala169Thr",
"transcript": "XM_047435224.1",
"protein_id": "XP_047291180.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 330,
"cds_start": 505,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435224.1"
},
{
"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.*172C>T",
"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": null,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450708.2"
},
{
"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.476G>A",
"hgvs_p": null,
"transcript": "ENST00000585104.2",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000585104.2"
},
{
"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.475G>A",
"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": 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": "ENST00000671755.1"
},
{
"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.475G>A",
"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": 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": "ENST00000673460.1"
},
{
"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.1321C>T",
"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": 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": "XR_002957990.2"
},
{
"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.591G>A",
"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": 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": "XR_007065259.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POLG2",
"gene_hgnc_id": 9180,
"hgvs_c": "n.224+68G>A",
"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": 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": "ENST00000578997.1"
}
],
"gene_symbol": "POLG2",
"gene_hgnc_id": 9180,
"dbsnp": "rs1427463",
"frequency_reference_population": 0.1265053,
"hom_count_reference_population": 27966,
"allele_count_reference_population": 202558,
"gnomad_exomes_af": 0.110567,
"gnomad_genomes_af": 0.278394,
"gnomad_exomes_ac": 160226,
"gnomad_genomes_ac": 42332,
"gnomad_exomes_homalt": 16574,
"gnomad_genomes_homalt": 11392,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.000002077732688121614,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.162,
"revel_prediction": "Benign",
"alphamissense_score": 0.0711,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.252,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_007215.4",
"gene_symbol": "POLG2",
"hgnc_id": 9180,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD,SD",
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Ala169Thr"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_002957990.2",
"gene_symbol": "MILR1",
"hgnc_id": 27570,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1321C>T",
"hgvs_p": null
}
],
"clinvar_disease": " autosomal dominant 4,Mitochondrial DNA depletion syndrome 16 (hepatic type),Mitochondrial dna depletion syndrome 16B (neuroophthalmic type),Progressive external ophthalmoplegia with mitochondrial DNA deletions,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:8",
"phenotype_combined": "not specified|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4|not provided|Mitochondrial DNA depletion syndrome 16 (hepatic type)|Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}