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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: 15-89333588-G-GGCTGCTGTTGCTGCTGCTGCTGCT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=89333588&ref=G&alt=GGCTGCTGTTGCTGCTGCTGCTGCT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 89333588,
"ref": "G",
"alt": "GGCTGCTGTTGCTGCTGCTGCTGCT",
"effect": "conservative_inframe_insertion",
"transcript": "ENST00000268124.11",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "QQQQQQQQP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLG",
"gene_hgnc_id": 9179,
"hgvs_c": "c.143_166dupAGCAGCAGCAGCAGCAACAGCAGC",
"hgvs_p": "p.Gln48_Gln55dup",
"transcript": "NM_002693.3",
"protein_id": "NP_002684.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 1239,
"cds_start": 166,
"cds_end": null,
"cds_length": 3720,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 4462,
"mane_select": "ENST00000268124.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "QQQQQQQQP",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLG",
"gene_hgnc_id": 9179,
"hgvs_c": "c.143_166dupAGCAGCAGCAGCAGCAACAGCAGC",
"hgvs_p": "p.Gln48_Gln55dup",
"transcript": "ENST00000268124.11",
"protein_id": "ENSP00000268124.5",
"transcript_support_level": 1,
"aa_start": 56,
"aa_end": null,
"aa_length": 1239,
"cds_start": 166,
"cds_end": null,
"cds_length": 3720,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 4462,
"mane_select": "NM_002693.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "QQQQQQQQP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLG",
"gene_hgnc_id": 9179,
"hgvs_c": "c.143_166dupAGCAGCAGCAGCAGCAACAGCAGC",
"hgvs_p": "p.Gln48_Gln55dup",
"transcript": "ENST00000442287.6",
"protein_id": "ENSP00000399851.2",
"transcript_support_level": 1,
"aa_start": 56,
"aa_end": null,
"aa_length": 1239,
"cds_start": 166,
"cds_end": null,
"cds_length": 3720,
"cdna_start": 502,
"cdna_end": null,
"cdna_length": 4487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AAAAAATAA",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLGARF",
"gene_hgnc_id": 56246,
"hgvs_c": "c.198_221dupAGCAGCAGCAGCAGCAACAGCAGC",
"hgvs_p": "p.Ala74_Ser75insAlaAlaAlaAlaAlaThrAlaAla",
"transcript": "ENST00000706918.1",
"protein_id": "ENSP00000516626.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 260,
"cds_start": 221,
"cds_end": null,
"cds_length": 783,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "QQQQQQQQP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLG",
"gene_hgnc_id": 9179,
"hgvs_c": "c.143_166dupAGCAGCAGCAGCAGCAACAGCAGC",
"hgvs_p": "p.Gln48_Gln55dup",
"transcript": "NM_001126131.2",
"protein_id": "NP_001119603.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 1239,
"cds_start": 166,
"cds_end": null,
"cds_length": 3720,
"cdna_start": 465,
"cdna_end": null,
"cdna_length": 4450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "QQQQQQQQP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLG",
"gene_hgnc_id": 9179,
"hgvs_c": "c.143_166dupAGCAGCAGCAGCAGCAACAGCAGC",
"hgvs_p": "p.Gln48_Gln55dup",
"transcript": "ENST00000636937.2",
"protein_id": "ENSP00000516154.1",
"transcript_support_level": 5,
"aa_start": 56,
"aa_end": null,
"aa_length": 1239,
"cds_start": 166,
"cds_end": null,
"cds_length": 3720,
"cdna_start": 1110,
"cdna_end": null,
"cdna_length": 5095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AAAAAATAA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLGARF",
"gene_hgnc_id": 56246,
"hgvs_c": "c.198_221dupAGCAGCAGCAGCAGCAACAGCAGC",
"hgvs_p": "p.Ala74_Ser75insAlaAlaAlaAlaAlaThrAlaAla",
"transcript": "NM_001430120.1",
"protein_id": "NP_001417049.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 260,
"cds_start": 221,
"cds_end": null,
"cds_length": 783,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 783,
"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": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLG",
"gene_hgnc_id": 9179,
"hgvs_c": "n.143_166dupAGCAGCAGCAGCAGCAACAGCAGC",
"hgvs_p": null,
"transcript": "ENST00000631044.2",
"protein_id": "ENSP00000486730.1",
"transcript_support_level": 5,
"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": 4668,
"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": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLG",
"gene_hgnc_id": 9179,
"hgvs_c": "n.143_166dupAGCAGCAGCAGCAGCAACAGCAGC",
"hgvs_p": null,
"transcript": "ENST00000635986.2",
"protein_id": "ENSP00000490653.2",
"transcript_support_level": 5,
"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": 4388,
"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": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLG",
"gene_hgnc_id": 9179,
"hgvs_c": "n.143_166dupAGCAGCAGCAGCAGCAACAGCAGC",
"hgvs_p": null,
"transcript": "ENST00000636774.1",
"protein_id": "ENSP00000489799.1",
"transcript_support_level": 5,
"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": 4151,
"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": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLG",
"gene_hgnc_id": 9179,
"hgvs_c": "n.341_364dupAGCAGCAGCAGCAGCAACAGCAGC",
"hgvs_p": null,
"transcript": "ENST00000672071.1",
"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": 5318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLG",
"gene_hgnc_id": 9179,
"hgvs_c": "n.-257_-234dupAGCAGCAGCAGCAGCAACAGCAGC",
"hgvs_p": null,
"transcript": "ENST00000530292.3",
"protein_id": "ENSP00000432885.2",
"transcript_support_level": 5,
"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": 3843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLG",
"gene_hgnc_id": 9179,
"hgvs_c": "n.-203_-180dupAGCAGCAGCAGCAGCAACAGCAGC",
"hgvs_p": null,
"transcript": "ENST00000666746.1",
"protein_id": "ENSP00000499495.1",
"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": 3698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "POLG",
"gene_hgnc_id": 9179,
"dbsnp": "rs1555454325",
"frequency_reference_population": 0.000019876765,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.0000192598,
"gnomad_genomes_af": 0.0000198768,
"gnomad_exomes_ac": 28,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.406,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "Likely_benign",
"acmg_criteria": "BP3,BP6_Moderate",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP3",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000268124.11",
"gene_symbol": "POLG",
"hgnc_id": 9179,
"effects": [
"conservative_inframe_insertion"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.143_166dupAGCAGCAGCAGCAGCAACAGCAGC",
"hgvs_p": "p.Gln48_Gln55dup"
},
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP3",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000706918.1",
"gene_symbol": "POLGARF",
"hgnc_id": 56246,
"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "",
"hgvs_c": "c.198_221dupAGCAGCAGCAGCAGCAACAGCAGC",
"hgvs_p": "p.Ala74_Ser75insAlaAlaAlaAlaAlaThrAlaAla"
}
],
"clinvar_disease": "Progressive sclerosing poliodystrophy",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Progressive sclerosing poliodystrophy",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}