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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: 2-60791823-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=60791823&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 60791823,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_022894.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"hgvs_c": "c.1459G>T",
"hgvs_p": "p.Val487Leu",
"transcript": "NM_022894.4",
"protein_id": "NP_075045.2",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 736,
"cds_start": 1459,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1670,
"cdna_end": null,
"cdna_length": 7348,
"mane_select": "ENST00000238714.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022894.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"hgvs_c": "c.1459G>T",
"hgvs_p": "p.Val487Leu",
"transcript": "ENST00000238714.8",
"protein_id": "ENSP00000238714.3",
"transcript_support_level": 1,
"aa_start": 487,
"aa_end": null,
"aa_length": 736,
"cds_start": 1459,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1670,
"cdna_end": null,
"cdna_length": 7348,
"mane_select": "NM_022894.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000238714.8"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"hgvs_c": "c.463G>T",
"hgvs_p": "p.Val155Leu",
"transcript": "ENST00000412217.1",
"protein_id": "ENSP00000405570.1",
"transcript_support_level": 1,
"aa_start": 155,
"aa_end": null,
"aa_length": 382,
"cds_start": 463,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 6074,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412217.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"hgvs_c": "n.*549G>T",
"hgvs_p": null,
"transcript": "ENST00000414060.5",
"protein_id": "ENSP00000405599.1",
"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": 3511,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000414060.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"hgvs_c": "n.*712G>T",
"hgvs_p": null,
"transcript": "ENST00000453839.5",
"protein_id": "ENSP00000414070.1",
"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": 3324,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000453839.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"hgvs_c": "n.1427G>T",
"hgvs_p": null,
"transcript": "ENST00000496283.5",
"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": 4193,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000496283.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"hgvs_c": "n.*549G>T",
"hgvs_p": null,
"transcript": "ENST00000414060.5",
"protein_id": "ENSP00000405599.1",
"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": 3511,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000414060.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"hgvs_c": "n.*712G>T",
"hgvs_p": null,
"transcript": "ENST00000453839.5",
"protein_id": "ENSP00000414070.1",
"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": 3324,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000453839.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"hgvs_c": "c.1486G>T",
"hgvs_p": "p.Val496Leu",
"transcript": "ENST00000884004.1",
"protein_id": "ENSP00000554063.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 745,
"cds_start": 1486,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1724,
"cdna_end": null,
"cdna_length": 3784,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884004.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"hgvs_c": "c.1477G>T",
"hgvs_p": "p.Val493Leu",
"transcript": "ENST00000884005.1",
"protein_id": "ENSP00000554064.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 742,
"cds_start": 1477,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 1688,
"cdna_end": null,
"cdna_length": 3747,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884005.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"hgvs_c": "c.1459G>T",
"hgvs_p": "p.Val487Leu",
"transcript": "ENST00000884003.1",
"protein_id": "ENSP00000554062.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 735,
"cds_start": 1459,
"cds_end": null,
"cds_length": 2208,
"cdna_start": 1706,
"cdna_end": null,
"cdna_length": 3762,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884003.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"hgvs_c": "c.1459G>T",
"hgvs_p": "p.Val487Leu",
"transcript": "ENST00000884006.1",
"protein_id": "ENSP00000554065.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 734,
"cds_start": 1459,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 1661,
"cdna_end": null,
"cdna_length": 3714,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884006.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"hgvs_c": "c.1432G>T",
"hgvs_p": "p.Val478Leu",
"transcript": "ENST00000971332.1",
"protein_id": "ENSP00000641391.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 727,
"cds_start": 1432,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1650,
"cdna_end": null,
"cdna_length": 3708,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971332.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"hgvs_c": "c.1369G>T",
"hgvs_p": "p.Val457Leu",
"transcript": "ENST00000971331.1",
"protein_id": "ENSP00000641390.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 687,
"cds_start": 1369,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1598,
"cdna_end": null,
"cdna_length": 3601,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971331.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"hgvs_c": "c.1459G>T",
"hgvs_p": "p.Val487Leu",
"transcript": "XM_005264500.5",
"protein_id": "XP_005264557.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 714,
"cds_start": 1459,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1670,
"cdna_end": null,
"cdna_length": 7282,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264500.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"hgvs_c": "c.1327G>T",
"hgvs_p": "p.Val443Leu",
"transcript": "XM_005264501.3",
"protein_id": "XP_005264558.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 692,
"cds_start": 1327,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1524,
"cdna_end": null,
"cdna_length": 7202,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264501.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"hgvs_c": "n.343G>T",
"hgvs_p": null,
"transcript": "ENST00000470208.1",
"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": 686,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000470208.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"hgvs_c": "n.1560G>T",
"hgvs_p": null,
"transcript": "XR_007080681.1",
"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": 1724,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007080681.1"
}
],
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"dbsnp": "rs1384220052",
"frequency_reference_population": 6.8423043e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8423e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7193570137023926,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.677,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.844,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.964,
"phylop100way_prediction": "Pathogenic",
"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_022894.4",
"gene_symbol": "PAPOLG",
"hgnc_id": 14982,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1459G>T",
"hgvs_p": "p.Val487Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}