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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: 2-60782759-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=60782759&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 60782759,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_022894.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"hgvs_c": "c.1101T>G",
"hgvs_p": "p.Phe367Leu",
"transcript": "NM_022894.4",
"protein_id": "NP_075045.2",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 736,
"cds_start": 1101,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000238714.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022894.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"hgvs_c": "c.1101T>G",
"hgvs_p": "p.Phe367Leu",
"transcript": "ENST00000238714.8",
"protein_id": "ENSP00000238714.3",
"transcript_support_level": 1,
"aa_start": 367,
"aa_end": null,
"aa_length": 736,
"cds_start": 1101,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022894.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000238714.8"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"hgvs_c": "c.105T>G",
"hgvs_p": "p.Phe35Leu",
"transcript": "ENST00000412217.1",
"protein_id": "ENSP00000405570.1",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 382,
"cds_start": 105,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"hgvs_c": "n.*191T>G",
"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": null,
"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": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"hgvs_c": "n.*464T>G",
"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": null,
"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": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"hgvs_c": "n.1069T>G",
"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": null,
"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": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"hgvs_c": "n.*191T>G",
"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": null,
"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": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"hgvs_c": "n.*464T>G",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000453839.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"hgvs_c": "c.1101T>G",
"hgvs_p": "p.Phe367Leu",
"transcript": "ENST00000884004.1",
"protein_id": "ENSP00000554063.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 745,
"cds_start": 1101,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884004.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"hgvs_c": "c.1092T>G",
"hgvs_p": "p.Phe364Leu",
"transcript": "ENST00000884005.1",
"protein_id": "ENSP00000554064.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 742,
"cds_start": 1092,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884005.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"hgvs_c": "c.1101T>G",
"hgvs_p": "p.Phe367Leu",
"transcript": "ENST00000884003.1",
"protein_id": "ENSP00000554062.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 735,
"cds_start": 1101,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884003.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"hgvs_c": "c.1101T>G",
"hgvs_p": "p.Phe367Leu",
"transcript": "ENST00000884006.1",
"protein_id": "ENSP00000554065.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 734,
"cds_start": 1101,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884006.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"hgvs_c": "c.1074T>G",
"hgvs_p": "p.Phe358Leu",
"transcript": "ENST00000971332.1",
"protein_id": "ENSP00000641391.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 727,
"cds_start": 1074,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971332.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"hgvs_c": "c.1011T>G",
"hgvs_p": "p.Phe337Leu",
"transcript": "ENST00000971331.1",
"protein_id": "ENSP00000641390.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 687,
"cds_start": 1011,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971331.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"hgvs_c": "c.1101T>G",
"hgvs_p": "p.Phe367Leu",
"transcript": "XM_005264500.5",
"protein_id": "XP_005264557.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 714,
"cds_start": 1101,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264500.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"hgvs_c": "c.969T>G",
"hgvs_p": "p.Phe323Leu",
"transcript": "XM_005264501.3",
"protein_id": "XP_005264558.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 692,
"cds_start": 969,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"hgvs_c": "n.490T>G",
"hgvs_p": null,
"transcript": "ENST00000483370.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000483370.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"hgvs_c": "n.1312T>G",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007080681.1"
}
],
"gene_symbol": "PAPOLG",
"gene_hgnc_id": 14982,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9723595976829529,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.516,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.997,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.37,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.411,
"phylop100way_prediction": "Benign",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_022894.4",
"gene_symbol": "PAPOLG",
"hgnc_id": 14982,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1101T>G",
"hgvs_p": "p.Phe367Leu"
}
],
"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
}