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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: 14-20354859-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=20354859&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 20354859,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005484.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP2",
"gene_hgnc_id": 272,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Ile272Val",
"transcript": "NM_001042618.2",
"protein_id": "NP_001036083.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 570,
"cds_start": 814,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000429687.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042618.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP2",
"gene_hgnc_id": 272,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Ile272Val",
"transcript": "ENST00000429687.8",
"protein_id": "ENSP00000392972.3",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 570,
"cds_start": 814,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001042618.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429687.8"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP2",
"gene_hgnc_id": 272,
"hgvs_c": "c.853A>G",
"hgvs_p": "p.Ile285Val",
"transcript": "ENST00000250416.9",
"protein_id": "ENSP00000250416.5",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 583,
"cds_start": 853,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000250416.9"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP2",
"gene_hgnc_id": 272,
"hgvs_c": "c.853A>G",
"hgvs_p": "p.Ile285Val",
"transcript": "NM_005484.4",
"protein_id": "NP_005475.2",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 583,
"cds_start": 853,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005484.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP2",
"gene_hgnc_id": 272,
"hgvs_c": "c.838A>G",
"hgvs_p": "p.Ile280Val",
"transcript": "ENST00000925416.1",
"protein_id": "ENSP00000595475.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 578,
"cds_start": 838,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925416.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP2",
"gene_hgnc_id": 272,
"hgvs_c": "c.823A>G",
"hgvs_p": "p.Ile275Val",
"transcript": "ENST00000965371.1",
"protein_id": "ENSP00000635430.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 573,
"cds_start": 823,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965371.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP2",
"gene_hgnc_id": 272,
"hgvs_c": "c.784A>G",
"hgvs_p": "p.Ile262Val",
"transcript": "ENST00000859467.1",
"protein_id": "ENSP00000529526.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 560,
"cds_start": 784,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859467.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP2",
"gene_hgnc_id": 272,
"hgvs_c": "c.784A>G",
"hgvs_p": "p.Ile262Val",
"transcript": "ENST00000925415.1",
"protein_id": "ENSP00000595474.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 552,
"cds_start": 784,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925415.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP2",
"gene_hgnc_id": 272,
"hgvs_c": "c.853A>G",
"hgvs_p": "p.Ile285Val",
"transcript": "ENST00000527915.5",
"protein_id": "ENSP00000432283.1",
"transcript_support_level": 2,
"aa_start": 285,
"aa_end": null,
"aa_length": 531,
"cds_start": 853,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527915.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP2",
"gene_hgnc_id": 272,
"hgvs_c": "c.697A>G",
"hgvs_p": "p.Ile233Val",
"transcript": "ENST00000925414.1",
"protein_id": "ENSP00000595473.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 531,
"cds_start": 697,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925414.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP2",
"gene_hgnc_id": 272,
"hgvs_c": "c.658A>G",
"hgvs_p": "p.Ile220Val",
"transcript": "ENST00000859468.1",
"protein_id": "ENSP00000529527.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 518,
"cds_start": 658,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859468.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP2",
"gene_hgnc_id": 272,
"hgvs_c": "c.628A>G",
"hgvs_p": "p.Ile210Val",
"transcript": "ENST00000965372.1",
"protein_id": "ENSP00000635431.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 508,
"cds_start": 628,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965372.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP2",
"gene_hgnc_id": 272,
"hgvs_c": "c.853A>G",
"hgvs_p": "p.Ile285Val",
"transcript": "XM_005267247.4",
"protein_id": "XP_005267304.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 500,
"cds_start": 853,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267247.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP2",
"gene_hgnc_id": 272,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Ile272Val",
"transcript": "XM_017020912.2",
"protein_id": "XP_016876401.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 487,
"cds_start": 814,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020912.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP2",
"gene_hgnc_id": 272,
"hgvs_c": "c.-42A>G",
"hgvs_p": null,
"transcript": "XM_047430869.1",
"protein_id": "XP_047286825.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 285,
"cds_start": null,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430869.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP2",
"gene_hgnc_id": 272,
"hgvs_c": "n.218A>G",
"hgvs_p": null,
"transcript": "ENST00000527384.1",
"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": "retained_intron",
"feature": "ENST00000527384.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP2",
"gene_hgnc_id": 272,
"hgvs_c": "n.*282A>G",
"hgvs_p": null,
"transcript": "ENST00000529465.6",
"protein_id": "ENSP00000431867.2",
"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": "ENST00000529465.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP2",
"gene_hgnc_id": 272,
"hgvs_c": "n.*282A>G",
"hgvs_p": null,
"transcript": "ENST00000529465.6",
"protein_id": "ENSP00000431867.2",
"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": "ENST00000529465.6"
}
],
"gene_symbol": "PARP2",
"gene_hgnc_id": 272,
"dbsnp": "rs3093925",
"frequency_reference_population": 0.000014250186,
"hom_count_reference_population": 0,
"allele_count_reference_population": 23,
"gnomad_exomes_af": 0.0000136818,
"gnomad_genomes_af": 0.0000197083,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05091017484664917,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.076,
"revel_prediction": "Benign",
"alphamissense_score": 0.073,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.506,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_005484.4",
"gene_symbol": "PARP2",
"hgnc_id": 272,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.853A>G",
"hgvs_p": "p.Ile285Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}