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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: 10-116596232-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=116596232&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 116596232,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_006229.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"hgvs_c": "c.484C>G",
"hgvs_p": "p.Pro162Ala",
"transcript": "NM_006229.4",
"protein_id": "NP_006220.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 467,
"cds_start": 484,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358834.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006229.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"hgvs_c": "c.484C>G",
"hgvs_p": "p.Pro162Ala",
"transcript": "ENST00000358834.9",
"protein_id": "ENSP00000351695.4",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 467,
"cds_start": 484,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006229.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358834.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"hgvs_c": "n.2280C>G",
"hgvs_p": null,
"transcript": "ENST00000525820.5",
"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": "ENST00000525820.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"hgvs_c": "n.2280C>G",
"hgvs_p": null,
"transcript": "ENST00000526223.5",
"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": "ENST00000526223.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"hgvs_c": "n.2284C>G",
"hgvs_p": null,
"transcript": "ENST00000531825.5",
"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": "ENST00000531825.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"hgvs_c": "c.484C>G",
"hgvs_p": "p.Pro162Ala",
"transcript": "NM_001303135.1",
"protein_id": "NP_001290064.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 467,
"cds_start": 484,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303135.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"hgvs_c": "c.484C>G",
"hgvs_p": "p.Pro162Ala",
"transcript": "ENST00000528052.5",
"protein_id": "ENSP00000433933.1",
"transcript_support_level": 2,
"aa_start": 162,
"aa_end": null,
"aa_length": 467,
"cds_start": 484,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528052.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"hgvs_c": "c.484C>G",
"hgvs_p": "p.Pro162Ala",
"transcript": "ENST00000534537.5",
"protein_id": "ENSP00000434159.1",
"transcript_support_level": 5,
"aa_start": 162,
"aa_end": null,
"aa_length": 467,
"cds_start": 484,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534537.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"hgvs_c": "c.484C>G",
"hgvs_p": "p.Pro162Ala",
"transcript": "ENST00000531984.5",
"protein_id": "ENSP00000436123.1",
"transcript_support_level": 5,
"aa_start": 162,
"aa_end": null,
"aa_length": 190,
"cds_start": 484,
"cds_end": null,
"cds_length": 574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531984.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"hgvs_c": "c.349C>G",
"hgvs_p": "p.Pro117Ala",
"transcript": "ENST00000530319.5",
"protein_id": "ENSP00000437263.1",
"transcript_support_level": 3,
"aa_start": 117,
"aa_end": null,
"aa_length": 184,
"cds_start": 349,
"cds_end": null,
"cds_length": 557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530319.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"hgvs_c": "c.484C>G",
"hgvs_p": "p.Pro162Ala",
"transcript": "XM_047425364.1",
"protein_id": "XP_047281320.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 268,
"cds_start": 484,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425364.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"hgvs_c": "c.331-66C>G",
"hgvs_p": null,
"transcript": "ENST00000527980.5",
"protein_id": "ENSP00000433785.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 162,
"cds_start": null,
"cds_end": null,
"cds_length": 491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527980.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"hgvs_c": "n.154C>G",
"hgvs_p": null,
"transcript": "ENST00000482833.1",
"protein_id": "ENSP00000434549.1",
"transcript_support_level": 5,
"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": "ENST00000482833.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"hgvs_c": "n.*541C>G",
"hgvs_p": null,
"transcript": "ENST00000497792.6",
"protein_id": "ENSP00000431406.1",
"transcript_support_level": 5,
"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": "ENST00000497792.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"hgvs_c": "n.*541C>G",
"hgvs_p": null,
"transcript": "ENST00000497792.6",
"protein_id": "ENSP00000431406.1",
"transcript_support_level": 5,
"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": "ENST00000497792.6"
}
],
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"dbsnp": "rs200174051",
"frequency_reference_population": 0.00014140763,
"hom_count_reference_population": 0,
"allele_count_reference_population": 228,
"gnomad_exomes_af": 0.000147243,
"gnomad_genomes_af": 0.0000854229,
"gnomad_exomes_ac": 215,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.238847553730011,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.273,
"revel_prediction": "Benign",
"alphamissense_score": 0.0687,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.868,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_006229.4",
"gene_symbol": "PNLIPRP1",
"hgnc_id": 9156,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.484C>G",
"hgvs_p": "p.Pro162Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}