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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: 10-116591902-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=116591902&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 116591902,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000358834.9",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"hgvs_c": "c.181A>G",
"hgvs_p": "p.Asn61Asp",
"transcript": "NM_006229.4",
"protein_id": "NP_006220.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 467,
"cds_start": 181,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 218,
"cdna_end": null,
"cdna_length": 1500,
"mane_select": "ENST00000358834.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"hgvs_c": "c.181A>G",
"hgvs_p": "p.Asn61Asp",
"transcript": "ENST00000358834.9",
"protein_id": "ENSP00000351695.4",
"transcript_support_level": 1,
"aa_start": 61,
"aa_end": null,
"aa_length": 467,
"cds_start": 181,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 218,
"cdna_end": null,
"cdna_length": 1500,
"mane_select": "NM_006229.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"hgvs_c": "n.217A>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"hgvs_c": "n.217A>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"hgvs_c": "n.218A>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"hgvs_c": "c.181A>G",
"hgvs_p": "p.Asn61Asp",
"transcript": "NM_001303135.1",
"protein_id": "NP_001290064.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 467,
"cds_start": 181,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 208,
"cdna_end": null,
"cdna_length": 1490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"hgvs_c": "c.181A>G",
"hgvs_p": "p.Asn61Asp",
"transcript": "ENST00000528052.5",
"protein_id": "ENSP00000433933.1",
"transcript_support_level": 2,
"aa_start": 61,
"aa_end": null,
"aa_length": 467,
"cds_start": 181,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 1533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"hgvs_c": "c.181A>G",
"hgvs_p": "p.Asn61Asp",
"transcript": "ENST00000534537.5",
"protein_id": "ENSP00000434159.1",
"transcript_support_level": 5,
"aa_start": 61,
"aa_end": null,
"aa_length": 467,
"cds_start": 181,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 181,
"cdna_end": null,
"cdna_length": 1459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"hgvs_c": "c.181A>G",
"hgvs_p": "p.Asn61Asp",
"transcript": "ENST00000531984.5",
"protein_id": "ENSP00000436123.1",
"transcript_support_level": 5,
"aa_start": 61,
"aa_end": null,
"aa_length": 190,
"cds_start": 181,
"cds_end": null,
"cds_length": 574,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"hgvs_c": "c.181A>G",
"hgvs_p": "p.Asn61Asp",
"transcript": "ENST00000530319.5",
"protein_id": "ENSP00000437263.1",
"transcript_support_level": 3,
"aa_start": 61,
"aa_end": null,
"aa_length": 184,
"cds_start": 181,
"cds_end": null,
"cds_length": 557,
"cdna_start": 205,
"cdna_end": null,
"cdna_length": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"hgvs_c": "c.181A>G",
"hgvs_p": "p.Asn61Asp",
"transcript": "ENST00000527980.5",
"protein_id": "ENSP00000433785.1",
"transcript_support_level": 3,
"aa_start": 61,
"aa_end": null,
"aa_length": 162,
"cds_start": 181,
"cds_end": null,
"cds_length": 491,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"hgvs_c": "c.181A>G",
"hgvs_p": "p.Asn61Asp",
"transcript": "ENST00000471549.5",
"protein_id": "ENSP00000431207.1",
"transcript_support_level": 2,
"aa_start": 61,
"aa_end": null,
"aa_length": 130,
"cds_start": 181,
"cds_end": null,
"cds_length": 395,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"hgvs_c": "c.181A>G",
"hgvs_p": "p.Asn61Asp",
"transcript": "XM_047425364.1",
"protein_id": "XP_047281320.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 268,
"cds_start": 181,
"cds_end": null,
"cds_length": 807,
"cdna_start": 218,
"cdna_end": null,
"cdna_length": 948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"hgvs_c": "n.341A>G",
"hgvs_p": null,
"transcript": "ENST00000470678.6",
"protein_id": null,
"transcript_support_level": 2,
"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": 514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"hgvs_c": "n.260A>G",
"hgvs_p": null,
"transcript": "ENST00000480870.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"hgvs_c": "n.218A>G",
"hgvs_p": null,
"transcript": "ENST00000482159.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"hgvs_c": "n.343A>G",
"hgvs_p": null,
"transcript": "ENST00000484402.6",
"protein_id": null,
"transcript_support_level": 2,
"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": 960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"hgvs_c": "n.181A>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"hgvs_c": "n.381A>G",
"hgvs_p": null,
"transcript": "ENST00000525157.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"hgvs_c": "n.218A>G",
"hgvs_p": null,
"transcript": "ENST00000529584.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"hgvs_c": "n.344A>G",
"hgvs_p": null,
"transcript": "ENST00000530626.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PNLIPRP1",
"gene_hgnc_id": 9156,
"dbsnp": "rs11197744",
"frequency_reference_population": 0.02574052,
"hom_count_reference_population": 644,
"allele_count_reference_population": 41547,
"gnomad_exomes_af": 0.0263921,
"gnomad_genomes_af": 0.0194851,
"gnomad_exomes_ac": 38580,
"gnomad_genomes_ac": 2967,
"gnomad_exomes_homalt": 591,
"gnomad_genomes_homalt": 53,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00664326548576355,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.408,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1157,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.202,
"phylop100way_prediction": "Uncertain_significance",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000358834.9",
"gene_symbol": "PNLIPRP1",
"hgnc_id": 9156,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.181A>G",
"hgvs_p": "p.Asn61Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}