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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: 15-75028414-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=75028414&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 75028414,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_021823.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"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": "PPCDC",
"gene_hgnc_id": 28107,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Lys32Asn",
"transcript": "NM_021823.5",
"protein_id": "NP_068595.3",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 204,
"cds_start": 96,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000342932.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021823.5"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"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": "PPCDC",
"gene_hgnc_id": 28107,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Lys32Asn",
"transcript": "ENST00000342932.8",
"protein_id": "ENSP00000343190.3",
"transcript_support_level": 1,
"aa_start": 32,
"aa_end": null,
"aa_length": 204,
"cds_start": 96,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021823.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342932.8"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "PPCDC",
"gene_hgnc_id": 28107,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Lys32Asn",
"transcript": "ENST00000889947.1",
"protein_id": "ENSP00000560006.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 204,
"cds_start": 96,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889947.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPCDC",
"gene_hgnc_id": 28107,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Lys32Asn",
"transcript": "ENST00000889948.1",
"protein_id": "ENSP00000560007.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 204,
"cds_start": 96,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889948.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPCDC",
"gene_hgnc_id": 28107,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Lys32Asn",
"transcript": "ENST00000928390.1",
"protein_id": "ENSP00000598449.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 204,
"cds_start": 96,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928390.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "PPCDC",
"gene_hgnc_id": 28107,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Lys32Asn",
"transcript": "ENST00000943486.1",
"protein_id": "ENSP00000613545.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 204,
"cds_start": 96,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943486.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPCDC",
"gene_hgnc_id": 28107,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Lys32Asn",
"transcript": "NM_001301102.2",
"protein_id": "NP_001288031.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 172,
"cds_start": 96,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301102.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPCDC",
"gene_hgnc_id": 28107,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Lys32Asn",
"transcript": "ENST00000567336.1",
"protein_id": "ENSP00000456353.1",
"transcript_support_level": 5,
"aa_start": 32,
"aa_end": null,
"aa_length": 172,
"cds_start": 96,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567336.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPCDC",
"gene_hgnc_id": 28107,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Lys32Asn",
"transcript": "NM_001301101.2",
"protein_id": "NP_001288030.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 161,
"cds_start": 96,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301101.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPCDC",
"gene_hgnc_id": 28107,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Lys32Asn",
"transcript": "ENST00000568649.5",
"protein_id": "ENSP00000455691.1",
"transcript_support_level": 5,
"aa_start": 32,
"aa_end": null,
"aa_length": 161,
"cds_start": 96,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568649.5"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "PPCDC",
"gene_hgnc_id": 28107,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Lys32Asn",
"transcript": "NM_001301103.2",
"protein_id": "NP_001288032.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 129,
"cds_start": 96,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301103.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "PPCDC",
"gene_hgnc_id": 28107,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Lys32Asn",
"transcript": "ENST00000564923.5",
"protein_id": "ENSP00000456665.1",
"transcript_support_level": 5,
"aa_start": 32,
"aa_end": null,
"aa_length": 129,
"cds_start": 96,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564923.5"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "PPCDC",
"gene_hgnc_id": 28107,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Lys32Asn",
"transcript": "ENST00000928391.1",
"protein_id": "ENSP00000598450.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 129,
"cds_start": 96,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928391.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "PPCDC",
"gene_hgnc_id": 28107,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Lys32Asn",
"transcript": "ENST00000928392.1",
"protein_id": "ENSP00000598451.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 129,
"cds_start": 96,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928392.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "PPCDC",
"gene_hgnc_id": 28107,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Lys32Asn",
"transcript": "ENST00000928393.1",
"protein_id": "ENSP00000598452.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 129,
"cds_start": 96,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928393.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPCDC",
"gene_hgnc_id": 28107,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Lys32Asn",
"transcript": "ENST00000562095.1",
"protein_id": "ENSP00000457446.1",
"transcript_support_level": 2,
"aa_start": 32,
"aa_end": null,
"aa_length": 61,
"cds_start": 96,
"cds_end": null,
"cds_length": 187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562095.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPCDC",
"gene_hgnc_id": 28107,
"hgvs_c": "c.-235+4788G>C",
"hgvs_p": null,
"transcript": "ENST00000569562.5",
"protein_id": "ENSP00000455499.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 63,
"cds_start": null,
"cds_end": null,
"cds_length": 193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569562.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPCDC",
"gene_hgnc_id": 28107,
"hgvs_c": "n.209G>C",
"hgvs_p": null,
"transcript": "ENST00000568207.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000568207.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPCDC",
"gene_hgnc_id": 28107,
"hgvs_c": "n.27+4788G>C",
"hgvs_p": null,
"transcript": "ENST00000562192.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000562192.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPCDC",
"gene_hgnc_id": 28107,
"hgvs_c": "n.37+4788G>C",
"hgvs_p": null,
"transcript": "NR_125369.2",
"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": "NR_125369.2"
}
],
"gene_symbol": "PPCDC",
"gene_hgnc_id": 28107,
"dbsnp": "rs376544872",
"frequency_reference_population": 0.000016107888,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000136809,
"gnomad_genomes_af": 0.0000394146,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6961551904678345,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.56,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9833,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.905,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.12,
"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_021823.5",
"gene_symbol": "PPCDC",
"hgnc_id": 28107,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Lys32Asn"
}
],
"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
}