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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: 1-20649231-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=20649231&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 20649231,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_032409.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PINK1",
"gene_hgnc_id": 14581,
"hgvs_c": "c.1488G>C",
"hgvs_p": "p.Lys496Asn",
"transcript": "NM_032409.3",
"protein_id": "NP_115785.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 581,
"cds_start": 1488,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000321556.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032409.3"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PINK1",
"gene_hgnc_id": 14581,
"hgvs_c": "c.1488G>C",
"hgvs_p": "p.Lys496Asn",
"transcript": "ENST00000321556.5",
"protein_id": "ENSP00000364204.3",
"transcript_support_level": 1,
"aa_start": 496,
"aa_end": null,
"aa_length": 581,
"cds_start": 1488,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032409.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321556.5"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PINK1",
"gene_hgnc_id": 14581,
"hgvs_c": "c.1518G>C",
"hgvs_p": "p.Lys506Asn",
"transcript": "ENST00000878749.1",
"protein_id": "ENSP00000548808.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 591,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878749.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PINK1",
"gene_hgnc_id": 14581,
"hgvs_c": "c.1488G>C",
"hgvs_p": "p.Lys496Asn",
"transcript": "ENST00000878743.1",
"protein_id": "ENSP00000548802.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 587,
"cds_start": 1488,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878743.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PINK1",
"gene_hgnc_id": 14581,
"hgvs_c": "c.1491G>C",
"hgvs_p": "p.Lys497Asn",
"transcript": "ENST00000878745.1",
"protein_id": "ENSP00000548804.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 582,
"cds_start": 1491,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878745.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PINK1",
"gene_hgnc_id": 14581,
"hgvs_c": "c.1443G>C",
"hgvs_p": "p.Lys481Asn",
"transcript": "ENST00000878739.1",
"protein_id": "ENSP00000548798.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 566,
"cds_start": 1443,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878739.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PINK1",
"gene_hgnc_id": 14581,
"hgvs_c": "c.1419G>C",
"hgvs_p": "p.Lys473Asn",
"transcript": "ENST00000878746.1",
"protein_id": "ENSP00000548805.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 558,
"cds_start": 1419,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878746.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PINK1",
"gene_hgnc_id": 14581,
"hgvs_c": "c.1371G>C",
"hgvs_p": "p.Lys457Asn",
"transcript": "ENST00000878740.1",
"protein_id": "ENSP00000548799.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 542,
"cds_start": 1371,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878740.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PINK1",
"gene_hgnc_id": 14581,
"hgvs_c": "c.1362G>C",
"hgvs_p": "p.Lys454Asn",
"transcript": "ENST00000878748.1",
"protein_id": "ENSP00000548807.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 539,
"cds_start": 1362,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878748.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PINK1",
"gene_hgnc_id": 14581,
"hgvs_c": "c.1350G>C",
"hgvs_p": "p.Lys450Asn",
"transcript": "ENST00000940632.1",
"protein_id": "ENSP00000610691.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 535,
"cds_start": 1350,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940632.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PINK1",
"gene_hgnc_id": 14581,
"hgvs_c": "c.1347G>C",
"hgvs_p": "p.Lys449Asn",
"transcript": "ENST00000940631.1",
"protein_id": "ENSP00000610690.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 534,
"cds_start": 1347,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940631.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PINK1",
"gene_hgnc_id": 14581,
"hgvs_c": "c.1305G>C",
"hgvs_p": "p.Lys435Asn",
"transcript": "ENST00000878741.1",
"protein_id": "ENSP00000548800.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 520,
"cds_start": 1305,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878741.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PINK1",
"gene_hgnc_id": 14581,
"hgvs_c": "c.1296G>C",
"hgvs_p": "p.Lys432Asn",
"transcript": "ENST00000878747.1",
"protein_id": "ENSP00000548806.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 517,
"cds_start": 1296,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878747.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PINK1",
"gene_hgnc_id": 14581,
"hgvs_c": "c.1200G>C",
"hgvs_p": "p.Lys400Asn",
"transcript": "ENST00000878742.1",
"protein_id": "ENSP00000548801.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 485,
"cds_start": 1200,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878742.1"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PINK1",
"gene_hgnc_id": 14581,
"hgvs_c": "c.1455+33G>C",
"hgvs_p": null,
"transcript": "ENST00000945624.1",
"protein_id": "ENSP00000615683.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 570,
"cds_start": null,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945624.1"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PINK1",
"gene_hgnc_id": 14581,
"hgvs_c": "c.1251+599G>C",
"hgvs_p": null,
"transcript": "ENST00000878744.1",
"protein_id": "ENSP00000548803.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 502,
"cds_start": null,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878744.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PINK1",
"gene_hgnc_id": 14581,
"hgvs_c": "n.581G>C",
"hgvs_p": null,
"transcript": "ENST00000400490.2",
"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": "pseudogene",
"feature": "ENST00000400490.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "PINK1-AS",
"gene_hgnc_id": 38872,
"hgvs_c": "n.2963C>G",
"hgvs_p": null,
"transcript": "ENST00000451424.1",
"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": "pseudogene",
"feature": "ENST00000451424.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PINK1",
"gene_hgnc_id": 14581,
"hgvs_c": "n.2938G>C",
"hgvs_p": null,
"transcript": "ENST00000492302.1",
"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": "pseudogene",
"feature": "ENST00000492302.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "PINK1-AS",
"gene_hgnc_id": 38872,
"hgvs_c": "n.2963C>G",
"hgvs_p": null,
"transcript": "NR_046507.1",
"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": "NR_046507.1"
}
],
"gene_symbol": "PINK1",
"gene_hgnc_id": 14581,
"dbsnp": "rs56217826",
"frequency_reference_population": 6.841817e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84182e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8203686475753784,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.6600000262260437,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": 0.484,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4919,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.944,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.66,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032409.3",
"gene_symbol": "PINK1",
"hgnc_id": 14581,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1488G>C",
"hgvs_p": "p.Lys496Asn"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000451424.1",
"gene_symbol": "PINK1-AS",
"hgnc_id": 38872,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.2963C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}