← Back to variant description
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: 3-136327185-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=136327185&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 136327185,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000251654.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.1229G>A",
"hgvs_p": "p.Arg410Gln",
"transcript": "NM_000532.5",
"protein_id": "NP_000523.2",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 539,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 1265,
"cdna_end": null,
"cdna_length": 1799,
"mane_select": "ENST00000251654.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.1229G>A",
"hgvs_p": "p.Arg410Gln",
"transcript": "ENST00000251654.9",
"protein_id": "ENSP00000251654.4",
"transcript_support_level": 1,
"aa_start": 410,
"aa_end": null,
"aa_length": 539,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 1265,
"cdna_end": null,
"cdna_length": 1799,
"mane_select": "NM_000532.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.1229G>A",
"hgvs_p": "p.Arg410Gln",
"transcript": "ENST00000471595.5",
"protein_id": "ENSP00000417549.1",
"transcript_support_level": 1,
"aa_start": 410,
"aa_end": null,
"aa_length": 550,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 6090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.885-7095G>A",
"hgvs_p": null,
"transcript": "ENST00000478469.5",
"protein_id": "ENSP00000420759.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 303,
"cds_start": -4,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.1322G>A",
"hgvs_p": "p.Arg441Gln",
"transcript": "ENST00000468777.5",
"protein_id": "ENSP00000419129.1",
"transcript_support_level": 3,
"aa_start": 441,
"aa_end": null,
"aa_length": 570,
"cds_start": 1322,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1343,
"cdna_end": null,
"cdna_length": 1877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Arg430Gln",
"transcript": "NM_001178014.2",
"protein_id": "NP_001171485.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 559,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1325,
"cdna_end": null,
"cdna_length": 1859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Arg430Gln",
"transcript": "ENST00000466072.5",
"protein_id": "ENSP00000420158.1",
"transcript_support_level": 3,
"aa_start": 430,
"aa_end": null,
"aa_length": 559,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1310,
"cdna_end": null,
"cdna_length": 1844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Arg430Gln",
"transcript": "ENST00000469217.5",
"protein_id": "ENSP00000419027.1",
"transcript_support_level": 2,
"aa_start": 430,
"aa_end": null,
"aa_length": 559,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 1841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.1172G>A",
"hgvs_p": "p.Arg391Gln",
"transcript": "ENST00000483687.5",
"protein_id": "ENSP00000420639.1",
"transcript_support_level": 3,
"aa_start": 391,
"aa_end": null,
"aa_length": 520,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.1160G>A",
"hgvs_p": "p.Arg387Gln",
"transcript": "ENST00000462637.5",
"protein_id": "ENSP00000420391.1",
"transcript_support_level": 3,
"aa_start": 387,
"aa_end": null,
"aa_length": 516,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1181,
"cdna_end": null,
"cdna_length": 1715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Arg353Gln",
"transcript": "ENST00000490504.5",
"protein_id": "ENSP00000418307.1",
"transcript_support_level": 3,
"aa_start": 353,
"aa_end": null,
"aa_length": 482,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 1613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.881G>A",
"hgvs_p": "p.Arg294Gln",
"transcript": "ENST00000482086.5",
"protein_id": "ENSP00000417253.1",
"transcript_support_level": 3,
"aa_start": 294,
"aa_end": null,
"aa_length": 423,
"cds_start": 881,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 902,
"cdna_end": null,
"cdna_length": 1436,
"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": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "n.1430G>A",
"hgvs_p": null,
"transcript": "ENST00000473073.1",
"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": 1964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "n.823+275G>A",
"hgvs_p": null,
"transcript": "ENST00000474833.5",
"protein_id": null,
"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": 921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "n.1198+275G>A",
"hgvs_p": null,
"transcript": "ENST00000484181.5",
"protein_id": "ENSP00000417937.1",
"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": 1683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "n.*92G>A",
"hgvs_p": null,
"transcript": "ENST00000475214.5",
"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": 1295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"dbsnp": "rs778742647",
"frequency_reference_population": 0.000018587521,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.0000171015,
"gnomad_genomes_af": 0.0000328679,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8997752070426941,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.939,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3175,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.56,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.503,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.04,
"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": 17,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 17,
"benign_score": 0,
"pathogenic_score": 17,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000251654.9",
"gene_symbol": "PCCB",
"hgnc_id": 8654,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1229G>A",
"hgvs_p": "p.Arg410Gln"
}
],
"clinvar_disease": "Propionic acidemia",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:3",
"phenotype_combined": "Propionic acidemia",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}