← 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: 19-41422633-ACGAGGCCC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=41422633&ref=ACGAGGCCC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "BCKDHA",
"hgnc_id": 986,
"hgvs_c": "c.861_868delAGGCCCCG",
"hgvs_p": "p.Gly288fs",
"inheritance_mode": "AR",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_000709.4",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "ENSG00000255730",
"hgnc_id": null,
"hgvs_c": "c.963_970delAGGCCCCG",
"hgvs_p": "p.Gly322fs",
"inheritance_mode": "",
"pathogenic_score": 18,
"score": 18,
"transcript": "ENST00000540732.3",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "19",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Maple syrup urine disease,Maple syrup urine disease type 1A,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:6",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 445,
"aa_ref": "RGPG",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1742,
"cdna_start": 871,
"cds_end": null,
"cds_length": 1338,
"cds_start": 861,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_000709.4",
"gene_hgnc_id": 986,
"gene_symbol": "BCKDHA",
"hgvs_c": "c.861_868delAGGCCCCG",
"hgvs_p": "p.Gly288fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000269980.7",
"protein_coding": true,
"protein_id": "NP_000700.1",
"strand": true,
"transcript": "NM_000709.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 445,
"aa_ref": "RGPG",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1742,
"cdna_start": 871,
"cds_end": null,
"cds_length": 1338,
"cds_start": 861,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000269980.7",
"gene_hgnc_id": 986,
"gene_symbol": "BCKDHA",
"hgvs_c": "c.861_868delAGGCCCCG",
"hgvs_p": "p.Gly288fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000709.4",
"protein_coding": true,
"protein_id": "ENSP00000269980.2",
"strand": true,
"transcript": "ENST00000269980.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 479,
"aa_ref": "RGPG",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1960,
"cdna_start": 1090,
"cds_end": null,
"cds_length": 1440,
"cds_start": 963,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000540732.3",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000255730",
"hgvs_c": "c.963_970delAGGCCCCG",
"hgvs_p": "p.Gly322fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443246.1",
"strand": true,
"transcript": "ENST00000540732.3",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 521,
"aa_ref": "RGPG",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1969,
"cdna_start": 1098,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1089,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000919033.1",
"gene_hgnc_id": 986,
"gene_symbol": "BCKDHA",
"hgvs_c": "c.1089_1096delAGGCCCCG",
"hgvs_p": "p.Gly364fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589092.1",
"strand": true,
"transcript": "ENST00000919033.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 470,
"aa_ref": "RGPG",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1816,
"cdna_start": 871,
"cds_end": null,
"cds_length": 1413,
"cds_start": 861,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000906426.1",
"gene_hgnc_id": 986,
"gene_symbol": "BCKDHA",
"hgvs_c": "c.861_868delAGGCCCCG",
"hgvs_p": "p.Gly288fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576485.1",
"strand": true,
"transcript": "ENST00000906426.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 469,
"aa_ref": "RGPG",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1813,
"cdna_start": 868,
"cds_end": null,
"cds_length": 1410,
"cds_start": 858,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000906427.1",
"gene_hgnc_id": 986,
"gene_symbol": "BCKDHA",
"hgvs_c": "c.858_865delAGGCCCCG",
"hgvs_p": "p.Gly287fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576486.1",
"strand": true,
"transcript": "ENST00000906427.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 458,
"aa_ref": "RGPG",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1800,
"cdna_start": 887,
"cds_end": null,
"cds_length": 1377,
"cds_start": 861,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000906422.1",
"gene_hgnc_id": 986,
"gene_symbol": "BCKDHA",
"hgvs_c": "c.861_868delAGGCCCCG",
"hgvs_p": "p.Gly288fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576481.1",
"strand": true,
"transcript": "ENST00000906422.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 448,
"aa_ref": "RGPG",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1745,
"cdna_start": 800,
"cds_end": null,
"cds_length": 1347,
"cds_start": 795,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000457836.6",
"gene_hgnc_id": 986,
"gene_symbol": "BCKDHA",
"hgvs_c": "c.795_802delAGGCCCCG",
"hgvs_p": "p.Gly266fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416000.2",
"strand": true,
"transcript": "ENST00000457836.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 444,
"aa_ref": "RGPG",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1739,
"cdna_start": 868,
"cds_end": null,
"cds_length": 1335,
"cds_start": 858,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001164783.2",
"gene_hgnc_id": 986,
"gene_symbol": "BCKDHA",
"hgvs_c": "c.858_865delAGGCCCCG",
"hgvs_p": "p.Gly287fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001158255.1",
"strand": true,
"transcript": "NM_001164783.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 444,
"aa_ref": "RGPG",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1767,
"cdna_start": 893,
"cds_end": null,
"cds_length": 1335,
"cds_start": 858,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000906421.1",
"gene_hgnc_id": 986,
"gene_symbol": "BCKDHA",
"hgvs_c": "c.858_865delAGGCCCCG",
"hgvs_p": "p.Gly287fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576480.1",
"strand": true,
"transcript": "ENST00000906421.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 391,
"aa_ref": "RGPG",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1583,
"cdna_start": 709,
"cds_end": null,
"cds_length": 1176,
"cds_start": 699,
"consequences": [
"frameshift_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000906424.1",
"gene_hgnc_id": 986,
"gene_symbol": "BCKDHA",
"hgvs_c": "c.699_706delAGGCCCCG",
"hgvs_p": "p.Gly234fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576483.1",
"strand": true,
"transcript": "ENST00000906424.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 376,
"aa_ref": "RGPG",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1551,
"cdna_start": 680,
"cds_end": null,
"cds_length": 1131,
"cds_start": 654,
"consequences": [
"frameshift_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000906423.1",
"gene_hgnc_id": 986,
"gene_symbol": "BCKDHA",
"hgvs_c": "c.654_661delAGGCCCCG",
"hgvs_p": "p.Gly219fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576482.1",
"strand": true,
"transcript": "ENST00000906423.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 375,
"aa_ref": "RGPG",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1532,
"cdna_start": 661,
"cds_end": null,
"cds_length": 1128,
"cds_start": 651,
"consequences": [
"frameshift_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000967147.1",
"gene_hgnc_id": 986,
"gene_symbol": "BCKDHA",
"hgvs_c": "c.651_658delAGGCCCCG",
"hgvs_p": "p.Gly218fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637206.1",
"strand": true,
"transcript": "ENST00000967147.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 356,
"aa_ref": "RGPG",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1475,
"cdna_start": 604,
"cds_end": null,
"cds_length": 1071,
"cds_start": 594,
"consequences": [
"frameshift_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000906425.1",
"gene_hgnc_id": 986,
"gene_symbol": "BCKDHA",
"hgvs_c": "c.594_601delAGGCCCCG",
"hgvs_p": "p.Gly199fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576484.1",
"strand": true,
"transcript": "ENST00000906425.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 327,
"aa_ref": "RGPG",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 994,
"cdna_start": 782,
"cds_end": null,
"cds_length": 986,
"cds_start": 774,
"consequences": [
"frameshift_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000542943.5",
"gene_hgnc_id": 986,
"gene_symbol": "BCKDHA",
"hgvs_c": "c.774_781delAGGCCCCG",
"hgvs_p": "p.Gly259fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440345.1",
"strand": true,
"transcript": "ENST00000542943.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 403,
"aa_ref": "RGPG",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1620,
"cdna_start": 878,
"cds_end": null,
"cds_length": 1212,
"cds_start": 861,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000967145.1",
"gene_hgnc_id": 986,
"gene_symbol": "BCKDHA",
"hgvs_c": "c.861_868delAGGCCCCG",
"hgvs_p": "p.Gly288fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637204.1",
"strand": true,
"transcript": "ENST00000967145.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 170,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 915,
"cdna_start": null,
"cds_end": null,
"cds_length": 513,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000919034.1",
"gene_hgnc_id": 986,
"gene_symbol": "BCKDHA",
"hgvs_c": "c.407-1866_407-1859delAGGCCCCG",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589093.1",
"strand": true,
"transcript": "ENST00000919034.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 615,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000535632.5",
"gene_hgnc_id": 986,
"gene_symbol": "BCKDHA",
"hgvs_c": "n.490_497delAGGCCCCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000535632.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 587,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000545787.1",
"gene_hgnc_id": 986,
"gene_symbol": "BCKDHA",
"hgvs_c": "n.489_496delAGGCCCCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000545787.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs794727847",
"effect": "frameshift_variant",
"frequency_reference_population": 6.840881e-7,
"gene_hgnc_id": 986,
"gene_symbol": "BCKDHA",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84088e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic",
"phenotype_combined": "Maple syrup urine disease type 1A|Maple syrup urine disease|not provided",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 9.23,
"pos": 41422633,
"ref": "ACGAGGCCC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_000709.4"
}
]
}