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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: 4-88265017-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=88265017&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 88265017,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_152542.5",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1K",
"gene_hgnc_id": 25415,
"hgvs_c": "c.971A>G",
"hgvs_p": "p.His324Arg",
"transcript": "NM_152542.5",
"protein_id": "NP_689755.3",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 372,
"cds_start": 971,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 6309,
"mane_select": "ENST00000608933.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152542.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1K",
"gene_hgnc_id": 25415,
"hgvs_c": "c.971A>G",
"hgvs_p": "p.His324Arg",
"transcript": "ENST00000608933.6",
"protein_id": "ENSP00000477341.1",
"transcript_support_level": 1,
"aa_start": 324,
"aa_end": null,
"aa_length": 372,
"cds_start": 971,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 6309,
"mane_select": "NM_152542.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000608933.6"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1K",
"gene_hgnc_id": 25415,
"hgvs_c": "c.971A>G",
"hgvs_p": "p.His324Arg",
"transcript": "ENST00000882965.1",
"protein_id": "ENSP00000553024.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 372,
"cds_start": 971,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 1990,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882965.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1K",
"gene_hgnc_id": 25415,
"hgvs_c": "c.971A>G",
"hgvs_p": "p.His324Arg",
"transcript": "ENST00000951960.1",
"protein_id": "ENSP00000622019.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 372,
"cds_start": 971,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 2345,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951960.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1K",
"gene_hgnc_id": 25415,
"hgvs_c": "c.971A>G",
"hgvs_p": "p.His324Arg",
"transcript": "ENST00000951962.1",
"protein_id": "ENSP00000622021.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 372,
"cds_start": 971,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 2144,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951962.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1K",
"gene_hgnc_id": 25415,
"hgvs_c": "c.971A>G",
"hgvs_p": "p.His324Arg",
"transcript": "ENST00000882964.1",
"protein_id": "ENSP00000553023.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 369,
"cds_start": 971,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 2055,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882964.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1K",
"gene_hgnc_id": 25415,
"hgvs_c": "c.971A>G",
"hgvs_p": "p.His324Arg",
"transcript": "ENST00000951961.1",
"protein_id": "ENSP00000622020.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 368,
"cds_start": 971,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 2203,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951961.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1K",
"gene_hgnc_id": 25415,
"hgvs_c": "c.689A>G",
"hgvs_p": "p.His230Arg",
"transcript": "ENST00000951959.1",
"protein_id": "ENSP00000622018.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 278,
"cds_start": 689,
"cds_end": null,
"cds_length": 837,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951959.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1K",
"gene_hgnc_id": 25415,
"hgvs_c": "c.314A>G",
"hgvs_p": "p.His105Arg",
"transcript": "ENST00000508256.5",
"protein_id": "ENSP00000476452.1",
"transcript_support_level": 2,
"aa_start": 105,
"aa_end": null,
"aa_length": 153,
"cds_start": 314,
"cds_end": null,
"cds_length": 462,
"cdna_start": 757,
"cdna_end": null,
"cdna_length": 923,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508256.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1K",
"gene_hgnc_id": 25415,
"hgvs_c": "c.971A>G",
"hgvs_p": "p.His324Arg",
"transcript": "XM_006714111.5",
"protein_id": "XP_006714174.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 372,
"cds_start": 971,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1481,
"cdna_end": null,
"cdna_length": 6604,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714111.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1K",
"gene_hgnc_id": 25415,
"hgvs_c": "c.971A>G",
"hgvs_p": "p.His324Arg",
"transcript": "XM_017007803.3",
"protein_id": "XP_016863292.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 372,
"cds_start": 971,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 6199,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007803.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1K",
"gene_hgnc_id": 25415,
"hgvs_c": "c.644A>G",
"hgvs_p": "p.His215Arg",
"transcript": "XM_017007806.3",
"protein_id": "XP_016863295.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 263,
"cds_start": 644,
"cds_end": null,
"cds_length": 792,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 5847,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007806.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1K",
"gene_hgnc_id": 25415,
"hgvs_c": "c.644A>G",
"hgvs_p": "p.His215Arg",
"transcript": "XM_047449672.1",
"protein_id": "XP_047305628.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 263,
"cds_start": 644,
"cds_end": null,
"cds_length": 792,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 5847,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449672.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PPM1K",
"gene_hgnc_id": 25415,
"hgvs_c": "c.909+62A>G",
"hgvs_p": null,
"transcript": "ENST00000882963.1",
"protein_id": "ENSP00000553022.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 346,
"cds_start": null,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882963.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PPM1K",
"gene_hgnc_id": 25415,
"hgvs_c": "c.853-2291A>G",
"hgvs_p": null,
"transcript": "ENST00000295908.11",
"protein_id": "ENSP00000295908.7",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 327,
"cds_start": null,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1940,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295908.11"
}
],
"gene_symbol": "PPM1K",
"gene_hgnc_id": 25415,
"dbsnp": "rs1731250018",
"frequency_reference_population": 0.0000041043263,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410433,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11859703063964844,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.046,
"revel_prediction": "Benign",
"alphamissense_score": 0.0612,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.033,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152542.5",
"gene_symbol": "PPM1K",
"hgnc_id": 25415,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.971A>G",
"hgvs_p": "p.His324Arg"
}
],
"clinvar_disease": " mild variant,Maple syrup urine disease",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Maple syrup urine disease, mild variant",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}