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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: 2-48458137-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=48458137&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 48458137,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001135629.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R21",
"gene_hgnc_id": 30595,
"hgvs_c": "c.285A>G",
"hgvs_p": "p.Glu95Glu",
"transcript": "NM_001135629.3",
"protein_id": "NP_001129101.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 780,
"cds_start": 285,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 473,
"cdna_end": null,
"cdna_length": 3173,
"mane_select": "ENST00000294952.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R21",
"gene_hgnc_id": 30595,
"hgvs_c": "c.285A>G",
"hgvs_p": "p.Glu95Glu",
"transcript": "ENST00000294952.13",
"protein_id": "ENSP00000294952.8",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 780,
"cds_start": 285,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 473,
"cdna_end": null,
"cdna_length": 3173,
"mane_select": "NM_001135629.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R21",
"gene_hgnc_id": 30595,
"hgvs_c": "c.285A>G",
"hgvs_p": "p.Glu95Glu",
"transcript": "ENST00000281394.8",
"protein_id": "ENSP00000281394.4",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 769,
"cds_start": 285,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 470,
"cdna_end": null,
"cdna_length": 3137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R21",
"gene_hgnc_id": 30595,
"hgvs_c": "c.285A>G",
"hgvs_p": "p.Glu95Glu",
"transcript": "ENST00000449090.6",
"protein_id": "ENSP00000415696.2",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 738,
"cds_start": 285,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 470,
"cdna_end": null,
"cdna_length": 3049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R21",
"gene_hgnc_id": 30595,
"hgvs_c": "c.285A>G",
"hgvs_p": "p.Glu95Glu",
"transcript": "NM_152994.5",
"protein_id": "NP_694539.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 769,
"cds_start": 285,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 473,
"cdna_end": null,
"cdna_length": 3140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R21",
"gene_hgnc_id": 30595,
"hgvs_c": "c.285A>G",
"hgvs_p": "p.Glu95Glu",
"transcript": "NM_001193475.2",
"protein_id": "NP_001180404.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 738,
"cds_start": 285,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 473,
"cdna_end": null,
"cdna_length": 3047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R21",
"gene_hgnc_id": 30595,
"hgvs_c": "c.285A>G",
"hgvs_p": "p.Glu95Glu",
"transcript": "XM_047443254.1",
"protein_id": "XP_047299210.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 459,
"cds_start": 285,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 473,
"cdna_end": null,
"cdna_length": 1595,
"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": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R21",
"gene_hgnc_id": 30595,
"hgvs_c": "n.*159A>G",
"hgvs_p": null,
"transcript": "ENST00000416913.5",
"protein_id": "ENSP00000414130.1",
"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": 3208,
"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": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R21",
"gene_hgnc_id": 30595,
"hgvs_c": "n.*109A>G",
"hgvs_p": null,
"transcript": "ENST00000431614.5",
"protein_id": "ENSP00000406283.1",
"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": 2481,
"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": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R21",
"gene_hgnc_id": 30595,
"hgvs_c": "n.512A>G",
"hgvs_p": null,
"transcript": "NR_024188.3",
"protein_id": null,
"transcript_support_level": null,
"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": 3212,
"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": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R21",
"gene_hgnc_id": 30595,
"hgvs_c": "n.473A>G",
"hgvs_p": null,
"transcript": "XR_007069367.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R21",
"gene_hgnc_id": 30595,
"hgvs_c": "n.*159A>G",
"hgvs_p": null,
"transcript": "ENST00000416913.5",
"protein_id": "ENSP00000414130.1",
"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": 3208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R21",
"gene_hgnc_id": 30595,
"hgvs_c": "n.*109A>G",
"hgvs_p": null,
"transcript": "ENST00000431614.5",
"protein_id": "ENSP00000406283.1",
"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": 2481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PPP1R21",
"gene_hgnc_id": 30595,
"dbsnp": "rs141303876",
"frequency_reference_population": 0.000251605,
"hom_count_reference_population": 2,
"allele_count_reference_population": 405,
"gnomad_exomes_af": 0.000133808,
"gnomad_genomes_af": 0.00137835,
"gnomad_exomes_ac": 195,
"gnomad_genomes_ac": 210,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5199999809265137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.775,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001135629.3",
"gene_symbol": "PPP1R21",
"hgnc_id": 30595,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.285A>G",
"hgvs_p": "p.Glu95Glu"
}
],
"clinvar_disease": "PPP1R21-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "PPP1R21-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}