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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: 5-132825356-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=132825356&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 132825356,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000378679.8",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.785A>G",
"hgvs_p": "p.His262Arg",
"transcript": "NM_001172700.2",
"protein_id": "NP_001166171.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 852,
"cds_start": 785,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 3768,
"mane_select": "ENST00000378679.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.785A>G",
"hgvs_p": "p.His262Arg",
"transcript": "ENST00000378679.8",
"protein_id": "ENSP00000367950.3",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 852,
"cds_start": 785,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 3768,
"mane_select": "NM_001172700.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.785A>G",
"hgvs_p": "p.His262Arg",
"transcript": "ENST00000319854.7",
"protein_id": "ENSP00000324245.3",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 847,
"cds_start": 785,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 955,
"cdna_end": null,
"cdna_length": 3190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.785A>G",
"hgvs_p": "p.His262Arg",
"transcript": "ENST00000617339.4",
"protein_id": "ENSP00000478436.1",
"transcript_support_level": 5,
"aa_start": 262,
"aa_end": null,
"aa_length": 852,
"cds_start": 785,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 1229,
"cdna_end": null,
"cdna_length": 3638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.785A>G",
"hgvs_p": "p.His262Arg",
"transcript": "NM_133456.3",
"protein_id": "NP_597713.2",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 847,
"cds_start": 785,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 955,
"cdna_end": null,
"cdna_length": 3369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.785A>G",
"hgvs_p": "p.His262Arg",
"transcript": "NM_001410779.1",
"protein_id": "NP_001397708.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 783,
"cds_start": 785,
"cds_end": null,
"cds_length": 2352,
"cdna_start": 881,
"cdna_end": null,
"cdna_length": 3103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.785A>G",
"hgvs_p": "p.His262Arg",
"transcript": "ENST00000378676.1",
"protein_id": "ENSP00000367947.1",
"transcript_support_level": 5,
"aa_start": 262,
"aa_end": null,
"aa_length": 783,
"cds_start": 785,
"cds_end": null,
"cds_length": 2352,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 2352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.785A>G",
"hgvs_p": "p.His262Arg",
"transcript": "ENST00000440118.1",
"protein_id": "ENSP00000388049.1",
"transcript_support_level": 2,
"aa_start": 262,
"aa_end": null,
"aa_length": 323,
"cds_start": 785,
"cds_end": null,
"cds_length": 972,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 1080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.785A>G",
"hgvs_p": "p.His262Arg",
"transcript": "XM_005271885.5",
"protein_id": "XP_005271942.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 852,
"cds_start": 785,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 2558,
"cdna_end": null,
"cdna_length": 4987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.785A>G",
"hgvs_p": "p.His262Arg",
"transcript": "XM_005271886.4",
"protein_id": "XP_005271943.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 852,
"cds_start": 785,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 4014,
"cdna_end": null,
"cdna_length": 6443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.785A>G",
"hgvs_p": "p.His262Arg",
"transcript": "XM_047416730.1",
"protein_id": "XP_047272686.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 852,
"cds_start": 785,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 881,
"cdna_end": null,
"cdna_length": 3310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.785A>G",
"hgvs_p": "p.His262Arg",
"transcript": "XM_047416731.1",
"protein_id": "XP_047272687.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 852,
"cds_start": 785,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 3457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.785A>G",
"hgvs_p": "p.His262Arg",
"transcript": "XM_047416732.1",
"protein_id": "XP_047272688.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 852,
"cds_start": 785,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 4880,
"cdna_end": null,
"cdna_length": 7309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.785A>G",
"hgvs_p": "p.His262Arg",
"transcript": "XM_047416733.1",
"protein_id": "XP_047272689.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 783,
"cds_start": 785,
"cds_end": null,
"cds_length": 2352,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 3250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.785A>G",
"hgvs_p": "p.His262Arg",
"transcript": "XM_006714534.3",
"protein_id": "XP_006714597.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 490,
"cds_start": 785,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 2050,
"cdna_end": null,
"cdna_length": 2836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.785A>G",
"hgvs_p": "p.His262Arg",
"transcript": "XM_047416735.1",
"protein_id": "XP_047272691.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 479,
"cds_start": 785,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 881,
"cdna_end": null,
"cdna_length": 1617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "n.-74A>G",
"hgvs_p": null,
"transcript": "ENST00000606676.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"dbsnp": "rs369587593",
"frequency_reference_population": 6.903388e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.90339e-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": 0.03264126181602478,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.005,
"revel_prediction": "Benign",
"alphamissense_score": 0.0982,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.563,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000378679.8",
"gene_symbol": "SHROOM1",
"hgnc_id": 24084,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.785A>G",
"hgvs_p": "p.His262Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}