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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: 10-123757242-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=123757242&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 123757242,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_198148.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPXM2",
"gene_hgnc_id": 26977,
"hgvs_c": "c.1888C>T",
"hgvs_p": "p.Arg630Trp",
"transcript": "NM_198148.3",
"protein_id": "NP_937791.2",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 756,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 2036,
"cdna_end": null,
"cdna_length": 3544,
"mane_select": "ENST00000241305.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPXM2",
"gene_hgnc_id": 26977,
"hgvs_c": "c.1888C>T",
"hgvs_p": "p.Arg630Trp",
"transcript": "ENST00000241305.4",
"protein_id": "ENSP00000241305.3",
"transcript_support_level": 1,
"aa_start": 630,
"aa_end": null,
"aa_length": 756,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 2036,
"cdna_end": null,
"cdna_length": 3544,
"mane_select": "NM_198148.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPXM2",
"gene_hgnc_id": 26977,
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Trp",
"transcript": "ENST00000615851.4",
"protein_id": "ENSP00000483180.1",
"transcript_support_level": 5,
"aa_start": 126,
"aa_end": null,
"aa_length": 224,
"cds_start": 376,
"cds_end": null,
"cds_length": 675,
"cdna_start": 2213,
"cdna_end": null,
"cdna_length": 2512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPXM2",
"gene_hgnc_id": 26977,
"hgvs_c": "c.1888C>T",
"hgvs_p": "p.Arg630Trp",
"transcript": "XM_005269528.4",
"protein_id": "XP_005269585.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 704,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 2036,
"cdna_end": null,
"cdna_length": 3629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPXM2",
"gene_hgnc_id": 26977,
"hgvs_c": "c.1888C>T",
"hgvs_p": "p.Arg630Trp",
"transcript": "XM_011539283.3",
"protein_id": "XP_011537585.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 695,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 2036,
"cdna_end": null,
"cdna_length": 3269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPXM2",
"gene_hgnc_id": 26977,
"hgvs_c": "c.1561C>T",
"hgvs_p": "p.Arg521Trp",
"transcript": "XM_011539285.3",
"protein_id": "XP_011537587.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 647,
"cds_start": 1561,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1848,
"cdna_end": null,
"cdna_length": 3356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPXM2",
"gene_hgnc_id": 26977,
"hgvs_c": "c.1561C>T",
"hgvs_p": "p.Arg521Trp",
"transcript": "XM_017015673.2",
"protein_id": "XP_016871162.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 647,
"cds_start": 1561,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1824,
"cdna_end": null,
"cdna_length": 3332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPXM2",
"gene_hgnc_id": 26977,
"hgvs_c": "c.1207C>T",
"hgvs_p": "p.Arg403Trp",
"transcript": "XM_011539286.2",
"protein_id": "XP_011537588.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 529,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1818,
"cdna_end": null,
"cdna_length": 3326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPXM2",
"gene_hgnc_id": 26977,
"hgvs_c": "c.907C>T",
"hgvs_p": "p.Arg303Trp",
"transcript": "XM_017015674.2",
"protein_id": "XP_016871163.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 429,
"cds_start": 907,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 2497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPXM2",
"gene_hgnc_id": 26977,
"hgvs_c": "n.1935C>T",
"hgvs_p": null,
"transcript": "ENST00000368854.7",
"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": 2648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CPXM2",
"gene_hgnc_id": 26977,
"dbsnp": "rs368753397",
"frequency_reference_population": 0.00006567909,
"hom_count_reference_population": 0,
"allele_count_reference_population": 106,
"gnomad_exomes_af": 0.0000690939,
"gnomad_genomes_af": 0.0000328666,
"gnomad_exomes_ac": 101,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7629907131195068,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.515,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.706,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.623,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_198148.3",
"gene_symbol": "CPXM2",
"hgnc_id": 26977,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1888C>T",
"hgvs_p": "p.Arg630Trp"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}