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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: 15-34348595-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=34348595&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 34348595,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001284292.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUTM1",
"gene_hgnc_id": 29919,
"hgvs_c": "c.727C>T",
"hgvs_p": "p.Arg243Cys",
"transcript": "NM_001284292.2",
"protein_id": "NP_001271221.2",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 1160,
"cds_start": 727,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000537011.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284292.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUTM1",
"gene_hgnc_id": 29919,
"hgvs_c": "c.727C>T",
"hgvs_p": "p.Arg243Cys",
"transcript": "ENST00000537011.6",
"protein_id": "ENSP00000444896.1",
"transcript_support_level": 2,
"aa_start": 243,
"aa_end": null,
"aa_length": 1160,
"cds_start": 727,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001284292.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537011.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUTM1",
"gene_hgnc_id": 29919,
"hgvs_c": "c.643C>T",
"hgvs_p": "p.Arg215Cys",
"transcript": "ENST00000333756.5",
"protein_id": "ENSP00000329448.4",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 1132,
"cds_start": 643,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333756.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUTM1",
"gene_hgnc_id": 29919,
"hgvs_c": "c.697C>T",
"hgvs_p": "p.Arg233Cys",
"transcript": "NM_001284293.2",
"protein_id": "NP_001271222.2",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 1150,
"cds_start": 697,
"cds_end": null,
"cds_length": 3453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284293.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUTM1",
"gene_hgnc_id": 29919,
"hgvs_c": "c.697C>T",
"hgvs_p": "p.Arg233Cys",
"transcript": "ENST00000438749.7",
"protein_id": "ENSP00000407031.3",
"transcript_support_level": 2,
"aa_start": 233,
"aa_end": null,
"aa_length": 1150,
"cds_start": 697,
"cds_end": null,
"cds_length": 3453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438749.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUTM1",
"gene_hgnc_id": 29919,
"hgvs_c": "c.643C>T",
"hgvs_p": "p.Arg215Cys",
"transcript": "NM_175741.3",
"protein_id": "NP_786883.2",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 1132,
"cds_start": 643,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_175741.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUTM1",
"gene_hgnc_id": 29919,
"hgvs_c": "c.643C>T",
"hgvs_p": "p.Arg215Cys",
"transcript": "XM_047432341.1",
"protein_id": "XP_047288297.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 1132,
"cds_start": 643,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432341.1"
}
],
"gene_symbol": "NUTM1",
"gene_hgnc_id": 29919,
"dbsnp": "rs374262850",
"frequency_reference_population": 0.000018605482,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.0000184904,
"gnomad_genomes_af": 0.0000197099,
"gnomad_exomes_ac": 27,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.43035459518432617,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.331,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1417,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.025,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001284292.2",
"gene_symbol": "NUTM1",
"hgnc_id": 29919,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.727C>T",
"hgvs_p": "p.Arg243Cys"
}
],
"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
}