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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: 9-121181442-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=121181442&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 121181442,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016322.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB14",
"gene_hgnc_id": 16524,
"hgvs_c": "c.602G>A",
"hgvs_p": "p.Arg201Gln",
"transcript": "NM_016322.4",
"protein_id": "NP_057406.2",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 215,
"cds_start": 602,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373840.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016322.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB14",
"gene_hgnc_id": 16524,
"hgvs_c": "c.602G>A",
"hgvs_p": "p.Arg201Gln",
"transcript": "ENST00000373840.9",
"protein_id": "ENSP00000362946.4",
"transcript_support_level": 1,
"aa_start": 201,
"aa_end": null,
"aa_length": 215,
"cds_start": 602,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016322.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373840.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB14",
"gene_hgnc_id": 16524,
"hgvs_c": "c.602G>A",
"hgvs_p": "p.Arg201Gln",
"transcript": "ENST00000703999.1",
"protein_id": "ENSP00000515613.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 215,
"cds_start": 602,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703999.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB14",
"gene_hgnc_id": 16524,
"hgvs_c": "c.602G>A",
"hgvs_p": "p.Arg201Gln",
"transcript": "ENST00000704000.1",
"protein_id": "ENSP00000515614.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 215,
"cds_start": 602,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704000.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB14",
"gene_hgnc_id": 16524,
"hgvs_c": "c.602G>A",
"hgvs_p": "p.Arg201Gln",
"transcript": "ENST00000917627.1",
"protein_id": "ENSP00000587686.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 215,
"cds_start": 602,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917627.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB14",
"gene_hgnc_id": 16524,
"hgvs_c": "c.602G>A",
"hgvs_p": "p.Arg201Gln",
"transcript": "ENST00000972674.1",
"protein_id": "ENSP00000642733.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 215,
"cds_start": 602,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972674.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB14",
"gene_hgnc_id": 16524,
"hgvs_c": "c.599G>A",
"hgvs_p": "p.Arg200Gln",
"transcript": "ENST00000901390.1",
"protein_id": "ENSP00000571449.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 214,
"cds_start": 599,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901390.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB14",
"gene_hgnc_id": 16524,
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196Gln",
"transcript": "ENST00000917626.1",
"protein_id": "ENSP00000587685.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 210,
"cds_start": 587,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917626.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB14",
"gene_hgnc_id": 16524,
"hgvs_c": "c.545G>A",
"hgvs_p": "p.Arg182Gln",
"transcript": "ENST00000703998.1",
"protein_id": "ENSP00000515612.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 196,
"cds_start": 545,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703998.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB14",
"gene_hgnc_id": 16524,
"hgvs_c": "c.*118G>A",
"hgvs_p": null,
"transcript": "ENST00000703996.1",
"protein_id": "ENSP00000515610.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 155,
"cds_start": null,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703996.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB14",
"gene_hgnc_id": 16524,
"hgvs_c": "n.*316G>A",
"hgvs_p": null,
"transcript": "ENST00000703997.1",
"protein_id": "ENSP00000515611.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703997.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB14",
"gene_hgnc_id": 16524,
"hgvs_c": "n.392G>A",
"hgvs_p": null,
"transcript": "ENST00000704001.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000704001.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB14",
"gene_hgnc_id": 16524,
"hgvs_c": "n.*316G>A",
"hgvs_p": null,
"transcript": "ENST00000703997.1",
"protein_id": "ENSP00000515611.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703997.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB14",
"gene_hgnc_id": 16524,
"hgvs_c": "c.*57G>A",
"hgvs_p": null,
"transcript": "ENST00000451303.1",
"protein_id": "ENSP00000400107.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 180,
"cds_start": null,
"cds_end": null,
"cds_length": 545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451303.1"
}
],
"gene_symbol": "RAB14",
"gene_hgnc_id": 16524,
"dbsnp": "rs771312021",
"frequency_reference_population": 0.00001782018,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000178202,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 26,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.29645469784736633,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.205,
"revel_prediction": "Benign",
"alphamissense_score": 0.0854,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.792,
"phylop100way_prediction": "Pathogenic",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_016322.4",
"gene_symbol": "RAB14",
"hgnc_id": 16524,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.602G>A",
"hgvs_p": "p.Arg201Gln"
}
],
"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
}