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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: 16-2152860-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=2152860&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 2152860,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014353.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB26",
"gene_hgnc_id": 14259,
"hgvs_c": "c.509T>C",
"hgvs_p": "p.Val170Ala",
"transcript": "NM_014353.5",
"protein_id": "NP_055168.2",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 256,
"cds_start": 509,
"cds_end": null,
"cds_length": 771,
"cdna_start": 668,
"cdna_end": null,
"cdna_length": 1674,
"mane_select": "ENST00000210187.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014353.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB26",
"gene_hgnc_id": 14259,
"hgvs_c": "c.509T>C",
"hgvs_p": "p.Val170Ala",
"transcript": "ENST00000210187.11",
"protein_id": "ENSP00000210187.6",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 256,
"cds_start": 509,
"cds_end": null,
"cds_length": 771,
"cdna_start": 668,
"cdna_end": null,
"cdna_length": 1674,
"mane_select": "NM_014353.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000210187.11"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB26",
"gene_hgnc_id": 14259,
"hgvs_c": "c.311T>C",
"hgvs_p": "p.Val104Ala",
"transcript": "ENST00000541451.5",
"protein_id": "ENSP00000441580.1",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 190,
"cds_start": 311,
"cds_end": null,
"cds_length": 573,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 944,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541451.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB26",
"gene_hgnc_id": 14259,
"hgvs_c": "n.739T>C",
"hgvs_p": null,
"transcript": "ENST00000564426.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1922,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000564426.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "RAB26",
"gene_hgnc_id": 14259,
"hgvs_c": "n.*302T>C",
"hgvs_p": null,
"transcript": "ENST00000565592.5",
"protein_id": "ENSP00000454373.1",
"transcript_support_level": 1,
"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": 857,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000565592.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB26",
"gene_hgnc_id": 14259,
"hgvs_c": "n.*302T>C",
"hgvs_p": null,
"transcript": "ENST00000565592.5",
"protein_id": "ENSP00000454373.1",
"transcript_support_level": 1,
"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": 857,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000565592.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB26",
"gene_hgnc_id": 14259,
"hgvs_c": "c.509T>C",
"hgvs_p": "p.Val170Ala",
"transcript": "ENST00000880064.1",
"protein_id": "ENSP00000550123.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 262,
"cds_start": 509,
"cds_end": null,
"cds_length": 789,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 1582,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880064.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB26",
"gene_hgnc_id": 14259,
"hgvs_c": "c.509T>C",
"hgvs_p": "p.Val170Ala",
"transcript": "ENST00000880062.1",
"protein_id": "ENSP00000550121.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 248,
"cds_start": 509,
"cds_end": null,
"cds_length": 747,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 1622,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880062.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB26",
"gene_hgnc_id": 14259,
"hgvs_c": "c.467T>C",
"hgvs_p": "p.Val156Ala",
"transcript": "ENST00000927207.1",
"protein_id": "ENSP00000597266.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 234,
"cds_start": 467,
"cds_end": null,
"cds_length": 705,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 1496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927207.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB26",
"gene_hgnc_id": 14259,
"hgvs_c": "c.398T>C",
"hgvs_p": "p.Val133Ala",
"transcript": "ENST00000880063.1",
"protein_id": "ENSP00000550122.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 219,
"cds_start": 398,
"cds_end": null,
"cds_length": 660,
"cdna_start": 544,
"cdna_end": null,
"cdna_length": 1526,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880063.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB26",
"gene_hgnc_id": 14259,
"hgvs_c": "c.311T>C",
"hgvs_p": "p.Val104Ala",
"transcript": "NM_001308053.1",
"protein_id": "NP_001294982.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 190,
"cds_start": 311,
"cds_end": null,
"cds_length": 573,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 1688,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308053.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB26",
"gene_hgnc_id": 14259,
"hgvs_c": "n.273T>C",
"hgvs_p": null,
"transcript": "ENST00000561600.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 699,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000561600.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB26",
"gene_hgnc_id": 14259,
"hgvs_c": "n.669T>C",
"hgvs_p": null,
"transcript": "ENST00000562735.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 1720,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000562735.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB26",
"gene_hgnc_id": 14259,
"hgvs_c": "n.196T>C",
"hgvs_p": null,
"transcript": "ENST00000567145.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 609,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000567145.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SNHG19",
"gene_hgnc_id": 49574,
"hgvs_c": "n.217-939A>G",
"hgvs_p": null,
"transcript": "ENST00000720507.1",
"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": 552,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000720507.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SNHG19",
"gene_hgnc_id": 49574,
"hgvs_c": "n.280-939A>G",
"hgvs_p": null,
"transcript": "ENST00000720508.1",
"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": 611,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000720508.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB26",
"gene_hgnc_id": 14259,
"hgvs_c": "c.-183T>C",
"hgvs_p": null,
"transcript": "ENST00000566724.1",
"protein_id": "ENSP00000455675.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 135,
"cds_start": null,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 644,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566724.1"
}
],
"gene_symbol": "RAB26",
"gene_hgnc_id": 14259,
"dbsnp": "rs776309083",
"frequency_reference_population": 0.0000013741757,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000137418,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7196350693702698,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.755,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2307,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.945,
"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_014353.5",
"gene_symbol": "RAB26",
"hgnc_id": 14259,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.509T>C",
"hgvs_p": "p.Val170Ala"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000720507.1",
"gene_symbol": "SNHG19",
"hgnc_id": 49574,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.217-939A>G",
"hgvs_p": null
}
],
"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
}