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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: 16-31462346-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=31462346&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 31462346,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000268314.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC5",
"gene_hgnc_id": 25781,
"hgvs_c": "c.799C>G",
"hgvs_p": "p.Arg267Gly",
"transcript": "NM_001105247.2",
"protein_id": "NP_001098717.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 935,
"cds_start": 799,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 3108,
"mane_select": "ENST00000268314.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC5",
"gene_hgnc_id": 25781,
"hgvs_c": "c.799C>G",
"hgvs_p": "p.Arg267Gly",
"transcript": "ENST00000268314.9",
"protein_id": "ENSP00000268314.4",
"transcript_support_level": 5,
"aa_start": 267,
"aa_end": null,
"aa_length": 935,
"cds_start": 799,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 3108,
"mane_select": "NM_001105247.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC5",
"gene_hgnc_id": 25781,
"hgvs_c": "c.799C>G",
"hgvs_p": "p.Arg267Gly",
"transcript": "ENST00000457010.6",
"protein_id": "ENSP00000399561.2",
"transcript_support_level": 1,
"aa_start": 267,
"aa_end": null,
"aa_length": 725,
"cds_start": 799,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1500,
"cdna_end": null,
"cdna_length": 4844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "ARMC5",
"gene_hgnc_id": 25781,
"hgvs_c": "c.1084C>G",
"hgvs_p": "p.Arg362Gly",
"transcript": "NM_001288767.2",
"protein_id": "NP_001275696.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 1030,
"cds_start": 1084,
"cds_end": null,
"cds_length": 3093,
"cdna_start": 1177,
"cdna_end": null,
"cdna_length": 3462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "ARMC5",
"gene_hgnc_id": 25781,
"hgvs_c": "c.1084C>G",
"hgvs_p": "p.Arg362Gly",
"transcript": "ENST00000408912.7",
"protein_id": "ENSP00000386125.3",
"transcript_support_level": 2,
"aa_start": 362,
"aa_end": null,
"aa_length": 1030,
"cds_start": 1084,
"cds_end": null,
"cds_length": 3093,
"cdna_start": 1401,
"cdna_end": null,
"cdna_length": 3626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC5",
"gene_hgnc_id": 25781,
"hgvs_c": "c.895C>G",
"hgvs_p": "p.Arg299Gly",
"transcript": "NM_001301820.1",
"protein_id": "NP_001288749.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 967,
"cds_start": 895,
"cds_end": null,
"cds_length": 2904,
"cdna_start": 1343,
"cdna_end": null,
"cdna_length": 3630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC5",
"gene_hgnc_id": 25781,
"hgvs_c": "c.799C>G",
"hgvs_p": "p.Arg267Gly",
"transcript": "ENST00000563544.5",
"protein_id": "ENSP00000456877.1",
"transcript_support_level": 2,
"aa_start": 267,
"aa_end": null,
"aa_length": 935,
"cds_start": 799,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 1345,
"cdna_end": null,
"cdna_length": 3549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC5",
"gene_hgnc_id": 25781,
"hgvs_c": "c.799C>G",
"hgvs_p": "p.Arg267Gly",
"transcript": "NM_024742.2",
"protein_id": "NP_079018.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 725,
"cds_start": 799,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 4673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC5",
"gene_hgnc_id": 25781,
"hgvs_c": "c.895C>G",
"hgvs_p": "p.Arg299Gly",
"transcript": "XM_006721091.4",
"protein_id": "XP_006721154.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 973,
"cds_start": 895,
"cds_end": null,
"cds_length": 2922,
"cdna_start": 1343,
"cdna_end": null,
"cdna_length": 3646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC5",
"gene_hgnc_id": 25781,
"hgvs_c": "c.799C>G",
"hgvs_p": "p.Arg267Gly",
"transcript": "XM_047434651.1",
"protein_id": "XP_047290607.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 941,
"cds_start": 799,
"cds_end": null,
"cds_length": 2826,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 3631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ARMC5",
"gene_hgnc_id": 25781,
"hgvs_c": "c.210+151C>G",
"hgvs_p": null,
"transcript": "ENST00000564900.1",
"protein_id": "ENSP00000456571.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 597,
"cds_start": -4,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC5",
"gene_hgnc_id": 25781,
"hgvs_c": "n.*577C>G",
"hgvs_p": null,
"transcript": "ENST00000564514.2",
"protein_id": "ENSP00000454430.2",
"transcript_support_level": 4,
"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": 586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ARMC5",
"gene_hgnc_id": 25781,
"dbsnp": "rs369721476",
"frequency_reference_population": 0.0000013715257,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000137153,
"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": 0.6616603136062622,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.258,
"revel_prediction": "Benign",
"alphamissense_score": 0.2423,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.481,
"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": "ENST00000268314.9",
"gene_symbol": "ARMC5",
"hgnc_id": 25781,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.799C>G",
"hgvs_p": "p.Arg267Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}