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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: 15-49128027-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=49128027&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 49128027,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001143887.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS2",
"gene_hgnc_id": 30747,
"hgvs_c": "c.1255G>A",
"hgvs_p": "p.Ala419Thr",
"transcript": "NM_004236.4",
"protein_id": "NP_004227.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 443,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000388901.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004236.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS2",
"gene_hgnc_id": 30747,
"hgvs_c": "c.1255G>A",
"hgvs_p": "p.Ala419Thr",
"transcript": "ENST00000388901.10",
"protein_id": "ENSP00000373553.5",
"transcript_support_level": 1,
"aa_start": 419,
"aa_end": null,
"aa_length": 443,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004236.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000388901.10"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS2",
"gene_hgnc_id": 30747,
"hgvs_c": "c.1276G>A",
"hgvs_p": "p.Ala426Thr",
"transcript": "ENST00000299259.10",
"protein_id": "ENSP00000299259.6",
"transcript_support_level": 1,
"aa_start": 426,
"aa_end": null,
"aa_length": 450,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299259.10"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS2",
"gene_hgnc_id": 30747,
"hgvs_c": "c.1276G>A",
"hgvs_p": "p.Ala426Thr",
"transcript": "NM_001143887.2",
"protein_id": "NP_001137359.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 450,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143887.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS2",
"gene_hgnc_id": 30747,
"hgvs_c": "c.1273G>A",
"hgvs_p": "p.Ala425Thr",
"transcript": "ENST00000940241.1",
"protein_id": "ENSP00000610300.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 449,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940241.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS2",
"gene_hgnc_id": 30747,
"hgvs_c": "c.1240G>A",
"hgvs_p": "p.Ala414Thr",
"transcript": "ENST00000882491.1",
"protein_id": "ENSP00000552550.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 438,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882491.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS2",
"gene_hgnc_id": 30747,
"hgvs_c": "c.1150G>A",
"hgvs_p": "p.Ala384Thr",
"transcript": "ENST00000882488.1",
"protein_id": "ENSP00000552547.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 408,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882488.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS2",
"gene_hgnc_id": 30747,
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Ala378Thr",
"transcript": "ENST00000882489.1",
"protein_id": "ENSP00000552548.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 402,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882489.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS2",
"gene_hgnc_id": 30747,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Ala377Thr",
"transcript": "ENST00000882490.1",
"protein_id": "ENSP00000552549.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 401,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882490.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS2",
"gene_hgnc_id": 30747,
"hgvs_c": "c.1111G>A",
"hgvs_p": "p.Ala371Thr",
"transcript": "ENST00000882492.1",
"protein_id": "ENSP00000552551.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 395,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882492.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS2",
"gene_hgnc_id": 30747,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Ala355Thr",
"transcript": "ENST00000542928.5",
"protein_id": "ENSP00000443664.1",
"transcript_support_level": 2,
"aa_start": 355,
"aa_end": null,
"aa_length": 379,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542928.5"
},
{
"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": "COPS2",
"gene_hgnc_id": 30747,
"hgvs_c": "n.138+1450G>A",
"hgvs_p": null,
"transcript": "ENST00000560240.5",
"protein_id": "ENSP00000453546.1",
"transcript_support_level": 4,
"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": "ENST00000560240.5"
}
],
"gene_symbol": "COPS2",
"gene_hgnc_id": 30747,
"dbsnp": "rs1369277510",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21399396657943726,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.141,
"revel_prediction": "Benign",
"alphamissense_score": 0.0836,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.013,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001143887.2",
"gene_symbol": "COPS2",
"hgnc_id": 30747,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1276G>A",
"hgvs_p": "p.Ala426Thr"
}
],
"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
}