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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: 19-12747530-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=12747530&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 12747530,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004317.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GET3",
"gene_hgnc_id": 752,
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Pro285Ser",
"transcript": "NM_004317.4",
"protein_id": "NP_004308.2",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 348,
"cds_start": 853,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357332.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004317.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GET3",
"gene_hgnc_id": 752,
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Pro285Ser",
"transcript": "ENST00000357332.8",
"protein_id": "ENSP00000349887.3",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 348,
"cds_start": 853,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004317.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357332.8"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GET3",
"gene_hgnc_id": 752,
"hgvs_c": "c.994C>T",
"hgvs_p": "p.Pro332Ser",
"transcript": "ENST00000935719.1",
"protein_id": "ENSP00000605778.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 395,
"cds_start": 994,
"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": "ENST00000935719.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GET3",
"gene_hgnc_id": 752,
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Pro285Ser",
"transcript": "NM_001371488.1",
"protein_id": "NP_001358417.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 348,
"cds_start": 853,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371488.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GET3",
"gene_hgnc_id": 752,
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Pro285Ser",
"transcript": "NM_001371489.1",
"protein_id": "NP_001358418.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 348,
"cds_start": 853,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371489.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GET3",
"gene_hgnc_id": 752,
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Pro285Ser",
"transcript": "ENST00000591090.5",
"protein_id": "ENSP00000466379.1",
"transcript_support_level": 5,
"aa_start": 285,
"aa_end": null,
"aa_length": 348,
"cds_start": 853,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591090.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GET3",
"gene_hgnc_id": 752,
"hgvs_c": "c.850C>T",
"hgvs_p": "p.Pro284Ser",
"transcript": "ENST00000904142.1",
"protein_id": "ENSP00000574201.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 347,
"cds_start": 850,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904142.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GET3",
"gene_hgnc_id": 752,
"hgvs_c": "c.850C>T",
"hgvs_p": "p.Pro284Ser",
"transcript": "ENST00000935716.1",
"protein_id": "ENSP00000605775.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 347,
"cds_start": 850,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935716.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GET3",
"gene_hgnc_id": 752,
"hgvs_c": "c.847C>T",
"hgvs_p": "p.Pro283Ser",
"transcript": "ENST00000904141.1",
"protein_id": "ENSP00000574200.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 346,
"cds_start": 847,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904141.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GET3",
"gene_hgnc_id": 752,
"hgvs_c": "c.847C>T",
"hgvs_p": "p.Pro283Ser",
"transcript": "ENST00000935714.1",
"protein_id": "ENSP00000605773.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 346,
"cds_start": 847,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935714.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GET3",
"gene_hgnc_id": 752,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Pro271Ser",
"transcript": "ENST00000935720.1",
"protein_id": "ENSP00000605779.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 334,
"cds_start": 811,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935720.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GET3",
"gene_hgnc_id": 752,
"hgvs_c": "c.733C>T",
"hgvs_p": "p.Pro245Ser",
"transcript": "ENST00000935721.1",
"protein_id": "ENSP00000605780.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 308,
"cds_start": 733,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935721.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GET3",
"gene_hgnc_id": 752,
"hgvs_c": "c.694C>T",
"hgvs_p": "p.Pro232Ser",
"transcript": "ENST00000935715.1",
"protein_id": "ENSP00000605774.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 295,
"cds_start": 694,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935715.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GET3",
"gene_hgnc_id": 752,
"hgvs_c": "c.553C>T",
"hgvs_p": "p.Pro185Ser",
"transcript": "ENST00000904140.1",
"protein_id": "ENSP00000574199.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 248,
"cds_start": 553,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904140.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "GET3",
"gene_hgnc_id": 752,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Pro149Ser",
"transcript": "ENST00000935717.1",
"protein_id": "ENSP00000605776.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 212,
"cds_start": 445,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935717.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "GET3",
"gene_hgnc_id": 752,
"hgvs_c": "c.283C>T",
"hgvs_p": "p.Pro95Ser",
"transcript": "ENST00000935722.1",
"protein_id": "ENSP00000605781.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 158,
"cds_start": 283,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935722.1"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "GET3",
"gene_hgnc_id": 752,
"hgvs_c": "c.828+25C>T",
"hgvs_p": null,
"transcript": "ENST00000935718.1",
"protein_id": "ENSP00000605777.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 294,
"cds_start": null,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935718.1"
}
],
"gene_symbol": "GET3",
"gene_hgnc_id": 752,
"dbsnp": "rs1016608810",
"frequency_reference_population": 0.0000061566834,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000615668,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09497231245040894,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.088,
"revel_prediction": "Benign",
"alphamissense_score": 0.0827,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.899,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 2,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004317.4",
"gene_symbol": "GET3",
"hgnc_id": 752,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Pro285Ser"
}
],
"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
}