← Back to variant description
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: 22-40848367-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=40848367&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 40848367,
"ref": "T",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_003932.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST13",
"gene_hgnc_id": 11343,
"hgvs_c": "c.171A>C",
"hgvs_p": "p.Glu57Asp",
"transcript": "NM_003932.5",
"protein_id": "NP_003923.2",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 369,
"cds_start": 171,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 270,
"cdna_end": null,
"cdna_length": 3212,
"mane_select": "ENST00000216218.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003932.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST13",
"gene_hgnc_id": 11343,
"hgvs_c": "c.171A>C",
"hgvs_p": "p.Glu57Asp",
"transcript": "ENST00000216218.8",
"protein_id": "ENSP00000216218.3",
"transcript_support_level": 1,
"aa_start": 57,
"aa_end": null,
"aa_length": 369,
"cds_start": 171,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 270,
"cdna_end": null,
"cdna_length": 3212,
"mane_select": "NM_003932.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216218.8"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST13",
"gene_hgnc_id": 11343,
"hgvs_c": "c.171A>C",
"hgvs_p": "p.Glu57Asp",
"transcript": "ENST00000893870.1",
"protein_id": "ENSP00000563929.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 408,
"cds_start": 171,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 293,
"cdna_end": null,
"cdna_length": 1382,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893870.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST13",
"gene_hgnc_id": 11343,
"hgvs_c": "c.171A>C",
"hgvs_p": "p.Glu57Asp",
"transcript": "ENST00000893867.1",
"protein_id": "ENSP00000563926.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 394,
"cds_start": 171,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 270,
"cdna_end": null,
"cdna_length": 1692,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893867.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST13",
"gene_hgnc_id": 11343,
"hgvs_c": "c.171A>C",
"hgvs_p": "p.Glu57Asp",
"transcript": "ENST00000960885.1",
"protein_id": "ENSP00000630944.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 387,
"cds_start": 171,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 257,
"cdna_end": null,
"cdna_length": 1650,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960885.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST13",
"gene_hgnc_id": 11343,
"hgvs_c": "c.171A>C",
"hgvs_p": "p.Glu57Asp",
"transcript": "ENST00000893864.1",
"protein_id": "ENSP00000563923.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 379,
"cds_start": 171,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 2683,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893864.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST13",
"gene_hgnc_id": 11343,
"hgvs_c": "c.171A>C",
"hgvs_p": "p.Glu57Asp",
"transcript": "ENST00000893862.1",
"protein_id": "ENSP00000563921.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 368,
"cds_start": 171,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 293,
"cdna_end": null,
"cdna_length": 3168,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893862.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST13",
"gene_hgnc_id": 11343,
"hgvs_c": "c.171A>C",
"hgvs_p": "p.Glu57Asp",
"transcript": "ENST00000893865.1",
"protein_id": "ENSP00000563924.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 364,
"cds_start": 171,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 255,
"cdna_end": null,
"cdna_length": 2576,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893865.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST13",
"gene_hgnc_id": 11343,
"hgvs_c": "c.171A>C",
"hgvs_p": "p.Glu57Asp",
"transcript": "ENST00000893863.1",
"protein_id": "ENSP00000563922.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 356,
"cds_start": 171,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 3097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893863.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST13",
"gene_hgnc_id": 11343,
"hgvs_c": "c.171A>C",
"hgvs_p": "p.Glu57Asp",
"transcript": "ENST00000893868.1",
"protein_id": "ENSP00000563927.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 330,
"cds_start": 171,
"cds_end": null,
"cds_length": 993,
"cdna_start": 255,
"cdna_end": null,
"cdna_length": 1480,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893868.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST13",
"gene_hgnc_id": 11343,
"hgvs_c": "c.171A>C",
"hgvs_p": "p.Glu57Asp",
"transcript": "ENST00000893869.1",
"protein_id": "ENSP00000563928.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 247,
"cds_start": 171,
"cds_end": null,
"cds_length": 744,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 1229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893869.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST13",
"gene_hgnc_id": 11343,
"hgvs_c": "c.60A>C",
"hgvs_p": "p.Glu20Asp",
"transcript": "ENST00000411695.1",
"protein_id": "ENSP00000392067.1",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 161,
"cds_start": 60,
"cds_end": null,
"cds_length": 487,
"cdna_start": 122,
"cdna_end": null,
"cdna_length": 549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411695.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST13",
"gene_hgnc_id": 11343,
"hgvs_c": "c.171A>C",
"hgvs_p": "p.Glu57Asp",
"transcript": "ENST00000930430.1",
"protein_id": "ENSP00000600489.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 130,
"cds_start": 171,
"cds_end": null,
"cds_length": 393,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 2437,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930430.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ST13",
"gene_hgnc_id": 11343,
"hgvs_c": "c.169-28A>C",
"hgvs_p": null,
"transcript": "NM_001278589.2",
"protein_id": "NP_001265518.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 359,
"cds_start": null,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3182,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278589.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ST13",
"gene_hgnc_id": 11343,
"hgvs_c": "c.169-28A>C",
"hgvs_p": null,
"transcript": "ENST00000893871.1",
"protein_id": "ENSP00000563930.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 359,
"cds_start": null,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1200,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893871.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ST13",
"gene_hgnc_id": 11343,
"hgvs_c": "c.168+2456A>C",
"hgvs_p": null,
"transcript": "ENST00000893861.1",
"protein_id": "ENSP00000563920.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 320,
"cds_start": null,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3052,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893861.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST13",
"gene_hgnc_id": 11343,
"hgvs_c": "c.110+8064A>C",
"hgvs_p": null,
"transcript": "ENST00000893866.1",
"protein_id": "ENSP00000563925.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 213,
"cds_start": null,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1197,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893866.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ST13",
"gene_hgnc_id": 11343,
"hgvs_c": "c.168+2456A>C",
"hgvs_p": null,
"transcript": "ENST00000930431.1",
"protein_id": "ENSP00000600490.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 198,
"cds_start": null,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1206,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930431.1"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST13",
"gene_hgnc_id": 11343,
"hgvs_c": "n.111-3458A>C",
"hgvs_p": null,
"transcript": "ENST00000455824.1",
"protein_id": "ENSP00000397062.1",
"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": 798,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000455824.1"
}
],
"gene_symbol": "ST13",
"gene_hgnc_id": 11343,
"dbsnp": "rs934552778",
"frequency_reference_population": 6.865142e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.86514e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09735238552093506,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.065,
"revel_prediction": "Benign",
"alphamissense_score": 0.0888,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.203,
"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": 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_003932.5",
"gene_symbol": "ST13",
"hgnc_id": 11343,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.171A>C",
"hgvs_p": "p.Glu57Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}