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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: 22-38481456-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=38481456&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 38481456,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_016657.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "G",
"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": "KDELR3",
"gene_hgnc_id": 6306,
"hgvs_c": "c.596T>G",
"hgvs_p": "p.Val199Gly",
"transcript": "NM_006855.4",
"protein_id": "NP_006846.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 214,
"cds_start": 596,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000216014.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006855.4"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": true,
"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": "KDELR3",
"gene_hgnc_id": 6306,
"hgvs_c": "c.596T>G",
"hgvs_p": "p.Val199Gly",
"transcript": "ENST00000216014.9",
"protein_id": "ENSP00000216014.4",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 214,
"cds_start": 596,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006855.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216014.9"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDELR3",
"gene_hgnc_id": 6306,
"hgvs_c": "c.596T>G",
"hgvs_p": "p.Val199Gly",
"transcript": "ENST00000409006.3",
"protein_id": "ENSP00000386918.3",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 220,
"cds_start": 596,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409006.3"
},
{
"aa_ref": "V",
"aa_alt": "G",
"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": "KDELR3",
"gene_hgnc_id": 6306,
"hgvs_c": "c.677T>G",
"hgvs_p": "p.Val226Gly",
"transcript": "ENST00000943543.1",
"protein_id": "ENSP00000613602.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 241,
"cds_start": 677,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943543.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDELR3",
"gene_hgnc_id": 6306,
"hgvs_c": "c.596T>G",
"hgvs_p": "p.Val199Gly",
"transcript": "NM_016657.3",
"protein_id": "NP_057839.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 220,
"cds_start": 596,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016657.3"
},
{
"aa_ref": "V",
"aa_alt": "G",
"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": "KDELR3",
"gene_hgnc_id": 6306,
"hgvs_c": "c.587T>G",
"hgvs_p": "p.Val196Gly",
"transcript": "ENST00000943544.1",
"protein_id": "ENSP00000613603.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 211,
"cds_start": 587,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943544.1"
},
{
"aa_ref": "V",
"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": "KDELR3",
"gene_hgnc_id": 6306,
"hgvs_c": "c.437T>G",
"hgvs_p": "p.Val146Gly",
"transcript": "ENST00000862991.1",
"protein_id": "ENSP00000533050.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 161,
"cds_start": 437,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862991.1"
},
{
"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": "KDELR3",
"gene_hgnc_id": 6306,
"hgvs_c": "n.535T>G",
"hgvs_p": null,
"transcript": "ENST00000471268.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000471268.1"
}
],
"gene_symbol": "KDELR3",
"gene_hgnc_id": 6306,
"dbsnp": "rs12004",
"frequency_reference_population": 0.29391435,
"hom_count_reference_population": 71264,
"allele_count_reference_population": 474279,
"gnomad_exomes_af": 0.296221,
"gnomad_genomes_af": 0.271737,
"gnomad_exomes_ac": 432963,
"gnomad_genomes_ac": 41316,
"gnomad_exomes_homalt": 65355,
"gnomad_genomes_homalt": 5909,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0016810595989227295,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.486,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2769,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.017,
"phylop100way_prediction": "Pathogenic",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_016657.3",
"gene_symbol": "KDELR3",
"hgnc_id": 6306,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.596T>G",
"hgvs_p": "p.Val199Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}