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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: 14-21000992-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=21000992&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 21000992,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000298681.5",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"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": "SLC39A2",
"gene_hgnc_id": 17127,
"hgvs_c": "c.343T>C",
"hgvs_p": "p.Phe115Leu",
"transcript": "NM_014579.4",
"protein_id": "NP_055394.2",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 309,
"cds_start": 343,
"cds_end": null,
"cds_length": 930,
"cdna_start": 497,
"cdna_end": null,
"cdna_length": 1376,
"mane_select": "ENST00000298681.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"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": "SLC39A2",
"gene_hgnc_id": 17127,
"hgvs_c": "c.343T>C",
"hgvs_p": "p.Phe115Leu",
"transcript": "ENST00000298681.5",
"protein_id": "ENSP00000298681.4",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 309,
"cds_start": 343,
"cds_end": null,
"cds_length": 930,
"cdna_start": 497,
"cdna_end": null,
"cdna_length": 1376,
"mane_select": "NM_014579.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A2",
"gene_hgnc_id": 17127,
"hgvs_c": "c.*80T>C",
"hgvs_p": null,
"transcript": "ENST00000554422.5",
"protein_id": "ENSP00000452568.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 85,
"cds_start": -4,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A2",
"gene_hgnc_id": 17127,
"hgvs_c": "c.*80T>C",
"hgvs_p": null,
"transcript": "NM_001256588.2",
"protein_id": "NP_001243517.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 85,
"cds_start": -4,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258471",
"gene_hgnc_id": null,
"hgvs_c": "n.398-1162A>G",
"hgvs_p": null,
"transcript": "ENST00000647921.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC39A2",
"gene_hgnc_id": 17127,
"dbsnp": "rs2234636",
"frequency_reference_population": 0.3533329,
"hom_count_reference_population": 97895,
"allele_count_reference_population": 539133,
"gnomad_exomes_af": 0.357262,
"gnomad_genomes_af": 0.31783,
"gnomad_exomes_ac": 490807,
"gnomad_genomes_ac": 48326,
"gnomad_exomes_homalt": 89444,
"gnomad_genomes_homalt": 8451,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0002346336841583252,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.109,
"revel_prediction": "Benign",
"alphamissense_score": 0.1223,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.134,
"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": -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": "ENST00000298681.5",
"gene_symbol": "SLC39A2",
"hgnc_id": 17127,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.343T>C",
"hgvs_p": "p.Phe115Leu"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000647921.1",
"gene_symbol": "ENSG00000258471",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.398-1162A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}