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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: 20-46022943-G-GGGAGGAGGAGGAGGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=46022943&ref=G&alt=GGGAGGAGGAGGAGGA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 46022943,
"ref": "G",
"alt": "GGGAGGAGGAGGAGGA",
"effect": "intron_variant",
"transcript": "NM_001134771.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "GGGGGR",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A5",
"gene_hgnc_id": 13818,
"hgvs_c": "c.241_255dupGGAGGAGGAGGAGGA",
"hgvs_p": "p.Gly81_Gly85dup",
"transcript": "ENST00000626701.1",
"protein_id": "ENSP00000487372.1",
"transcript_support_level": 3,
"aa_start": 86,
"aa_end": null,
"aa_length": 120,
"cds_start": 256,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000626701.1"
},
{
"aa_ref": "R",
"aa_alt": "GGGGGR",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A5",
"gene_hgnc_id": 13818,
"hgvs_c": "c.79_93dupGGAGGAGGAGGAGGA",
"hgvs_p": "p.Gly27_Gly31dup",
"transcript": "ENST00000413737.2",
"protein_id": "ENSP00000487291.1",
"transcript_support_level": 3,
"aa_start": 32,
"aa_end": null,
"aa_length": 66,
"cds_start": 94,
"cds_end": null,
"cds_length": 201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413737.2"
},
{
"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": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC12A5",
"gene_hgnc_id": 13818,
"hgvs_c": "c.121+1076_121+1090dupGGAGGAGGAGGAGGA",
"hgvs_p": null,
"transcript": "NM_001134771.2",
"protein_id": "NP_001128243.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1139,
"cds_start": null,
"cds_end": null,
"cds_length": 3420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134771.2"
},
{
"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": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC12A5",
"gene_hgnc_id": 13818,
"hgvs_c": "c.121+1076_121+1090dupGGAGGAGGAGGAGGA",
"hgvs_p": null,
"transcript": "ENST00000454036.6",
"protein_id": "ENSP00000387694.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1139,
"cds_start": null,
"cds_end": null,
"cds_length": 3420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454036.6"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC12A5",
"gene_hgnc_id": 13818,
"hgvs_c": "c.122-407_122-393dupGGAGGAGGAGGAGGA",
"hgvs_p": null,
"transcript": "ENST00000628272.1",
"protein_id": "ENSP00000486382.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 53,
"cds_start": null,
"cds_end": null,
"cds_length": 162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000628272.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A5",
"gene_hgnc_id": 13818,
"hgvs_c": "n.254_268dupGGAGGAGGAGGAGGA",
"hgvs_p": null,
"transcript": "ENST00000626695.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000626695.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC12A5",
"gene_hgnc_id": 13818,
"hgvs_c": "n.111+1076_111+1090dupGGAGGAGGAGGAGGA",
"hgvs_p": null,
"transcript": "ENST00000428198.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000428198.1"
}
],
"gene_symbol": "SLC12A5",
"gene_hgnc_id": 13818,
"dbsnp": "rs34923327",
"frequency_reference_population": 0.00807865,
"hom_count_reference_population": 21,
"allele_count_reference_population": 2941,
"gnomad_exomes_af": 0.00871797,
"gnomad_genomes_af": 0.00679242,
"gnomad_exomes_ac": 2120,
"gnomad_genomes_ac": 821,
"gnomad_exomes_homalt": 14,
"gnomad_genomes_homalt": 7,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.07,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001134771.2",
"gene_symbol": "SLC12A5",
"hgnc_id": 13818,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.121+1076_121+1090dupGGAGGAGGAGGAGGA",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}