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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: 22-16784304-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=16784304&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 16784304,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000684488.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XKR3",
"gene_hgnc_id": 28778,
"hgvs_c": "c.695C>T",
"hgvs_p": "p.Pro232Leu",
"transcript": "NM_001386955.1",
"protein_id": "NP_001373884.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 459,
"cds_start": 695,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 826,
"cdna_end": null,
"cdna_length": 1650,
"mane_select": "ENST00000684488.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XKR3",
"gene_hgnc_id": 28778,
"hgvs_c": "c.695C>T",
"hgvs_p": "p.Pro232Leu",
"transcript": "ENST00000684488.1",
"protein_id": "ENSP00000507478.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 459,
"cds_start": 695,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 826,
"cdna_end": null,
"cdna_length": 1650,
"mane_select": "NM_001386955.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XKR3",
"gene_hgnc_id": 28778,
"hgvs_c": "c.695C>T",
"hgvs_p": "p.Pro232Leu",
"transcript": "ENST00000331428.5",
"protein_id": "ENSP00000331704.5",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 459,
"cds_start": 695,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 798,
"cdna_end": null,
"cdna_length": 1690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XKR3",
"gene_hgnc_id": 28778,
"hgvs_c": "c.695C>T",
"hgvs_p": "p.Pro232Leu",
"transcript": "NM_001318251.3",
"protein_id": "NP_001305180.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 459,
"cds_start": 695,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 801,
"cdna_end": null,
"cdna_length": 1625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XKR3",
"gene_hgnc_id": 28778,
"hgvs_c": "c.695C>T",
"hgvs_p": "p.Pro232Leu",
"transcript": "NM_001386956.1",
"protein_id": "NP_001373885.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 459,
"cds_start": 695,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 1591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XKR3",
"gene_hgnc_id": 28778,
"hgvs_c": "c.695C>T",
"hgvs_p": "p.Pro232Leu",
"transcript": "NM_001386957.1",
"protein_id": "NP_001373886.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 459,
"cds_start": 695,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 2045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XKR3",
"gene_hgnc_id": 28778,
"hgvs_c": "c.695C>T",
"hgvs_p": "p.Pro232Leu",
"transcript": "NM_175878.5",
"protein_id": "NP_787074.2",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 459,
"cds_start": 695,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 798,
"cdna_end": null,
"cdna_length": 1622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XKR3",
"gene_hgnc_id": 28778,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Pro89Leu",
"transcript": "XM_047441151.1",
"protein_id": "XP_047297107.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 316,
"cds_start": 266,
"cds_end": null,
"cds_length": 951,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 1313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "XKR3",
"gene_hgnc_id": 28778,
"dbsnp": "rs9605146",
"frequency_reference_population": 0.37861878,
"hom_count_reference_population": 117528,
"allele_count_reference_population": 610965,
"gnomad_exomes_af": 0.377605,
"gnomad_genomes_af": 0.388364,
"gnomad_exomes_ac": 551915,
"gnomad_genomes_ac": 59050,
"gnomad_exomes_homalt": 105745,
"gnomad_genomes_homalt": 11783,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005919933319091797,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.135,
"revel_prediction": "Benign",
"alphamissense_score": 0.104,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.623,
"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": "ENST00000684488.1",
"gene_symbol": "XKR3",
"hgnc_id": 28778,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.695C>T",
"hgvs_p": "p.Pro232Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}