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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: 22-25028049-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=25028049&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KIAA1671",
"hgnc_id": 29345,
"hgvs_c": "c.50C>A",
"hgvs_p": "p.Pro17Gln",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001386930.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.2726,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.03,
"chr": "22",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6655929684638977,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1806,
"aa_ref": "P",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10732,
"cdna_start": 314,
"cds_end": null,
"cds_length": 5421,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001145206.2",
"gene_hgnc_id": 29345,
"gene_symbol": "KIAA1671",
"hgvs_c": "c.50C>A",
"hgvs_p": "p.Pro17Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000358431.8",
"protein_coding": true,
"protein_id": "NP_001138678.1",
"strand": true,
"transcript": "NM_001145206.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1806,
"aa_ref": "P",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10732,
"cdna_start": 314,
"cds_end": null,
"cds_length": 5421,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000358431.8",
"gene_hgnc_id": 29345,
"gene_symbol": "KIAA1671",
"hgvs_c": "c.50C>A",
"hgvs_p": "p.Pro17Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001145206.2",
"protein_coding": true,
"protein_id": "ENSP00000351207.3",
"strand": true,
"transcript": "ENST00000358431.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1807,
"aa_ref": "P",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5996,
"cdna_start": 314,
"cds_end": null,
"cds_length": 5424,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001386930.1",
"gene_hgnc_id": 29345,
"gene_symbol": "KIAA1671",
"hgvs_c": "c.50C>A",
"hgvs_p": "p.Pro17Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373859.1",
"strand": true,
"transcript": "NM_001386930.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1806,
"aa_ref": "P",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10713,
"cdna_start": 295,
"cds_end": null,
"cds_length": 5421,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001386932.1",
"gene_hgnc_id": 29345,
"gene_symbol": "KIAA1671",
"hgvs_c": "c.50C>A",
"hgvs_p": "p.Pro17Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373861.1",
"strand": true,
"transcript": "NM_001386932.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1806,
"aa_ref": "P",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10869,
"cdna_start": 451,
"cds_end": null,
"cds_length": 5421,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001386933.1",
"gene_hgnc_id": 29345,
"gene_symbol": "KIAA1671",
"hgvs_c": "c.50C>A",
"hgvs_p": "p.Pro17Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373862.1",
"strand": true,
"transcript": "NM_001386933.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1806,
"aa_ref": "P",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7864,
"cdna_start": 437,
"cds_end": null,
"cds_length": 5421,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000406486.8",
"gene_hgnc_id": 29345,
"gene_symbol": "KIAA1671",
"hgvs_c": "c.50C>A",
"hgvs_p": "p.Pro17Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385152.3",
"strand": true,
"transcript": "ENST00000406486.8",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1806,
"aa_ref": "P",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10870,
"cdna_start": 452,
"cds_end": null,
"cds_length": 5421,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000910712.1",
"gene_hgnc_id": 29345,
"gene_symbol": "KIAA1671",
"hgvs_c": "c.50C>A",
"hgvs_p": "p.Pro17Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580771.1",
"strand": true,
"transcript": "ENST00000910712.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1806,
"aa_ref": "P",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6237,
"cdna_start": 166,
"cds_end": null,
"cds_length": 5421,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000910713.1",
"gene_hgnc_id": 29345,
"gene_symbol": "KIAA1671",
"hgvs_c": "c.50C>A",
"hgvs_p": "p.Pro17Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580772.1",
"strand": true,
"transcript": "ENST00000910713.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1806,
"aa_ref": "P",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10865,
"cdna_start": 447,
"cds_end": null,
"cds_length": 5421,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_006724346.3",
"gene_hgnc_id": 29345,
"gene_symbol": "KIAA1671",
"hgvs_c": "c.50C>A",
"hgvs_p": "p.Pro17Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006724409.1",
"strand": true,
"transcript": "XM_006724346.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1806,
"aa_ref": "P",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10785,
"cdna_start": 367,
"cds_end": null,
"cds_length": 5421,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047441556.1",
"gene_hgnc_id": 29345,
"gene_symbol": "KIAA1671",
"hgvs_c": "c.50C>A",
"hgvs_p": "p.Pro17Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297512.1",
"strand": true,
"transcript": "XM_047441556.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1926047296",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 29345,
"gene_symbol": "KIAA1671",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.173,
"pos": 25028049,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.563,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001386930.1"
}
]
}