← Back to variant description
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: 22-45203172-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=45203172&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KIAA0930",
"hgnc_id": 1314,
"hgvs_c": "c.685G>A",
"hgvs_p": "p.Ala229Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_015264.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 46,
"alphamissense_prediction": null,
"alphamissense_score": 0.3255,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0,
"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": "Benign",
"computational_score_selected": 0.011476993560791016,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 404,
"aa_ref": "A",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6338,
"cdna_start": 861,
"cds_end": null,
"cds_length": 1215,
"cds_start": 670,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001009880.2",
"gene_hgnc_id": 1314,
"gene_symbol": "KIAA0930",
"hgvs_c": "c.670G>A",
"hgvs_p": "p.Ala224Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000336156.10",
"protein_coding": true,
"protein_id": "NP_001009880.1",
"strand": false,
"transcript": "NM_001009880.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 404,
"aa_ref": "A",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6338,
"cdna_start": 861,
"cds_end": null,
"cds_length": 1215,
"cds_start": 670,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000336156.10",
"gene_hgnc_id": 1314,
"gene_symbol": "KIAA0930",
"hgvs_c": "c.670G>A",
"hgvs_p": "p.Ala224Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001009880.2",
"protein_coding": true,
"protein_id": "ENSP00000336720.4",
"strand": false,
"transcript": "ENST00000336156.10",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 370,
"aa_ref": "A",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2623,
"cdna_start": 730,
"cds_end": null,
"cds_length": 1113,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000391627.6",
"gene_hgnc_id": 1314,
"gene_symbol": "KIAA0930",
"hgvs_c": "c.568G>A",
"hgvs_p": "p.Ala190Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375485.2",
"strand": false,
"transcript": "ENST00000391627.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2639,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000488038.5",
"gene_hgnc_id": 1314,
"gene_symbol": "KIAA0930",
"hgvs_c": "n.956G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000488038.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 409,
"aa_ref": "A",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6203,
"cdna_start": 726,
"cds_end": null,
"cds_length": 1230,
"cds_start": 685,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_015264.2",
"gene_hgnc_id": 1314,
"gene_symbol": "KIAA0930",
"hgvs_c": "c.685G>A",
"hgvs_p": "p.Ala229Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056079.1",
"strand": false,
"transcript": "NM_015264.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 409,
"aa_ref": "A",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2723,
"cdna_start": 830,
"cds_end": null,
"cds_length": 1230,
"cds_start": 685,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000251993.11",
"gene_hgnc_id": 1314,
"gene_symbol": "KIAA0930",
"hgvs_c": "c.685G>A",
"hgvs_p": "p.Ala229Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000251993.7",
"strand": false,
"transcript": "ENST00000251993.11",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 387,
"aa_ref": "A",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2545,
"cdna_start": 911,
"cds_end": null,
"cds_length": 1164,
"cds_start": 670,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000927183.1",
"gene_hgnc_id": 1314,
"gene_symbol": "KIAA0930",
"hgvs_c": "c.670G>A",
"hgvs_p": "p.Ala224Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597242.1",
"strand": false,
"transcript": "ENST00000927183.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 377,
"aa_ref": "A",
"aa_start": 197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2710,
"cdna_start": 820,
"cds_end": null,
"cds_length": 1134,
"cds_start": 589,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000944329.1",
"gene_hgnc_id": 1314,
"gene_symbol": "KIAA0930",
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Ala197Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614388.1",
"strand": false,
"transcript": "ENST00000944329.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 304,
"aa_ref": "A",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4218,
"cdna_start": 588,
"cds_end": null,
"cds_length": 915,
"cds_start": 370,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000944328.1",
"gene_hgnc_id": 1314,
"gene_symbol": "KIAA0930",
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Ala124Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614387.1",
"strand": false,
"transcript": "ENST00000944328.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 289,
"aa_ref": "A",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2218,
"cdna_start": 325,
"cds_end": null,
"cds_length": 870,
"cds_start": 325,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000423262.5",
"gene_hgnc_id": 1314,
"gene_symbol": "KIAA0930",
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Ala109Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399125.1",
"strand": false,
"transcript": "ENST00000423262.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 387,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2722,
"cdna_start": null,
"cds_end": null,
"cds_length": 1164,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944330.1",
"gene_hgnc_id": 1314,
"gene_symbol": "KIAA0930",
"hgvs_c": "c.658-39G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614389.1",
"strand": false,
"transcript": "ENST00000944330.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 192,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1876,
"cdna_start": null,
"cds_end": null,
"cds_length": 579,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944331.1",
"gene_hgnc_id": 1314,
"gene_symbol": "KIAA0930",
"hgvs_c": "c.217-3137G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614390.1",
"strand": false,
"transcript": "ENST00000944331.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 821,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000440039.5",
"gene_hgnc_id": 1314,
"gene_symbol": "KIAA0930",
"hgvs_c": "n.*567G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000402514.1",
"strand": false,
"transcript": "ENST00000440039.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 821,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000440039.5",
"gene_hgnc_id": 1314,
"gene_symbol": "KIAA0930",
"hgvs_c": "n.*567G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000402514.1",
"strand": false,
"transcript": "ENST00000440039.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs751295257",
"effect": "missense_variant",
"frequency_reference_population": 0.000028715864,
"gene_hgnc_id": 1314,
"gene_symbol": "KIAA0930",
"gnomad_exomes_ac": 21,
"gnomad_exomes_af": 0.0000144855,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 25,
"gnomad_genomes_af": 0.000164283,
"gnomad_genomes_homalt": 0,
"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": 7.413,
"pos": 45203172,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.197,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_015264.2"
}
]
}