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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: 22-45203111-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=45203111&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 45203111,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015264.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0930",
"gene_hgnc_id": 1314,
"hgvs_c": "c.731G>T",
"hgvs_p": "p.Arg244Leu",
"transcript": "NM_001009880.2",
"protein_id": "NP_001009880.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 404,
"cds_start": 731,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000336156.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001009880.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0930",
"gene_hgnc_id": 1314,
"hgvs_c": "c.731G>T",
"hgvs_p": "p.Arg244Leu",
"transcript": "ENST00000336156.10",
"protein_id": "ENSP00000336720.4",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 404,
"cds_start": 731,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001009880.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336156.10"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0930",
"gene_hgnc_id": 1314,
"hgvs_c": "c.629G>T",
"hgvs_p": "p.Arg210Leu",
"transcript": "ENST00000391627.6",
"protein_id": "ENSP00000375485.2",
"transcript_support_level": 1,
"aa_start": 210,
"aa_end": null,
"aa_length": 370,
"cds_start": 629,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391627.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0930",
"gene_hgnc_id": 1314,
"hgvs_c": "n.1017G>T",
"hgvs_p": null,
"transcript": "ENST00000488038.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000488038.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0930",
"gene_hgnc_id": 1314,
"hgvs_c": "c.746G>T",
"hgvs_p": "p.Arg249Leu",
"transcript": "NM_015264.2",
"protein_id": "NP_056079.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 409,
"cds_start": 746,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015264.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0930",
"gene_hgnc_id": 1314,
"hgvs_c": "c.746G>T",
"hgvs_p": "p.Arg249Leu",
"transcript": "ENST00000251993.11",
"protein_id": "ENSP00000251993.7",
"transcript_support_level": 2,
"aa_start": 249,
"aa_end": null,
"aa_length": 409,
"cds_start": 746,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000251993.11"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0930",
"gene_hgnc_id": 1314,
"hgvs_c": "c.731G>T",
"hgvs_p": "p.Arg244Leu",
"transcript": "ENST00000927183.1",
"protein_id": "ENSP00000597242.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 387,
"cds_start": 731,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927183.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0930",
"gene_hgnc_id": 1314,
"hgvs_c": "c.680G>T",
"hgvs_p": "p.Arg227Leu",
"transcript": "ENST00000944330.1",
"protein_id": "ENSP00000614389.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 387,
"cds_start": 680,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944330.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0930",
"gene_hgnc_id": 1314,
"hgvs_c": "c.650G>T",
"hgvs_p": "p.Arg217Leu",
"transcript": "ENST00000944329.1",
"protein_id": "ENSP00000614388.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 377,
"cds_start": 650,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944329.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0930",
"gene_hgnc_id": 1314,
"hgvs_c": "c.431G>T",
"hgvs_p": "p.Arg144Leu",
"transcript": "ENST00000944328.1",
"protein_id": "ENSP00000614387.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 304,
"cds_start": 431,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944328.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0930",
"gene_hgnc_id": 1314,
"hgvs_c": "c.386G>T",
"hgvs_p": "p.Arg129Leu",
"transcript": "ENST00000423262.5",
"protein_id": "ENSP00000399125.1",
"transcript_support_level": 2,
"aa_start": 129,
"aa_end": null,
"aa_length": 289,
"cds_start": 386,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423262.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KIAA0930",
"gene_hgnc_id": 1314,
"hgvs_c": "c.217-3076G>T",
"hgvs_p": null,
"transcript": "ENST00000944331.1",
"protein_id": "ENSP00000614390.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": null,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944331.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0930",
"gene_hgnc_id": 1314,
"hgvs_c": "n.*628G>T",
"hgvs_p": null,
"transcript": "ENST00000440039.5",
"protein_id": "ENSP00000402514.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000440039.5"
}
],
"gene_symbol": "KIAA0930",
"gene_hgnc_id": 1314,
"dbsnp": "rs369518786",
"frequency_reference_population": 0.0000075269877,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000752699,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9671226739883423,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.736,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9386,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.38,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.444,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_015264.2",
"gene_symbol": "KIAA0930",
"hgnc_id": 1314,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.746G>T",
"hgvs_p": "p.Arg249Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}