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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: 22-45199950-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=45199950&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 45199950,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015264.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0930",
"gene_hgnc_id": 1314,
"hgvs_c": "c.938G>A",
"hgvs_p": "p.Arg313Gln",
"transcript": "NM_001009880.2",
"protein_id": "NP_001009880.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 404,
"cds_start": 938,
"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": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0930",
"gene_hgnc_id": 1314,
"hgvs_c": "c.938G>A",
"hgvs_p": "p.Arg313Gln",
"transcript": "ENST00000336156.10",
"protein_id": "ENSP00000336720.4",
"transcript_support_level": 1,
"aa_start": 313,
"aa_end": null,
"aa_length": 404,
"cds_start": 938,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0930",
"gene_hgnc_id": 1314,
"hgvs_c": "c.836G>A",
"hgvs_p": "p.Arg279Gln",
"transcript": "ENST00000391627.6",
"protein_id": "ENSP00000375485.2",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 370,
"cds_start": 836,
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0930",
"gene_hgnc_id": 1314,
"hgvs_c": "n.1224G>A",
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0930",
"gene_hgnc_id": 1314,
"hgvs_c": "n.260G>A",
"hgvs_p": null,
"transcript": "ENST00000498418.5",
"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": "ENST00000498418.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0930",
"gene_hgnc_id": 1314,
"hgvs_c": "c.953G>A",
"hgvs_p": "p.Arg318Gln",
"transcript": "NM_015264.2",
"protein_id": "NP_056079.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 409,
"cds_start": 953,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0930",
"gene_hgnc_id": 1314,
"hgvs_c": "c.953G>A",
"hgvs_p": "p.Arg318Gln",
"transcript": "ENST00000251993.11",
"protein_id": "ENSP00000251993.7",
"transcript_support_level": 2,
"aa_start": 318,
"aa_end": null,
"aa_length": 409,
"cds_start": 953,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0930",
"gene_hgnc_id": 1314,
"hgvs_c": "c.938G>A",
"hgvs_p": "p.Arg313Gln",
"transcript": "ENST00000927183.1",
"protein_id": "ENSP00000597242.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 387,
"cds_start": 938,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0930",
"gene_hgnc_id": 1314,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Gln",
"transcript": "ENST00000944330.1",
"protein_id": "ENSP00000614389.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 387,
"cds_start": 887,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0930",
"gene_hgnc_id": 1314,
"hgvs_c": "c.857G>A",
"hgvs_p": "p.Arg286Gln",
"transcript": "ENST00000944329.1",
"protein_id": "ENSP00000614388.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 377,
"cds_start": 857,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0930",
"gene_hgnc_id": 1314,
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Arg213Gln",
"transcript": "ENST00000944328.1",
"protein_id": "ENSP00000614387.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 304,
"cds_start": 638,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0930",
"gene_hgnc_id": 1314,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Arg198Gln",
"transcript": "ENST00000423262.5",
"protein_id": "ENSP00000399125.1",
"transcript_support_level": 2,
"aa_start": 198,
"aa_end": null,
"aa_length": 289,
"cds_start": 593,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0930",
"gene_hgnc_id": 1314,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Arg101Gln",
"transcript": "ENST00000944331.1",
"protein_id": "ENSP00000614390.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 192,
"cds_start": 302,
"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": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0930",
"gene_hgnc_id": 1314,
"hgvs_c": "n.177G>A",
"hgvs_p": null,
"transcript": "ENST00000474515.5",
"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": "ENST00000474515.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0930",
"gene_hgnc_id": 1314,
"hgvs_c": "n.239G>A",
"hgvs_p": null,
"transcript": "ENST00000493003.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000493003.1"
}
],
"gene_symbol": "KIAA0930",
"gene_hgnc_id": 1314,
"dbsnp": "rs376273127",
"frequency_reference_population": 0.0000142851995,
"hom_count_reference_population": 0,
"allele_count_reference_population": 23,
"gnomad_exomes_af": 0.0000144042,
"gnomad_genomes_af": 0.0000131453,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21989834308624268,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.155,
"revel_prediction": "Benign",
"alphamissense_score": 0.1063,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.391,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015264.2",
"gene_symbol": "KIAA0930",
"hgnc_id": 1314,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.953G>A",
"hgvs_p": "p.Arg318Gln"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}