← 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: 4-55953174-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=55953174&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 55953174,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_025009.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP135",
"gene_hgnc_id": 29086,
"hgvs_c": "c.203T>C",
"hgvs_p": "p.Leu68Ser",
"transcript": "NM_025009.5",
"protein_id": "NP_079285.2",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 1140,
"cds_start": 203,
"cds_end": null,
"cds_length": 3423,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 5596,
"mane_select": "ENST00000257287.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025009.5"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP135",
"gene_hgnc_id": 29086,
"hgvs_c": "c.203T>C",
"hgvs_p": "p.Leu68Ser",
"transcript": "ENST00000257287.5",
"protein_id": "ENSP00000257287.3",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 1140,
"cds_start": 203,
"cds_end": null,
"cds_length": 3423,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 5596,
"mane_select": "NM_025009.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000257287.5"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP135",
"gene_hgnc_id": 29086,
"hgvs_c": "c.203T>C",
"hgvs_p": "p.Leu68Ser",
"transcript": "ENST00000916105.1",
"protein_id": "ENSP00000586164.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 1191,
"cds_start": 203,
"cds_end": null,
"cds_length": 3576,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 5781,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916105.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP135",
"gene_hgnc_id": 29086,
"hgvs_c": "c.203T>C",
"hgvs_p": "p.Leu68Ser",
"transcript": "ENST00000916104.1",
"protein_id": "ENSP00000586163.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 1129,
"cds_start": 203,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 5651,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916104.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP135",
"gene_hgnc_id": 29086,
"hgvs_c": "c.203T>C",
"hgvs_p": "p.Leu68Ser",
"transcript": "ENST00000916107.1",
"protein_id": "ENSP00000586166.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 1118,
"cds_start": 203,
"cds_end": null,
"cds_length": 3357,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 5405,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916107.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP135",
"gene_hgnc_id": 29086,
"hgvs_c": "c.203T>C",
"hgvs_p": "p.Leu68Ser",
"transcript": "ENST00000916106.1",
"protein_id": "ENSP00000586165.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 1097,
"cds_start": 203,
"cds_end": null,
"cds_length": 3294,
"cdna_start": 391,
"cdna_end": null,
"cdna_length": 5494,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916106.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP135",
"gene_hgnc_id": 29086,
"hgvs_c": "c.203T>C",
"hgvs_p": "p.Leu68Ser",
"transcript": "ENST00000422247.6",
"protein_id": "ENSP00000412799.2",
"transcript_support_level": 2,
"aa_start": 68,
"aa_end": null,
"aa_length": 249,
"cds_start": 203,
"cds_end": null,
"cds_length": 750,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 2092,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422247.6"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP135",
"gene_hgnc_id": 29086,
"hgvs_c": "c.203T>C",
"hgvs_p": "p.Leu68Ser",
"transcript": "XM_006714055.4",
"protein_id": "XP_006714118.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 1129,
"cds_start": 203,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 5563,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714055.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP135",
"gene_hgnc_id": 29086,
"hgvs_c": "n.376T>C",
"hgvs_p": null,
"transcript": "ENST00000706800.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4290,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000706800.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC124900705",
"gene_hgnc_id": null,
"hgvs_c": "n.198-703A>G",
"hgvs_p": null,
"transcript": "XR_007058124.1",
"protein_id": null,
"transcript_support_level": null,
"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": 278,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007058124.1"
}
],
"gene_symbol": "CEP135",
"gene_hgnc_id": 29086,
"dbsnp": "rs147697562",
"frequency_reference_population": 0.00007583207,
"hom_count_reference_population": 0,
"allele_count_reference_population": 122,
"gnomad_exomes_af": 0.0000734662,
"gnomad_genomes_af": 0.0000984472,
"gnomad_exomes_ac": 107,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.024804621934890747,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.253,
"revel_prediction": "Benign",
"alphamissense_score": 0.4462,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.862,
"phylop100way_prediction": "Pathogenic",
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_025009.5",
"gene_symbol": "CEP135",
"hgnc_id": 29086,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.203T>C",
"hgvs_p": "p.Leu68Ser"
},
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "XR_007058124.1",
"gene_symbol": "LOC124900705",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.198-703A>G",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}