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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: 19-15652930-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=15652930&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 15652930,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000221307.13",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F3",
"gene_hgnc_id": 2646,
"hgvs_c": "c.1093C>T",
"hgvs_p": "p.Arg365Cys",
"transcript": "NM_000896.3",
"protein_id": "NP_000887.2",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 520,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 5053,
"mane_select": "ENST00000221307.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F3",
"gene_hgnc_id": 2646,
"hgvs_c": "c.1093C>T",
"hgvs_p": "p.Arg365Cys",
"transcript": "ENST00000221307.13",
"protein_id": "ENSP00000221307.6",
"transcript_support_level": 1,
"aa_start": 365,
"aa_end": null,
"aa_length": 520,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 5053,
"mane_select": "NM_000896.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F3",
"gene_hgnc_id": 2646,
"hgvs_c": "c.1093C>T",
"hgvs_p": "p.Arg365Cys",
"transcript": "ENST00000585846.1",
"protein_id": "ENSP00000468105.1",
"transcript_support_level": 1,
"aa_start": 365,
"aa_end": null,
"aa_length": 520,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1200,
"cdna_end": null,
"cdna_length": 2056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F3",
"gene_hgnc_id": 2646,
"hgvs_c": "c.1093C>T",
"hgvs_p": "p.Arg365Cys",
"transcript": "ENST00000591058.5",
"protein_id": "ENSP00000466988.1",
"transcript_support_level": 1,
"aa_start": 365,
"aa_end": null,
"aa_length": 520,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1140,
"cdna_end": null,
"cdna_length": 2983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F3",
"gene_hgnc_id": 2646,
"hgvs_c": "c.1093C>T",
"hgvs_p": "p.Arg365Cys",
"transcript": "NM_001199208.2",
"protein_id": "NP_001186137.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 520,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 5053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F3",
"gene_hgnc_id": 2646,
"hgvs_c": "c.1093C>T",
"hgvs_p": "p.Arg365Cys",
"transcript": "NM_001199209.2",
"protein_id": "NP_001186138.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 520,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1127,
"cdna_end": null,
"cdna_length": 5037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F3",
"gene_hgnc_id": 2646,
"hgvs_c": "c.1093C>T",
"hgvs_p": "p.Arg365Cys",
"transcript": "NM_001369696.1",
"protein_id": "NP_001356625.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 520,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 5107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F3",
"gene_hgnc_id": 2646,
"hgvs_c": "c.1093C>T",
"hgvs_p": "p.Arg365Cys",
"transcript": "ENST00000586182.6",
"protein_id": "ENSP00000466395.1",
"transcript_support_level": 2,
"aa_start": 365,
"aa_end": null,
"aa_length": 520,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1127,
"cdna_end": null,
"cdna_length": 2338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F3",
"gene_hgnc_id": 2646,
"hgvs_c": "c.1093C>T",
"hgvs_p": "p.Arg365Cys",
"transcript": "XM_017026815.2",
"protein_id": "XP_016882304.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 391,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 1307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F3",
"gene_hgnc_id": 2646,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "XM_011528014.4",
"protein_id": "XP_011526316.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 371,
"cds_start": 646,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 4830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F3",
"gene_hgnc_id": 2646,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "XM_047438840.1",
"protein_id": "XP_047294796.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 371,
"cds_start": 646,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 5053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F3",
"gene_hgnc_id": 2646,
"hgvs_c": "n.1234C>T",
"hgvs_p": null,
"transcript": "ENST00000592279.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F3",
"gene_hgnc_id": 2646,
"hgvs_c": "n.*261C>T",
"hgvs_p": null,
"transcript": "ENST00000592424.1",
"protein_id": "ENSP00000476546.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F3",
"gene_hgnc_id": 2646,
"hgvs_c": "n.*261C>T",
"hgvs_p": null,
"transcript": "ENST00000592424.1",
"protein_id": "ENSP00000476546.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CYP4F3",
"gene_hgnc_id": 2646,
"dbsnp": "rs753746588",
"frequency_reference_population": 0.0000068553345,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000685533,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7296433448791504,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.418,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1198,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.936,
"phylop100way_prediction": "Benign",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000221307.13",
"gene_symbol": "CYP4F3",
"hgnc_id": 2646,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1093C>T",
"hgvs_p": "p.Arg365Cys"
}
],
"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
}