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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: 11-61873865-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61873865&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 61873865,
"ref": "C",
"alt": "T",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "ENST00000278829.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FADS3",
"gene_hgnc_id": 3576,
"hgvs_c": "c.1287G>A",
"hgvs_p": "p.Arg429Arg",
"transcript": "NM_021727.5",
"protein_id": "NP_068373.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 445,
"cds_start": 1287,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 1790,
"mane_select": "ENST00000278829.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FADS3",
"gene_hgnc_id": 3576,
"hgvs_c": "c.1287G>A",
"hgvs_p": "p.Arg429Arg",
"transcript": "ENST00000278829.7",
"protein_id": "ENSP00000278829.2",
"transcript_support_level": 1,
"aa_start": 429,
"aa_end": null,
"aa_length": 445,
"cds_start": 1287,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 1790,
"mane_select": "NM_021727.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FADS3",
"gene_hgnc_id": 3576,
"hgvs_c": "c.1203G>A",
"hgvs_p": "p.Arg401Arg",
"transcript": "ENST00000525588.5",
"protein_id": "ENSP00000432206.1",
"transcript_support_level": 5,
"aa_start": 401,
"aa_end": null,
"aa_length": 417,
"cds_start": 1203,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1203,
"cdna_end": null,
"cdna_length": 1254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FADS3",
"gene_hgnc_id": 3576,
"hgvs_c": "c.942G>A",
"hgvs_p": "p.Arg314Arg",
"transcript": "ENST00000527697.5",
"protein_id": "ENSP00000431533.1",
"transcript_support_level": 5,
"aa_start": 314,
"aa_end": null,
"aa_length": 330,
"cds_start": 942,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1294,
"cdna_end": null,
"cdna_length": 1640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FADS3",
"gene_hgnc_id": 3576,
"hgvs_c": "c.636G>A",
"hgvs_p": "p.Arg212Arg",
"transcript": "ENST00000527379.5",
"protein_id": "ENSP00000435597.1",
"transcript_support_level": 3,
"aa_start": 212,
"aa_end": null,
"aa_length": 228,
"cds_start": 636,
"cds_end": null,
"cds_length": 687,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FADS3",
"gene_hgnc_id": 3576,
"hgvs_c": "c.297G>A",
"hgvs_p": "p.Arg99Arg",
"transcript": "ENST00000525094.5",
"protein_id": "ENSP00000432012.1",
"transcript_support_level": 5,
"aa_start": 99,
"aa_end": null,
"aa_length": 115,
"cds_start": 297,
"cds_end": null,
"cds_length": 348,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FADS3",
"gene_hgnc_id": 3576,
"hgvs_c": "c.1452G>A",
"hgvs_p": "p.Arg484Arg",
"transcript": "XM_017017723.1",
"protein_id": "XP_016873212.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 500,
"cds_start": 1452,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 1806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FADS3",
"gene_hgnc_id": 3576,
"hgvs_c": "c.1425G>A",
"hgvs_p": "p.Arg475Arg",
"transcript": "XM_017017724.1",
"protein_id": "XP_016873213.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 491,
"cds_start": 1425,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1440,
"cdna_end": null,
"cdna_length": 1779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FADS3",
"gene_hgnc_id": 3576,
"hgvs_c": "c.1314G>A",
"hgvs_p": "p.Arg438Arg",
"transcript": "XM_011545023.2",
"protein_id": "XP_011543325.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 454,
"cds_start": 1314,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1478,
"cdna_end": null,
"cdna_length": 1817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FADS3",
"gene_hgnc_id": 3576,
"hgvs_c": "c.942G>A",
"hgvs_p": "p.Arg314Arg",
"transcript": "XM_047426936.1",
"protein_id": "XP_047282892.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 330,
"cds_start": 942,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 1459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FADS3",
"gene_hgnc_id": 3576,
"hgvs_c": "n.2041G>A",
"hgvs_p": null,
"transcript": "ENST00000529404.5",
"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": 2379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FADS3",
"gene_hgnc_id": 3576,
"hgvs_c": "n.4973G>A",
"hgvs_p": null,
"transcript": "ENST00000533676.5",
"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": 5314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FADS3",
"gene_hgnc_id": 3576,
"dbsnp": "rs776905980",
"frequency_reference_population": 0.0000020618272,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000206183,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.32899999618530273,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.2980000078678131,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.329,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.27,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0394464335462688,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP7",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP7"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000278829.7",
"gene_symbol": "FADS3",
"hgnc_id": 3576,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1287G>A",
"hgvs_p": "p.Arg429Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}