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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: 3-14926115-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=14926115&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 14926115,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_152536.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD5",
"gene_hgnc_id": 19117,
"hgvs_c": "c.4114C>T",
"hgvs_p": "p.Arg1372Trp",
"transcript": "NM_152536.4",
"protein_id": "NP_689749.3",
"transcript_support_level": null,
"aa_start": 1372,
"aa_end": null,
"aa_length": 1462,
"cds_start": 4114,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000285046.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152536.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD5",
"gene_hgnc_id": 19117,
"hgvs_c": "c.4114C>T",
"hgvs_p": "p.Arg1372Trp",
"transcript": "ENST00000285046.10",
"protein_id": "ENSP00000285046.5",
"transcript_support_level": 1,
"aa_start": 1372,
"aa_end": null,
"aa_length": 1462,
"cds_start": 4114,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152536.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000285046.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "FGD5",
"gene_hgnc_id": 19117,
"hgvs_c": "c.3345+1977C>T",
"hgvs_p": null,
"transcript": "ENST00000543601.5",
"protein_id": "ENSP00000445949.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1178,
"cds_start": null,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543601.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD5",
"gene_hgnc_id": 19117,
"hgvs_c": "n.1651C>T",
"hgvs_p": null,
"transcript": "ENST00000476851.1",
"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": "pseudogene",
"feature": "ENST00000476851.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD5",
"gene_hgnc_id": 19117,
"hgvs_c": "c.4123C>T",
"hgvs_p": "p.Arg1375Trp",
"transcript": "ENST00000969464.1",
"protein_id": "ENSP00000639523.1",
"transcript_support_level": null,
"aa_start": 1375,
"aa_end": null,
"aa_length": 1465,
"cds_start": 4123,
"cds_end": null,
"cds_length": 4398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969464.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD5",
"gene_hgnc_id": 19117,
"hgvs_c": "c.4120C>T",
"hgvs_p": "p.Arg1374Trp",
"transcript": "ENST00000859932.1",
"protein_id": "ENSP00000529991.1",
"transcript_support_level": null,
"aa_start": 1374,
"aa_end": null,
"aa_length": 1464,
"cds_start": 4120,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859932.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD5",
"gene_hgnc_id": 19117,
"hgvs_c": "c.4117C>T",
"hgvs_p": "p.Arg1373Trp",
"transcript": "ENST00000969463.1",
"protein_id": "ENSP00000639522.1",
"transcript_support_level": null,
"aa_start": 1373,
"aa_end": null,
"aa_length": 1463,
"cds_start": 4117,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969463.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD5",
"gene_hgnc_id": 19117,
"hgvs_c": "c.4111C>T",
"hgvs_p": "p.Arg1371Trp",
"transcript": "ENST00000918365.1",
"protein_id": "ENSP00000588424.1",
"transcript_support_level": null,
"aa_start": 1371,
"aa_end": null,
"aa_length": 1461,
"cds_start": 4111,
"cds_end": null,
"cds_length": 4386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918365.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD5",
"gene_hgnc_id": 19117,
"hgvs_c": "c.4042C>T",
"hgvs_p": "p.Arg1348Trp",
"transcript": "ENST00000859933.1",
"protein_id": "ENSP00000529992.1",
"transcript_support_level": null,
"aa_start": 1348,
"aa_end": null,
"aa_length": 1438,
"cds_start": 4042,
"cds_end": null,
"cds_length": 4317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859933.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD5",
"gene_hgnc_id": 19117,
"hgvs_c": "c.4036C>T",
"hgvs_p": "p.Arg1346Trp",
"transcript": "ENST00000969461.1",
"protein_id": "ENSP00000639520.1",
"transcript_support_level": null,
"aa_start": 1346,
"aa_end": null,
"aa_length": 1436,
"cds_start": 4036,
"cds_end": null,
"cds_length": 4311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969461.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD5",
"gene_hgnc_id": 19117,
"hgvs_c": "c.4030C>T",
"hgvs_p": "p.Arg1344Trp",
"transcript": "ENST00000918364.1",
"protein_id": "ENSP00000588423.1",
"transcript_support_level": null,
"aa_start": 1344,
"aa_end": null,
"aa_length": 1434,
"cds_start": 4030,
"cds_end": null,
"cds_length": 4305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918364.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD5",
"gene_hgnc_id": 19117,
"hgvs_c": "c.4249C>T",
"hgvs_p": "p.Arg1417Trp",
"transcript": "XM_011533422.2",
"protein_id": "XP_011531724.2",
"transcript_support_level": null,
"aa_start": 1417,
"aa_end": null,
"aa_length": 1507,
"cds_start": 4249,
"cds_end": null,
"cds_length": 4524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533422.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD5",
"gene_hgnc_id": 19117,
"hgvs_c": "c.4243C>T",
"hgvs_p": "p.Arg1415Trp",
"transcript": "XM_047447514.1",
"protein_id": "XP_047303470.1",
"transcript_support_level": null,
"aa_start": 1415,
"aa_end": null,
"aa_length": 1505,
"cds_start": 4243,
"cds_end": null,
"cds_length": 4518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447514.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "FGD5",
"gene_hgnc_id": 19117,
"hgvs_c": "c.4074+1977C>T",
"hgvs_p": null,
"transcript": "ENST00000969462.1",
"protein_id": "ENSP00000639521.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1421,
"cds_start": null,
"cds_end": null,
"cds_length": 4266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969462.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "FGD5",
"gene_hgnc_id": 19117,
"hgvs_c": "c.4068+1977C>T",
"hgvs_p": null,
"transcript": "NM_001320276.2",
"protein_id": "NP_001307205.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1419,
"cds_start": null,
"cds_end": null,
"cds_length": 4260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320276.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "FGD5",
"gene_hgnc_id": 19117,
"hgvs_c": "c.4203+1977C>T",
"hgvs_p": null,
"transcript": "XM_011533423.2",
"protein_id": "XP_011531725.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1464,
"cds_start": null,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533423.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "FGD5",
"gene_hgnc_id": 19117,
"hgvs_c": "c.4197+1977C>T",
"hgvs_p": null,
"transcript": "XM_047447515.1",
"protein_id": "XP_047303471.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1462,
"cds_start": null,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447515.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD5",
"gene_hgnc_id": 19117,
"hgvs_c": "n.1416C>T",
"hgvs_p": null,
"transcript": "ENST00000468662.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000468662.5"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FGD5-AS1",
"gene_hgnc_id": 40410,
"hgvs_c": "n.413-2017G>A",
"hgvs_p": null,
"transcript": "ENST00000430166.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000430166.5"
}
],
"gene_symbol": "FGD5",
"gene_hgnc_id": 19117,
"dbsnp": "rs200788448",
"frequency_reference_population": 0.00017784134,
"hom_count_reference_population": 0,
"allele_count_reference_population": 287,
"gnomad_exomes_af": 0.000185412,
"gnomad_genomes_af": 0.000105135,
"gnomad_exomes_ac": 271,
"gnomad_genomes_ac": 16,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7954965829849243,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.334,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5753,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.002,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.1,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152536.4",
"gene_symbol": "FGD5",
"hgnc_id": 19117,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4114C>T",
"hgvs_p": "p.Arg1372Trp"
},
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000430166.5",
"gene_symbol": "FGD5-AS1",
"hgnc_id": 40410,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.413-2017G>A",
"hgvs_p": null
}
],
"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
}