← 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: 3-14924121-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=14924121&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FGD5",
"hgnc_id": 19117,
"hgvs_c": "c.4051C>T",
"hgvs_p": "p.Pro1351Ser",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_152536.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "FGD5-AS1",
"hgnc_id": 40410,
"hgvs_c": "n.413-23G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000430166.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "LOC105376963",
"hgnc_id": null,
"hgvs_c": "n.-59G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "XR_007095828.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 10,
"alphamissense_prediction": null,
"alphamissense_score": 0.1161,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2335089147090912,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1462,
"aa_ref": "P",
"aa_start": 1351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5903,
"cdna_start": 4161,
"cds_end": null,
"cds_length": 4389,
"cds_start": 4051,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_152536.4",
"gene_hgnc_id": 19117,
"gene_symbol": "FGD5",
"hgvs_c": "c.4051C>T",
"hgvs_p": "p.Pro1351Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000285046.10",
"protein_coding": true,
"protein_id": "NP_689749.3",
"strand": true,
"transcript": "NM_152536.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1462,
"aa_ref": "P",
"aa_start": 1351,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5903,
"cdna_start": 4161,
"cds_end": null,
"cds_length": 4389,
"cds_start": 4051,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000285046.10",
"gene_hgnc_id": 19117,
"gene_symbol": "FGD5",
"hgvs_c": "c.4051C>T",
"hgvs_p": "p.Pro1351Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_152536.4",
"protein_coding": true,
"protein_id": "ENSP00000285046.5",
"strand": true,
"transcript": "ENST00000285046.10",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "P",
"aa_start": 1110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5768,
"cdna_start": 4161,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3328,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000543601.5",
"gene_hgnc_id": 19117,
"gene_symbol": "FGD5",
"hgvs_c": "c.3328C>T",
"hgvs_p": "p.Pro1110Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445949.1",
"strand": true,
"transcript": "ENST00000543601.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2198,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000476851.1",
"gene_hgnc_id": 19117,
"gene_symbol": "FGD5",
"hgvs_c": "n.1588C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000476851.1",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1465,
"aa_ref": "P",
"aa_start": 1354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4949,
"cdna_start": 4339,
"cds_end": null,
"cds_length": 4398,
"cds_start": 4060,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000969464.1",
"gene_hgnc_id": 19117,
"gene_symbol": "FGD5",
"hgvs_c": "c.4060C>T",
"hgvs_p": "p.Pro1354Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639523.1",
"strand": true,
"transcript": "ENST00000969464.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1464,
"aa_ref": "P",
"aa_start": 1353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6040,
"cdna_start": 4298,
"cds_end": null,
"cds_length": 4395,
"cds_start": 4057,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000859932.1",
"gene_hgnc_id": 19117,
"gene_symbol": "FGD5",
"hgvs_c": "c.4057C>T",
"hgvs_p": "p.Pro1353Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529991.1",
"strand": true,
"transcript": "ENST00000859932.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1463,
"aa_ref": "P",
"aa_start": 1352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5914,
"cdna_start": 4357,
"cds_end": null,
"cds_length": 4392,
"cds_start": 4054,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000969463.1",
"gene_hgnc_id": 19117,
"gene_symbol": "FGD5",
"hgvs_c": "c.4054C>T",
"hgvs_p": "p.Pro1352Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639522.1",
"strand": true,
"transcript": "ENST00000969463.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1461,
"aa_ref": "P",
"aa_start": 1350,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5510,
"cdna_start": 4356,
"cds_end": null,
"cds_length": 4386,
"cds_start": 4048,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000918365.1",
"gene_hgnc_id": 19117,
"gene_symbol": "FGD5",
"hgvs_c": "c.4048C>T",
"hgvs_p": "p.Pro1350Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588424.1",
"strand": true,
"transcript": "ENST00000918365.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1438,
"aa_ref": "P",
"aa_start": 1327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5899,
"cdna_start": 4227,
"cds_end": null,
"cds_length": 4317,
"cds_start": 3979,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000859933.1",
"gene_hgnc_id": 19117,
"gene_symbol": "FGD5",
"hgvs_c": "c.3979C>T",
"hgvs_p": "p.Pro1327Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529992.1",
"strand": true,
"transcript": "ENST00000859933.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1436,
"aa_ref": "P",
"aa_start": 1325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6176,
"cdna_start": 4437,
"cds_end": null,
"cds_length": 4311,
"cds_start": 3973,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000969461.1",
"gene_hgnc_id": 19117,
"gene_symbol": "FGD5",
"hgvs_c": "c.3973C>T",
"hgvs_p": "p.Pro1325Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639520.1",
"strand": true,
"transcript": "ENST00000969461.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1434,
"aa_ref": "P",
"aa_start": 1323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5998,
"cdna_start": 4256,
"cds_end": null,
"cds_length": 4305,
"cds_start": 3967,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000918364.1",
"gene_hgnc_id": 19117,
"gene_symbol": "FGD5",
"hgvs_c": "c.3967C>T",
"hgvs_p": "p.Pro1323Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588423.1",
"strand": true,
"transcript": "ENST00000918364.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1421,
"aa_ref": "P",
"aa_start": 1353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5899,
"cdna_start": 4357,
"cds_end": null,
"cds_length": 4266,
"cds_start": 4057,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000969462.1",
"gene_hgnc_id": 19117,
"gene_symbol": "FGD5",
"hgvs_c": "c.4057C>T",
"hgvs_p": "p.Pro1353Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639521.1",
"strand": true,
"transcript": "ENST00000969462.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1419,
"aa_ref": "P",
"aa_start": 1351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5774,
"cdna_start": 4161,
"cds_end": null,
"cds_length": 4260,
"cds_start": 4051,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001320276.2",
"gene_hgnc_id": 19117,
"gene_symbol": "FGD5",
"hgvs_c": "c.4051C>T",
"hgvs_p": "p.Pro1351Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307205.1",
"strand": true,
"transcript": "NM_001320276.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1507,
"aa_ref": "P",
"aa_start": 1396,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6093,
"cdna_start": 4351,
"cds_end": null,
"cds_length": 4524,
"cds_start": 4186,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_011533422.2",
"gene_hgnc_id": 19117,
"gene_symbol": "FGD5",
"hgvs_c": "c.4186C>T",
"hgvs_p": "p.Pro1396Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531724.2",
"strand": true,
"transcript": "XM_011533422.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1505,
"aa_ref": "P",
"aa_start": 1394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6087,
"cdna_start": 4345,
"cds_end": null,
"cds_length": 4518,
"cds_start": 4180,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047447514.1",
"gene_hgnc_id": 19117,
"gene_symbol": "FGD5",
"hgvs_c": "c.4180C>T",
"hgvs_p": "p.Pro1394Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303470.1",
"strand": true,
"transcript": "XM_047447514.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1464,
"aa_ref": "P",
"aa_start": 1396,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5964,
"cdna_start": 4351,
"cds_end": null,
"cds_length": 4395,
"cds_start": 4186,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_011533423.2",
"gene_hgnc_id": 19117,
"gene_symbol": "FGD5",
"hgvs_c": "c.4186C>T",
"hgvs_p": "p.Pro1396Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531725.2",
"strand": true,
"transcript": "XM_011533423.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1462,
"aa_ref": "P",
"aa_start": 1394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5958,
"cdna_start": 4345,
"cds_end": null,
"cds_length": 4389,
"cds_start": 4180,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047447515.1",
"gene_hgnc_id": 19117,
"gene_symbol": "FGD5",
"hgvs_c": "c.4180C>T",
"hgvs_p": "p.Pro1394Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303471.1",
"strand": true,
"transcript": "XM_047447515.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1962,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000468662.5",
"gene_hgnc_id": 19117,
"gene_symbol": "FGD5",
"hgvs_c": "n.1353C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000468662.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1184,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000430166.5",
"gene_hgnc_id": 40410,
"gene_symbol": "FGD5-AS1",
"hgvs_c": "n.413-23G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000430166.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1881,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007095828.1",
"gene_hgnc_id": null,
"gene_symbol": "LOC105376963",
"hgvs_c": "n.-59G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007095828.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1422,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007095829.1",
"gene_hgnc_id": null,
"gene_symbol": "LOC105376963",
"hgvs_c": "n.-59G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007095829.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs761749889",
"effect": "missense_variant",
"frequency_reference_population": 0.000006196409,
"gene_hgnc_id": 19117,
"gene_symbol": "FGD5",
"gnomad_exomes_ac": 9,
"gnomad_exomes_af": 0.00000615725,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657263,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.268,
"pos": 14924121,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.144,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_152536.4"
}
]
}