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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: 3-14922522-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=14922522&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FGD5",
"hgnc_id": 19117,
"hgvs_c": "c.3781C>T",
"hgvs_p": "p.Arg1261Cys",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_152536.4",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "LOC105376963",
"hgnc_id": null,
"hgvs_c": "n.913G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "XR_007095828.1",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "FGD5-AS1",
"hgnc_id": 40410,
"hgvs_c": "n.793-118G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "ENST00000430166.5",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 8,
"alphamissense_prediction": null,
"alphamissense_score": 0.9783,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.16,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9819849729537964,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1462,
"aa_ref": "R",
"aa_start": 1261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5903,
"cdna_start": 3891,
"cds_end": null,
"cds_length": 4389,
"cds_start": 3781,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_152536.4",
"gene_hgnc_id": 19117,
"gene_symbol": "FGD5",
"hgvs_c": "c.3781C>T",
"hgvs_p": "p.Arg1261Cys",
"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": "C",
"aa_end": null,
"aa_length": 1462,
"aa_ref": "R",
"aa_start": 1261,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5903,
"cdna_start": 3891,
"cds_end": null,
"cds_length": 4389,
"cds_start": 3781,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000285046.10",
"gene_hgnc_id": 19117,
"gene_symbol": "FGD5",
"hgvs_c": "c.3781C>T",
"hgvs_p": "p.Arg1261Cys",
"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": "C",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "R",
"aa_start": 1020,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5768,
"cdna_start": 3891,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3058,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000543601.5",
"gene_hgnc_id": 19117,
"gene_symbol": "FGD5",
"hgvs_c": "c.3058C>T",
"hgvs_p": "p.Arg1020Cys",
"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": 12,
"exon_rank_end": null,
"feature": "ENST00000476851.1",
"gene_hgnc_id": 19117,
"gene_symbol": "FGD5",
"hgvs_c": "n.1318C>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": "C",
"aa_end": null,
"aa_length": 1465,
"aa_ref": "R",
"aa_start": 1262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4949,
"cdna_start": 4063,
"cds_end": null,
"cds_length": 4398,
"cds_start": 3784,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000969464.1",
"gene_hgnc_id": 19117,
"gene_symbol": "FGD5",
"hgvs_c": "c.3784C>T",
"hgvs_p": "p.Arg1262Cys",
"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": "C",
"aa_end": null,
"aa_length": 1464,
"aa_ref": "R",
"aa_start": 1261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6040,
"cdna_start": 4022,
"cds_end": null,
"cds_length": 4395,
"cds_start": 3781,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000859932.1",
"gene_hgnc_id": 19117,
"gene_symbol": "FGD5",
"hgvs_c": "c.3781C>T",
"hgvs_p": "p.Arg1261Cys",
"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": "C",
"aa_end": null,
"aa_length": 1463,
"aa_ref": "R",
"aa_start": 1260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5914,
"cdna_start": 4081,
"cds_end": null,
"cds_length": 4392,
"cds_start": 3778,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000969463.1",
"gene_hgnc_id": 19117,
"gene_symbol": "FGD5",
"hgvs_c": "c.3778C>T",
"hgvs_p": "p.Arg1260Cys",
"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": "C",
"aa_end": null,
"aa_length": 1461,
"aa_ref": "R",
"aa_start": 1260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5510,
"cdna_start": 4086,
"cds_end": null,
"cds_length": 4386,
"cds_start": 3778,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000918365.1",
"gene_hgnc_id": 19117,
"gene_symbol": "FGD5",
"hgvs_c": "c.3778C>T",
"hgvs_p": "p.Arg1260Cys",
"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": "C",
"aa_end": null,
"aa_length": 1438,
"aa_ref": "R",
"aa_start": 1237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5899,
"cdna_start": 3957,
"cds_end": null,
"cds_length": 4317,
"cds_start": 3709,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000859933.1",
"gene_hgnc_id": 19117,
"gene_symbol": "FGD5",
"hgvs_c": "c.3709C>T",
"hgvs_p": "p.Arg1237Cys",
"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": "C",
"aa_end": null,
"aa_length": 1436,
"aa_ref": "R",
"aa_start": 1233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6176,
"cdna_start": 4161,
"cds_end": null,
"cds_length": 4311,
"cds_start": 3697,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000969461.1",
"gene_hgnc_id": 19117,
"gene_symbol": "FGD5",
"hgvs_c": "c.3697C>T",
"hgvs_p": "p.Arg1233Cys",
"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": "C",
"aa_end": null,
"aa_length": 1434,
"aa_ref": "R",
"aa_start": 1233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5998,
"cdna_start": 3986,
"cds_end": null,
"cds_length": 4305,
"cds_start": 3697,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000918364.1",
"gene_hgnc_id": 19117,
"gene_symbol": "FGD5",
"hgvs_c": "c.3697C>T",
"hgvs_p": "p.Arg1233Cys",
"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": "C",
"aa_end": null,
"aa_length": 1421,
"aa_ref": "R",
"aa_start": 1261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5899,
"cdna_start": 4081,
"cds_end": null,
"cds_length": 4266,
"cds_start": 3781,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000969462.1",
"gene_hgnc_id": 19117,
"gene_symbol": "FGD5",
"hgvs_c": "c.3781C>T",
"hgvs_p": "p.Arg1261Cys",
"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": "C",
"aa_end": null,
"aa_length": 1419,
"aa_ref": "R",
"aa_start": 1261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5774,
"cdna_start": 3891,
"cds_end": null,
"cds_length": 4260,
"cds_start": 3781,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001320276.2",
"gene_hgnc_id": 19117,
"gene_symbol": "FGD5",
"hgvs_c": "c.3781C>T",
"hgvs_p": "p.Arg1261Cys",
"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": "C",
"aa_end": null,
"aa_length": 1507,
"aa_ref": "R",
"aa_start": 1304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6093,
"cdna_start": 4075,
"cds_end": null,
"cds_length": 4524,
"cds_start": 3910,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_011533422.2",
"gene_hgnc_id": 19117,
"gene_symbol": "FGD5",
"hgvs_c": "c.3910C>T",
"hgvs_p": "p.Arg1304Cys",
"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": "C",
"aa_end": null,
"aa_length": 1505,
"aa_ref": "R",
"aa_start": 1304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6087,
"cdna_start": 4075,
"cds_end": null,
"cds_length": 4518,
"cds_start": 3910,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047447514.1",
"gene_hgnc_id": 19117,
"gene_symbol": "FGD5",
"hgvs_c": "c.3910C>T",
"hgvs_p": "p.Arg1304Cys",
"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": "C",
"aa_end": null,
"aa_length": 1464,
"aa_ref": "R",
"aa_start": 1304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5964,
"cdna_start": 4075,
"cds_end": null,
"cds_length": 4395,
"cds_start": 3910,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_011533423.2",
"gene_hgnc_id": 19117,
"gene_symbol": "FGD5",
"hgvs_c": "c.3910C>T",
"hgvs_p": "p.Arg1304Cys",
"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": "C",
"aa_end": null,
"aa_length": 1462,
"aa_ref": "R",
"aa_start": 1304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5958,
"cdna_start": 4075,
"cds_end": null,
"cds_length": 4389,
"cds_start": 3910,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047447515.1",
"gene_hgnc_id": 19117,
"gene_symbol": "FGD5",
"hgvs_c": "c.3910C>T",
"hgvs_p": "p.Arg1304Cys",
"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": 12,
"exon_rank_end": null,
"feature": "ENST00000468662.5",
"gene_hgnc_id": 19117,
"gene_symbol": "FGD5",
"hgvs_c": "n.1083C>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": 1881,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XR_007095828.1",
"gene_hgnc_id": null,
"gene_symbol": "LOC105376963",
"hgvs_c": "n.913G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XR_007095829.1",
"gene_hgnc_id": null,
"gene_symbol": "LOC105376963",
"hgvs_c": "n.913G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
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{
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]
}