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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: 14-50118359-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=50118359&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 50118359,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_006939.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3984A>G",
"hgvs_p": "p.Ala1328Ala",
"transcript": "NM_006939.4",
"protein_id": "NP_008870.2",
"transcript_support_level": null,
"aa_start": 1328,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3984,
"cds_end": null,
"cds_length": 3999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000216373.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006939.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3984A>G",
"hgvs_p": "p.Ala1328Ala",
"transcript": "ENST00000216373.10",
"protein_id": "ENSP00000216373.5",
"transcript_support_level": 1,
"aa_start": 1328,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3984,
"cds_end": null,
"cds_length": 3999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006939.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216373.10"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3885A>G",
"hgvs_p": "p.Ala1295Ala",
"transcript": "ENST00000543680.5",
"protein_id": "ENSP00000445328.1",
"transcript_support_level": 1,
"aa_start": 1295,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3885,
"cds_end": null,
"cds_length": 3900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543680.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.4125A>G",
"hgvs_p": "p.Ala1375Ala",
"transcript": "ENST00000934708.1",
"protein_id": "ENSP00000604767.1",
"transcript_support_level": null,
"aa_start": 1375,
"aa_end": null,
"aa_length": 1379,
"cds_start": 4125,
"cds_end": null,
"cds_length": 4140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934708.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.4038A>G",
"hgvs_p": "p.Ala1346Ala",
"transcript": "ENST00000953731.1",
"protein_id": "ENSP00000623790.1",
"transcript_support_level": null,
"aa_start": 1346,
"aa_end": null,
"aa_length": 1350,
"cds_start": 4038,
"cds_end": null,
"cds_length": 4053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953731.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3885A>G",
"hgvs_p": "p.Ala1295Ala",
"transcript": "NM_001411020.1",
"protein_id": "NP_001397949.1",
"transcript_support_level": null,
"aa_start": 1295,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3885,
"cds_end": null,
"cds_length": 3900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411020.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3873A>G",
"hgvs_p": "p.Ala1291Ala",
"transcript": "ENST00000953732.1",
"protein_id": "ENSP00000623791.1",
"transcript_support_level": null,
"aa_start": 1291,
"aa_end": null,
"aa_length": 1295,
"cds_start": 3873,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953732.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3867A>G",
"hgvs_p": "p.Ala1289Ala",
"transcript": "ENST00000953735.1",
"protein_id": "ENSP00000623794.1",
"transcript_support_level": null,
"aa_start": 1289,
"aa_end": null,
"aa_length": 1293,
"cds_start": 3867,
"cds_end": null,
"cds_length": 3882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953735.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3840A>G",
"hgvs_p": "p.Ala1280Ala",
"transcript": "ENST00000953733.1",
"protein_id": "ENSP00000623792.1",
"transcript_support_level": null,
"aa_start": 1280,
"aa_end": null,
"aa_length": 1284,
"cds_start": 3840,
"cds_end": null,
"cds_length": 3855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953733.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3780A>G",
"hgvs_p": "p.Ala1260Ala",
"transcript": "ENST00000953734.1",
"protein_id": "ENSP00000623793.1",
"transcript_support_level": null,
"aa_start": 1260,
"aa_end": null,
"aa_length": 1264,
"cds_start": 3780,
"cds_end": null,
"cds_length": 3795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953734.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3561A>G",
"hgvs_p": "p.Ala1187Ala",
"transcript": "ENST00000934709.1",
"protein_id": "ENSP00000604768.1",
"transcript_support_level": null,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1191,
"cds_start": 3561,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934709.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.4179A>G",
"hgvs_p": "p.Ala1393Ala",
"transcript": "XM_047431713.1",
"protein_id": "XP_047287669.1",
"transcript_support_level": null,
"aa_start": 1393,
"aa_end": null,
"aa_length": 1397,
"cds_start": 4179,
"cds_end": null,
"cds_length": 4194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431713.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.4125A>G",
"hgvs_p": "p.Ala1375Ala",
"transcript": "XM_047431714.1",
"protein_id": "XP_047287670.1",
"transcript_support_level": null,
"aa_start": 1375,
"aa_end": null,
"aa_length": 1379,
"cds_start": 4125,
"cds_end": null,
"cds_length": 4140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431714.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.4080A>G",
"hgvs_p": "p.Ala1360Ala",
"transcript": "XM_047431715.1",
"protein_id": "XP_047287671.1",
"transcript_support_level": null,
"aa_start": 1360,
"aa_end": null,
"aa_length": 1364,
"cds_start": 4080,
"cds_end": null,
"cds_length": 4095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431715.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.4038A>G",
"hgvs_p": "p.Ala1346Ala",
"transcript": "XM_047431716.1",
"protein_id": "XP_047287672.1",
"transcript_support_level": null,
"aa_start": 1346,
"aa_end": null,
"aa_length": 1350,
"cds_start": 4038,
"cds_end": null,
"cds_length": 4053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431716.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.4026A>G",
"hgvs_p": "p.Ala1342Ala",
"transcript": "XM_047431717.1",
"protein_id": "XP_047287673.1",
"transcript_support_level": null,
"aa_start": 1342,
"aa_end": null,
"aa_length": 1346,
"cds_start": 4026,
"cds_end": null,
"cds_length": 4041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431717.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3999A>G",
"hgvs_p": "p.Ala1333Ala",
"transcript": "XM_047431718.1",
"protein_id": "XP_047287674.1",
"transcript_support_level": null,
"aa_start": 1333,
"aa_end": null,
"aa_length": 1337,
"cds_start": 3999,
"cds_end": null,
"cds_length": 4014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431718.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3945A>G",
"hgvs_p": "p.Ala1315Ala",
"transcript": "XM_047431719.1",
"protein_id": "XP_047287675.1",
"transcript_support_level": null,
"aa_start": 1315,
"aa_end": null,
"aa_length": 1319,
"cds_start": 3945,
"cds_end": null,
"cds_length": 3960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431719.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3858A>G",
"hgvs_p": "p.Ala1286Ala",
"transcript": "XM_047431722.1",
"protein_id": "XP_047287678.1",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1290,
"cds_start": 3858,
"cds_end": null,
"cds_length": 3873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431722.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3858A>G",
"hgvs_p": "p.Ala1286Ala",
"transcript": "XM_047431723.1",
"protein_id": "XP_047287679.1",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1290,
"cds_start": 3858,
"cds_end": null,
"cds_length": 3873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431723.1"
}
],
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"dbsnp": "rs776266602",
"frequency_reference_population": 0.000005577452,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000478973,
"gnomad_genomes_af": 0.0000131423,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5699999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.507,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_006939.4",
"gene_symbol": "SOS2",
"hgnc_id": 11188,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3984A>G",
"hgvs_p": "p.Ala1328Ala"
}
],
"clinvar_disease": "Cardiovascular phenotype,Noonan syndrome 9",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "Noonan syndrome 9|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}