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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: 14-50159939-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=50159939&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 17,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "SOS2",
"hgnc_id": 11188,
"hgvs_c": "c.1344G>A",
"hgvs_p": "p.Leu448Leu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -17,
"transcript": "NM_006939.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_score": -17,
"allele_count_reference_population": 7263,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "14",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Cardiovascular phenotype,Noonan syndrome 9,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:6",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.49000000953674316,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1332,
"aa_ref": "L",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5508,
"cdna_start": 1639,
"cds_end": null,
"cds_length": 3999,
"cds_start": 1344,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_006939.4",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.1344G>A",
"hgvs_p": "p.Leu448Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000216373.10",
"protein_coding": true,
"protein_id": "NP_008870.2",
"strand": false,
"transcript": "NM_006939.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1332,
"aa_ref": "L",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5508,
"cdna_start": 1639,
"cds_end": null,
"cds_length": 3999,
"cds_start": 1344,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000216373.10",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.1344G>A",
"hgvs_p": "p.Leu448Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006939.4",
"protein_coding": true,
"protein_id": "ENSP00000216373.5",
"strand": false,
"transcript": "ENST00000216373.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "L",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3960,
"cdna_start": 1271,
"cds_end": null,
"cds_length": 3900,
"cds_start": 1245,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000543680.5",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.1245G>A",
"hgvs_p": "p.Leu415Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445328.1",
"strand": false,
"transcript": "ENST00000543680.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 418,
"aa_ref": "L",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2278,
"cdna_start": 458,
"cds_end": null,
"cds_length": 1257,
"cds_start": 456,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000555794.2",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.456G>A",
"hgvs_p": "p.Leu152Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000484766.1",
"strand": false,
"transcript": "ENST00000555794.2",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1379,
"aa_ref": "L",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5971,
"cdna_start": 2108,
"cds_end": null,
"cds_length": 4140,
"cds_start": 1485,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000934708.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.1485G>A",
"hgvs_p": "p.Leu495Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604767.1",
"strand": false,
"transcript": "ENST00000934708.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1350,
"aa_ref": "L",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5862,
"cdna_start": 1999,
"cds_end": null,
"cds_length": 4053,
"cds_start": 1398,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000953731.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.1398G>A",
"hgvs_p": "p.Leu466Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623790.1",
"strand": false,
"transcript": "ENST00000953731.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "L",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5409,
"cdna_start": 1540,
"cds_end": null,
"cds_length": 3900,
"cds_start": 1245,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001411020.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.1245G>A",
"hgvs_p": "p.Leu415Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397949.1",
"strand": false,
"transcript": "NM_001411020.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1295,
"aa_ref": "L",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5392,
"cdna_start": 1528,
"cds_end": null,
"cds_length": 3888,
"cds_start": 1233,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000953732.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.1233G>A",
"hgvs_p": "p.Leu411Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623791.1",
"strand": false,
"transcript": "ENST00000953732.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1293,
"aa_ref": "L",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5186,
"cdna_start": 1633,
"cds_end": null,
"cds_length": 3882,
"cds_start": 1344,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000953735.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.1344G>A",
"hgvs_p": "p.Leu448Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623794.1",
"strand": false,
"transcript": "ENST00000953735.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1284,
"aa_ref": "L",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5277,
"cdna_start": 1607,
"cds_end": null,
"cds_length": 3855,
"cds_start": 1200,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000953733.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.1200G>A",
"hgvs_p": "p.Leu400Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623792.1",
"strand": false,
"transcript": "ENST00000953733.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1264,
"aa_ref": "L",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5177,
"cdna_start": 1312,
"cds_end": null,
"cds_length": 3795,
"cds_start": 1140,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000953734.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.1140G>A",
"hgvs_p": "p.Leu380Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623793.1",
"strand": false,
"transcript": "ENST00000953734.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1191,
"aa_ref": "L",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4903,
"cdna_start": 1219,
"cds_end": null,
"cds_length": 3576,
"cds_start": 921,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000934709.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.921G>A",
"hgvs_p": "p.Leu307Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604768.1",
"strand": false,
"transcript": "ENST00000934709.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1397,
"aa_ref": "L",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5703,
"cdna_start": 1834,
"cds_end": null,
"cds_length": 4194,
"cds_start": 1539,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047431713.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.1539G>A",
"hgvs_p": "p.Leu513Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287669.1",
"strand": false,
"transcript": "XM_047431713.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1379,
"aa_ref": "L",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5649,
"cdna_start": 1780,
"cds_end": null,
"cds_length": 4140,
"cds_start": 1485,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047431714.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.1485G>A",
"hgvs_p": "p.Leu495Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287670.1",
"strand": false,
"transcript": "XM_047431714.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1364,
"aa_ref": "L",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5604,
"cdna_start": 1735,
"cds_end": null,
"cds_length": 4095,
"cds_start": 1440,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047431715.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.1440G>A",
"hgvs_p": "p.Leu480Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287671.1",
"strand": false,
"transcript": "XM_047431715.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1350,
"aa_ref": "L",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5562,
"cdna_start": 1693,
"cds_end": null,
"cds_length": 4053,
"cds_start": 1398,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047431716.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.1398G>A",
"hgvs_p": "p.Leu466Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287672.1",
"strand": false,
"transcript": "XM_047431716.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1346,
"aa_ref": "L",
"aa_start": 462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5550,
"cdna_start": 1681,
"cds_end": null,
"cds_length": 4041,
"cds_start": 1386,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047431717.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.1386G>A",
"hgvs_p": "p.Leu462Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287673.1",
"strand": false,
"transcript": "XM_047431717.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1337,
"aa_ref": "L",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5621,
"cdna_start": 1752,
"cds_end": null,
"cds_length": 4014,
"cds_start": 1359,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047431718.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.1359G>A",
"hgvs_p": "p.Leu453Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287674.1",
"strand": false,
"transcript": "XM_047431718.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1319,
"aa_ref": "L",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5567,
"cdna_start": 1698,
"cds_end": null,
"cds_length": 3960,
"cds_start": 1305,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047431719.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.1305G>A",
"hgvs_p": "p.Leu435Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287675.1",
"strand": false,
"transcript": "XM_047431719.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1290,
"aa_ref": "L",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5461,
"cdna_start": 1592,
"cds_end": null,
"cds_length": 3873,
"cds_start": 1218,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047431722.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.1218G>A",
"hgvs_p": "p.Leu406Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287678.1",
"strand": false,
"transcript": "XM_047431722.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1290,
"aa_ref": "L",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5290,
"cdna_start": 1421,
"cds_end": null,
"cds_length": 3873,
"cds_start": 1218,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
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}
],
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"phenotype_combined": "not provided|Noonan syndrome 9|not specified|Cardiovascular phenotype",
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}
]
}