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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: 14-50160085-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=50160085&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 16,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "SOS2",
"hgnc_id": 11188,
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Asp400Asn",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -16,
"transcript": "NM_006939.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_score": -16,
"allele_count_reference_population": 77,
"alphamissense_prediction": null,
"alphamissense_score": 0.1049,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.36,
"chr": "14",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Noonan syndrome 9,Noonan syndrome and Noonan-related syndrome",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.05605757236480713,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1332,
"aa_ref": "D",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5508,
"cdna_start": 1493,
"cds_end": null,
"cds_length": 3999,
"cds_start": 1198,
"consequences": [
"missense_variant",
"splice_region_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.1198G>A",
"hgvs_p": "p.Asp400Asn",
"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": "N",
"aa_end": null,
"aa_length": 1332,
"aa_ref": "D",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5508,
"cdna_start": 1493,
"cds_end": null,
"cds_length": 3999,
"cds_start": 1198,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 23,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000216373.10",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Asp400Asn",
"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": "N",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "D",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3960,
"cdna_start": 1125,
"cds_end": null,
"cds_length": 3900,
"cds_start": 1099,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000543680.5",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.1099G>A",
"hgvs_p": "p.Asp367Asn",
"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": "N",
"aa_end": null,
"aa_length": 418,
"aa_ref": "D",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2278,
"cdna_start": 312,
"cds_end": null,
"cds_length": 1257,
"cds_start": 310,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000555794.2",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.310G>A",
"hgvs_p": "p.Asp104Asn",
"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": "N",
"aa_end": null,
"aa_length": 1379,
"aa_ref": "D",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5971,
"cdna_start": 1962,
"cds_end": null,
"cds_length": 4140,
"cds_start": 1339,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000934708.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.1339G>A",
"hgvs_p": "p.Asp447Asn",
"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": "N",
"aa_end": null,
"aa_length": 1350,
"aa_ref": "D",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5862,
"cdna_start": 1853,
"cds_end": null,
"cds_length": 4053,
"cds_start": 1252,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000953731.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.1252G>A",
"hgvs_p": "p.Asp418Asn",
"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": "N",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "D",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5409,
"cdna_start": 1394,
"cds_end": null,
"cds_length": 3900,
"cds_start": 1099,
"consequences": [
"missense_variant",
"splice_region_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.1099G>A",
"hgvs_p": "p.Asp367Asn",
"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": "N",
"aa_end": null,
"aa_length": 1295,
"aa_ref": "D",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5392,
"cdna_start": 1382,
"cds_end": null,
"cds_length": 3888,
"cds_start": 1087,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000953732.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.1087G>A",
"hgvs_p": "p.Asp363Asn",
"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": "N",
"aa_end": null,
"aa_length": 1293,
"aa_ref": "D",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5186,
"cdna_start": 1487,
"cds_end": null,
"cds_length": 3882,
"cds_start": 1198,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 22,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000953735.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Asp400Asn",
"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": "N",
"aa_end": null,
"aa_length": 1284,
"aa_ref": "D",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5277,
"cdna_start": 1461,
"cds_end": null,
"cds_length": 3855,
"cds_start": 1054,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000953733.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.1054G>A",
"hgvs_p": "p.Asp352Asn",
"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": "N",
"aa_end": null,
"aa_length": 1264,
"aa_ref": "D",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5177,
"cdna_start": 1166,
"cds_end": null,
"cds_length": 3795,
"cds_start": 994,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000953734.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.994G>A",
"hgvs_p": "p.Asp332Asn",
"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": "N",
"aa_end": null,
"aa_length": 1191,
"aa_ref": "D",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4903,
"cdna_start": 1073,
"cds_end": null,
"cds_length": 3576,
"cds_start": 775,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000934709.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.775G>A",
"hgvs_p": "p.Asp259Asn",
"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": "N",
"aa_end": null,
"aa_length": 1397,
"aa_ref": "D",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5703,
"cdna_start": 1688,
"cds_end": null,
"cds_length": 4194,
"cds_start": 1393,
"consequences": [
"missense_variant",
"splice_region_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.1393G>A",
"hgvs_p": "p.Asp465Asn",
"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": "N",
"aa_end": null,
"aa_length": 1379,
"aa_ref": "D",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5649,
"cdna_start": 1634,
"cds_end": null,
"cds_length": 4140,
"cds_start": 1339,
"consequences": [
"missense_variant",
"splice_region_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.1339G>A",
"hgvs_p": "p.Asp447Asn",
"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": "N",
"aa_end": null,
"aa_length": 1364,
"aa_ref": "D",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5604,
"cdna_start": 1589,
"cds_end": null,
"cds_length": 4095,
"cds_start": 1294,
"consequences": [
"missense_variant",
"splice_region_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.1294G>A",
"hgvs_p": "p.Asp432Asn",
"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": "N",
"aa_end": null,
"aa_length": 1350,
"aa_ref": "D",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5562,
"cdna_start": 1547,
"cds_end": null,
"cds_length": 4053,
"cds_start": 1252,
"consequences": [
"missense_variant",
"splice_region_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.1252G>A",
"hgvs_p": "p.Asp418Asn",
"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": "N",
"aa_end": null,
"aa_length": 1346,
"aa_ref": "D",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5550,
"cdna_start": 1535,
"cds_end": null,
"cds_length": 4041,
"cds_start": 1240,
"consequences": [
"missense_variant",
"splice_region_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.1240G>A",
"hgvs_p": "p.Asp414Asn",
"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": "N",
"aa_end": null,
"aa_length": 1337,
"aa_ref": "D",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5621,
"cdna_start": 1606,
"cds_end": null,
"cds_length": 4014,
"cds_start": 1213,
"consequences": [
"missense_variant",
"splice_region_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.1213G>A",
"hgvs_p": "p.Asp405Asn",
"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": "N",
"aa_end": null,
"aa_length": 1319,
"aa_ref": "D",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5567,
"cdna_start": 1552,
"cds_end": null,
"cds_length": 3960,
"cds_start": 1159,
"consequences": [
"missense_variant",
"splice_region_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.1159G>A",
"hgvs_p": "p.Asp387Asn",
"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": "N",
"aa_end": null,
"aa_length": 1290,
"aa_ref": "D",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5461,
"cdna_start": 1446,
"cds_end": null,
"cds_length": 3873,
"cds_start": 1072,
"consequences": [
"missense_variant",
"splice_region_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.1072G>A",
"hgvs_p": "p.Asp358Asn",
"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
},
{
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],
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"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "Noonan syndrome and Noonan-related syndrome|Noonan syndrome 9",
"phylop100way_prediction": "Pathogenic",
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"ref": "C",
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"splice_prediction_selected": "Benign",
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}
]
}