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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: 14-50150175-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=50150175&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"BP4_Moderate",
"BP6",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SOS2",
"hgnc_id": 11188,
"hgvs_c": "c.2217G>T",
"hgvs_p": "p.Lys739Asn",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -7,
"transcript": "NM_006939.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS2",
"acmg_score": -7,
"allele_count_reference_population": 52,
"alphamissense_prediction": null,
"alphamissense_score": 0.5181,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.63,
"chr": "14",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Cardiovascular phenotype,Noonan syndrome 9,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2056129276752472,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1332,
"aa_ref": "K",
"aa_start": 739,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5508,
"cdna_start": 2512,
"cds_end": null,
"cds_length": 3999,
"cds_start": 2217,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_006939.4",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.2217G>T",
"hgvs_p": "p.Lys739Asn",
"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": "K",
"aa_start": 739,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5508,
"cdna_start": 2512,
"cds_end": null,
"cds_length": 3999,
"cds_start": 2217,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000216373.10",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.2217G>T",
"hgvs_p": "p.Lys739Asn",
"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": "K",
"aa_start": 706,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3960,
"cdna_start": 2144,
"cds_end": null,
"cds_length": 3900,
"cds_start": 2118,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000543680.5",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.2118G>T",
"hgvs_p": "p.Lys706Asn",
"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": 1379,
"aa_ref": "K",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5971,
"cdna_start": 2981,
"cds_end": null,
"cds_length": 4140,
"cds_start": 2358,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000934708.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.2358G>T",
"hgvs_p": "p.Lys786Asn",
"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": "K",
"aa_start": 757,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5862,
"cdna_start": 2872,
"cds_end": null,
"cds_length": 4053,
"cds_start": 2271,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000953731.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.2271G>T",
"hgvs_p": "p.Lys757Asn",
"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": "K",
"aa_start": 706,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5409,
"cdna_start": 2413,
"cds_end": null,
"cds_length": 3900,
"cds_start": 2118,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001411020.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.2118G>T",
"hgvs_p": "p.Lys706Asn",
"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": "K",
"aa_start": 702,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5392,
"cdna_start": 2401,
"cds_end": null,
"cds_length": 3888,
"cds_start": 2106,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000953732.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.2106G>T",
"hgvs_p": "p.Lys702Asn",
"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": "K",
"aa_start": 739,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5186,
"cdna_start": 2506,
"cds_end": null,
"cds_length": 3882,
"cds_start": 2217,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000953735.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.2217G>T",
"hgvs_p": "p.Lys739Asn",
"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": "K",
"aa_start": 691,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5277,
"cdna_start": 2480,
"cds_end": null,
"cds_length": 3855,
"cds_start": 2073,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000953733.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.2073G>T",
"hgvs_p": "p.Lys691Asn",
"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": "K",
"aa_start": 671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5177,
"cdna_start": 2185,
"cds_end": null,
"cds_length": 3795,
"cds_start": 2013,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000953734.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.2013G>T",
"hgvs_p": "p.Lys671Asn",
"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": "K",
"aa_start": 598,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4903,
"cdna_start": 2092,
"cds_end": null,
"cds_length": 3576,
"cds_start": 1794,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000934709.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.1794G>T",
"hgvs_p": "p.Lys598Asn",
"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": "K",
"aa_start": 804,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5703,
"cdna_start": 2707,
"cds_end": null,
"cds_length": 4194,
"cds_start": 2412,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047431713.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.2412G>T",
"hgvs_p": "p.Lys804Asn",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287669.1",
"strand": false,
"transcript": "XM_047431713.1",
"transcript_support_level": null
},
{
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"aa_ref": "K",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5649,
"cdna_start": 2653,
"cds_end": null,
"cds_length": 4140,
"cds_start": 2358,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047431714.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.2358G>T",
"hgvs_p": "p.Lys786Asn",
"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": "K",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5604,
"cdna_start": 2608,
"cds_end": null,
"cds_length": 4095,
"cds_start": 2313,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047431715.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.2313G>T",
"hgvs_p": "p.Lys771Asn",
"intron_rank": null,
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"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",
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"aa_length": 1350,
"aa_ref": "K",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5562,
"cdna_start": 2566,
"cds_end": null,
"cds_length": 4053,
"cds_start": 2271,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047431716.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.2271G>T",
"hgvs_p": "p.Lys757Asn",
"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": "K",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5550,
"cdna_start": 2554,
"cds_end": null,
"cds_length": 4041,
"cds_start": 2259,
"consequences": [
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],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047431717.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.2259G>T",
"hgvs_p": "p.Lys753Asn",
"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",
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"aa_length": 1337,
"aa_ref": "K",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5621,
"cdna_start": 2625,
"cds_end": null,
"cds_length": 4014,
"cds_start": 2232,
"consequences": [
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],
"exon_count": 25,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047431718.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.2232G>T",
"hgvs_p": "p.Lys744Asn",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047287674.1",
"strand": false,
"transcript": "XM_047431718.1",
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},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
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],
"exon_count": 24,
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"exon_rank_end": null,
"feature": "XM_047431719.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.2178G>T",
"hgvs_p": "p.Lys726Asn",
"intron_rank": null,
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"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",
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"aa_ref": "K",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 5461,
"cdna_start": 2465,
"cds_end": null,
"cds_length": 3873,
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"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047431722.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.2091G>T",
"hgvs_p": "p.Lys697Asn",
"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": "N",
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"aa_length": 1290,
"aa_ref": "K",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5290,
"cdna_start": 2294,
"cds_end": null,
"cds_length": 3873,
"cds_start": 2091,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047431723.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.2091G>T",
"hgvs_p": "p.Lys697Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287679.1",
"strand": false,
"transcript": "XM_047431723.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs186110427",
"effect": "missense_variant",
"frequency_reference_population": 0.000032228956,
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"gnomad_exomes_ac": 48,
"gnomad_exomes_af": 0.0000328473,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 4,
"gnomad_genomes_af": 0.0000262902,
"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": "Conflicting classifications of pathogenicity",
"phenotype_combined": "Noonan syndrome 9|not provided|Cardiovascular phenotype|not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.181,
"pos": 50150175,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.101,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_006939.4"
}
]
}