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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: 14-50150075-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=50150075&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 14,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SOS2",
"hgnc_id": 11188,
"hgvs_c": "c.2317G>C",
"hgvs_p": "p.Asp773His",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -14,
"transcript": "NM_006939.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BS2",
"acmg_score": -14,
"allele_count_reference_population": 116,
"alphamissense_prediction": null,
"alphamissense_score": 0.351,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.2,
"chr": "14",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Cardiovascular phenotype,Noonan syndrome,Noonan syndrome 9,SOS2-related disorder,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:5 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.12312662601470947,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1332,
"aa_ref": "D",
"aa_start": 773,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5508,
"cdna_start": 2612,
"cds_end": null,
"cds_length": 3999,
"cds_start": 2317,
"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.2317G>C",
"hgvs_p": "p.Asp773His",
"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": "H",
"aa_end": null,
"aa_length": 1332,
"aa_ref": "D",
"aa_start": 773,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5508,
"cdna_start": 2612,
"cds_end": null,
"cds_length": 3999,
"cds_start": 2317,
"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.2317G>C",
"hgvs_p": "p.Asp773His",
"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": "H",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "D",
"aa_start": 740,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3960,
"cdna_start": 2244,
"cds_end": null,
"cds_length": 3900,
"cds_start": 2218,
"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.2218G>C",
"hgvs_p": "p.Asp740His",
"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": "H",
"aa_end": null,
"aa_length": 1379,
"aa_ref": "D",
"aa_start": 820,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5971,
"cdna_start": 3081,
"cds_end": null,
"cds_length": 4140,
"cds_start": 2458,
"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.2458G>C",
"hgvs_p": "p.Asp820His",
"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": "H",
"aa_end": null,
"aa_length": 1350,
"aa_ref": "D",
"aa_start": 791,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5862,
"cdna_start": 2972,
"cds_end": null,
"cds_length": 4053,
"cds_start": 2371,
"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.2371G>C",
"hgvs_p": "p.Asp791His",
"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": "H",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "D",
"aa_start": 740,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5409,
"cdna_start": 2513,
"cds_end": null,
"cds_length": 3900,
"cds_start": 2218,
"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.2218G>C",
"hgvs_p": "p.Asp740His",
"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": "H",
"aa_end": null,
"aa_length": 1295,
"aa_ref": "D",
"aa_start": 736,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5392,
"cdna_start": 2501,
"cds_end": null,
"cds_length": 3888,
"cds_start": 2206,
"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.2206G>C",
"hgvs_p": "p.Asp736His",
"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": "H",
"aa_end": null,
"aa_length": 1293,
"aa_ref": "D",
"aa_start": 773,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5186,
"cdna_start": 2606,
"cds_end": null,
"cds_length": 3882,
"cds_start": 2317,
"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.2317G>C",
"hgvs_p": "p.Asp773His",
"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": "H",
"aa_end": null,
"aa_length": 1284,
"aa_ref": "D",
"aa_start": 725,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5277,
"cdna_start": 2580,
"cds_end": null,
"cds_length": 3855,
"cds_start": 2173,
"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.2173G>C",
"hgvs_p": "p.Asp725His",
"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": "H",
"aa_end": null,
"aa_length": 1264,
"aa_ref": "D",
"aa_start": 705,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5177,
"cdna_start": 2285,
"cds_end": null,
"cds_length": 3795,
"cds_start": 2113,
"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.2113G>C",
"hgvs_p": "p.Asp705His",
"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": "H",
"aa_end": null,
"aa_length": 1191,
"aa_ref": "D",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4903,
"cdna_start": 2192,
"cds_end": null,
"cds_length": 3576,
"cds_start": 1894,
"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.1894G>C",
"hgvs_p": "p.Asp632His",
"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": "H",
"aa_end": null,
"aa_length": 1397,
"aa_ref": "D",
"aa_start": 838,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5703,
"cdna_start": 2807,
"cds_end": null,
"cds_length": 4194,
"cds_start": 2512,
"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.2512G>C",
"hgvs_p": "p.Asp838His",
"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": "H",
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"aa_length": 1379,
"aa_ref": "D",
"aa_start": 820,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5649,
"cdna_start": 2753,
"cds_end": null,
"cds_length": 4140,
"cds_start": 2458,
"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.2458G>C",
"hgvs_p": "p.Asp820His",
"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": "H",
"aa_end": null,
"aa_length": 1364,
"aa_ref": "D",
"aa_start": 805,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5604,
"cdna_start": 2708,
"cds_end": null,
"cds_length": 4095,
"cds_start": 2413,
"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.2413G>C",
"hgvs_p": "p.Asp805His",
"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": "H",
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"aa_length": 1350,
"aa_ref": "D",
"aa_start": 791,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5562,
"cdna_start": 2666,
"cds_end": null,
"cds_length": 4053,
"cds_start": 2371,
"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.2371G>C",
"hgvs_p": "p.Asp791His",
"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": "H",
"aa_end": null,
"aa_length": 1346,
"aa_ref": "D",
"aa_start": 787,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5550,
"cdna_start": 2654,
"cds_end": null,
"cds_length": 4041,
"cds_start": 2359,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047431717.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.2359G>C",
"hgvs_p": "p.Asp787His",
"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": "H",
"aa_end": null,
"aa_length": 1337,
"aa_ref": "D",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5621,
"cdna_start": 2725,
"cds_end": null,
"cds_length": 4014,
"cds_start": 2332,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047431718.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.2332G>C",
"hgvs_p": "p.Asp778His",
"intron_rank": null,
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"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": "H",
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"aa_ref": "D",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 2671,
"cds_end": null,
"cds_length": 3960,
"cds_start": 2278,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047431719.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.2278G>C",
"hgvs_p": "p.Asp760His",
"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": "H",
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"aa_ref": "D",
"aa_start": 731,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5461,
"cdna_start": 2565,
"cds_end": null,
"cds_length": 3873,
"cds_start": 2191,
"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.2191G>C",
"hgvs_p": "p.Asp731His",
"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": "H",
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"aa_length": 1290,
"aa_ref": "D",
"aa_start": 731,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5290,
"cdna_start": 2394,
"cds_end": null,
"cds_length": 3873,
"cds_start": 2191,
"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.2191G>C",
"hgvs_p": "p.Asp731His",
"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": "rs114711076",
"effect": "missense_variant",
"frequency_reference_population": 0.000071867296,
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"gnomad_exomes_ac": 54,
"gnomad_exomes_af": 0.000036941,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 62,
"gnomad_genomes_af": 0.000407102,
"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": "Benign/Likely benign",
"phenotype_combined": "not provided|Noonan syndrome|Noonan syndrome 9|not specified|SOS2-related disorder|Cardiovascular phenotype",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"pos": 50150075,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.191,
"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"
}
]
}