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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: 14-50182520-CAT-ACG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=50182520&ref=CAT&alt=ACG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1_Very_Strong",
"PM1",
"PM5",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SOS2",
"hgnc_id": 11188,
"hgvs_c": "c.799_801delATGinsCGT",
"hgvs_p": "p.Met267Arg",
"inheritance_mode": "AD",
"pathogenic_score": 13,
"score": 13,
"transcript": "NM_006939.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS1_Very_Strong,PM1,PM5,PP3",
"acmg_score": 13,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ACG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1332,
"aa_ref": "M",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5508,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 3999,
"cds_start": 799,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006939.4",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.799_801delATGinsCGT",
"hgvs_p": "p.Met267Arg",
"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": "R",
"aa_end": null,
"aa_length": 1332,
"aa_ref": "M",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5508,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 3999,
"cds_start": 799,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000216373.10",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.799_801delATGinsCGT",
"hgvs_p": "p.Met267Arg",
"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": "R",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "M",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3960,
"cdna_start": 827,
"cds_end": null,
"cds_length": 3900,
"cds_start": 799,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000543680.5",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.799_801delATGinsCGT",
"hgvs_p": "p.Met267Arg",
"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": "R",
"aa_end": null,
"aa_length": 1379,
"aa_ref": "M",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5971,
"cdna_start": 1565,
"cds_end": null,
"cds_length": 4140,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934708.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.940_942delATGinsCGT",
"hgvs_p": "p.Met314Arg",
"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": "R",
"aa_end": null,
"aa_length": 1350,
"aa_ref": "M",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5862,
"cdna_start": 1456,
"cds_end": null,
"cds_length": 4053,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000953731.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.853_855delATGinsCGT",
"hgvs_p": "p.Met285Arg",
"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": "R",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "M",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5409,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 3900,
"cds_start": 799,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001411020.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.799_801delATGinsCGT",
"hgvs_p": "p.Met267Arg",
"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": "R",
"aa_end": null,
"aa_length": 1295,
"aa_ref": "M",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5392,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 3888,
"cds_start": 799,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000953732.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.799_801delATGinsCGT",
"hgvs_p": "p.Met267Arg",
"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": "R",
"aa_end": null,
"aa_length": 1293,
"aa_ref": "M",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5186,
"cdna_start": 1090,
"cds_end": null,
"cds_length": 3882,
"cds_start": 799,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000953735.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.799_801delATGinsCGT",
"hgvs_p": "p.Met267Arg",
"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": "R",
"aa_end": null,
"aa_length": 1264,
"aa_ref": "M",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5177,
"cdna_start": 769,
"cds_end": null,
"cds_length": 3795,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000953734.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.595_597delATGinsCGT",
"hgvs_p": "p.Met199Arg",
"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": "R",
"aa_end": null,
"aa_length": 1191,
"aa_ref": "M",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4903,
"cdna_start": 676,
"cds_end": null,
"cds_length": 3576,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934709.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.376_378delATGinsCGT",
"hgvs_p": "p.Met126Arg",
"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": "R",
"aa_end": null,
"aa_length": 1397,
"aa_ref": "M",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5703,
"cdna_start": 1291,
"cds_end": null,
"cds_length": 4194,
"cds_start": 994,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047431713.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.994_996delATGinsCGT",
"hgvs_p": "p.Met332Arg",
"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": "R",
"aa_end": null,
"aa_length": 1379,
"aa_ref": "M",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5649,
"cdna_start": 1237,
"cds_end": null,
"cds_length": 4140,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047431714.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.940_942delATGinsCGT",
"hgvs_p": "p.Met314Arg",
"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": "R",
"aa_end": null,
"aa_length": 1364,
"aa_ref": "M",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5604,
"cdna_start": 1291,
"cds_end": null,
"cds_length": 4095,
"cds_start": 994,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047431715.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.994_996delATGinsCGT",
"hgvs_p": "p.Met332Arg",
"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": "R",
"aa_end": null,
"aa_length": 1350,
"aa_ref": "M",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5562,
"cdna_start": 1150,
"cds_end": null,
"cds_length": 4053,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047431716.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.853_855delATGinsCGT",
"hgvs_p": "p.Met285Arg",
"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": "R",
"aa_end": null,
"aa_length": 1346,
"aa_ref": "M",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5550,
"cdna_start": 1237,
"cds_end": null,
"cds_length": 4041,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047431717.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.940_942delATGinsCGT",
"hgvs_p": "p.Met314Arg",
"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": "R",
"aa_end": null,
"aa_length": 1337,
"aa_ref": "M",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5621,
"cdna_start": 1209,
"cds_end": null,
"cds_length": 4014,
"cds_start": 814,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047431718.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.814_816delATGinsCGT",
"hgvs_p": "p.Met272Arg",
"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": "R",
"aa_end": null,
"aa_length": 1319,
"aa_ref": "M",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5567,
"cdna_start": 1155,
"cds_end": null,
"cds_length": 3960,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047431719.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.760_762delATGinsCGT",
"hgvs_p": "p.Met254Arg",
"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": "R",
"aa_end": null,
"aa_length": 1290,
"aa_ref": "M",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5461,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 3873,
"cds_start": 673,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047431722.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.673_675delATGinsCGT",
"hgvs_p": "p.Met225Arg",
"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": "R",
"aa_end": null,
"aa_length": 1290,
"aa_ref": "M",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5290,
"cdna_start": 878,
"cds_end": null,
"cds_length": 3873,
"cds_start": 673,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047431723.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.673_675delATGinsCGT",
"hgvs_p": "p.Met225Arg",
"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
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1284,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5277,
"cdna_start": null,
"cds_end": null,
"cds_length": 3855,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000953733.1",
"gene_hgnc_id": 11188,
"gene_symbol": "SOS2",
"hgvs_c": "c.715-1840_715-1838delATGinsCGT",
"hgvs_p": null,
"intron_rank": 5,
"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": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 633,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
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