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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: 9-137813132-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137813132&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "EHMT1",
"hgnc_id": 24650,
"hgvs_c": "c.2994G>T",
"hgvs_p": "p.Ser998Ser",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_024757.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.85,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8500000238418579,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1298,
"aa_ref": "S",
"aa_start": 998,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5095,
"cdna_start": 3018,
"cds_end": null,
"cds_length": 3897,
"cds_start": 2994,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_024757.5",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.2994G>T",
"hgvs_p": "p.Ser998Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000460843.6",
"protein_coding": true,
"protein_id": "NP_079033.4",
"strand": true,
"transcript": "NM_024757.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1298,
"aa_ref": "S",
"aa_start": 998,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5095,
"cdna_start": 3018,
"cds_end": null,
"cds_length": 3897,
"cds_start": 2994,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000460843.6",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.2994G>T",
"hgvs_p": "p.Ser998Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024757.5",
"protein_coding": true,
"protein_id": "ENSP00000417980.1",
"strand": true,
"transcript": "ENST00000460843.6",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1251,
"aa_ref": "G",
"aa_start": 958,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4934,
"cdna_start": 2876,
"cds_end": null,
"cds_length": 3756,
"cds_start": 2872,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000918863.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.2872G>T",
"hgvs_p": "p.Gly958Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588922.1",
"strand": true,
"transcript": "ENST00000918863.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1322,
"aa_ref": "S",
"aa_start": 1022,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4789,
"cdna_start": 3103,
"cds_end": null,
"cds_length": 3969,
"cds_start": 3066,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000896765.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3066G>T",
"hgvs_p": "p.Ser1022Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566824.1",
"strand": true,
"transcript": "ENST00000896765.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1291,
"aa_ref": "S",
"aa_start": 991,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5074,
"cdna_start": 2997,
"cds_end": null,
"cds_length": 3876,
"cds_start": 2973,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001354263.2",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.2973G>T",
"hgvs_p": "p.Ser991Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341192.1",
"strand": true,
"transcript": "NM_001354263.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1290,
"aa_ref": "S",
"aa_start": 990,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5077,
"cdna_start": 3003,
"cds_end": null,
"cds_length": 3873,
"cds_start": 2970,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000896763.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.2970G>T",
"hgvs_p": "p.Ser990Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566822.1",
"strand": true,
"transcript": "ENST00000896763.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1276,
"aa_ref": "S",
"aa_start": 965,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5029,
"cdna_start": 2919,
"cds_end": null,
"cds_length": 3831,
"cds_start": 2895,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000918862.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.2895G>T",
"hgvs_p": "p.Ser965Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588921.1",
"strand": true,
"transcript": "ENST00000918862.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1267,
"aa_ref": "S",
"aa_start": 967,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5049,
"cdna_start": 2999,
"cds_end": null,
"cds_length": 3804,
"cds_start": 2901,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000637161.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.2901G>T",
"hgvs_p": "p.Ser967Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490328.1",
"strand": true,
"transcript": "ENST00000637161.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "S",
"aa_start": 965,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5021,
"cdna_start": 2947,
"cds_end": null,
"cds_length": 3798,
"cds_start": 2895,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000896761.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.2895G>T",
"hgvs_p": "p.Ser965Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566820.1",
"strand": true,
"transcript": "ENST00000896761.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1264,
"aa_ref": "S",
"aa_start": 964,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5003,
"cdna_start": 2929,
"cds_end": null,
"cds_length": 3795,
"cds_start": 2892,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000896762.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.2892G>T",
"hgvs_p": "p.Ser964Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566821.1",
"strand": true,
"transcript": "ENST00000896762.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1257,
"aa_ref": "S",
"aa_start": 957,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4566,
"cdna_start": 2884,
"cds_end": null,
"cds_length": 3774,
"cds_start": 2871,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000896766.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.2871G>T",
"hgvs_p": "p.Ser957Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566825.1",
"strand": true,
"transcript": "ENST00000896766.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1224,
"aa_ref": "S",
"aa_start": 924,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4891,
"cdna_start": 2814,
"cds_end": null,
"cds_length": 3675,
"cds_start": 2772,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000918861.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.2772G>T",
"hgvs_p": "p.Ser924Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588920.1",
"strand": true,
"transcript": "ENST00000918861.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1053,
"aa_ref": "S",
"aa_start": 753,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4356,
"cdna_start": 2292,
"cds_end": null,
"cds_length": 3162,
"cds_start": 2259,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000896764.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.2259G>T",
"hgvs_p": "p.Ser753Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566823.1",
"strand": true,
"transcript": "ENST00000896764.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 980,
"aa_ref": "S",
"aa_start": 960,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3114,
"cdna_start": 3049,
"cds_end": null,
"cds_length": 2945,
"cds_start": 2880,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000636027.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.2880G>T",
"hgvs_p": "p.Ser960Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489961.1",
"strand": true,
"transcript": "ENST00000636027.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1301,
"aa_ref": "S",
"aa_start": 1001,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5181,
"cdna_start": 3104,
"cds_end": null,
"cds_length": 3906,
"cds_start": 3003,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011519021.4",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3003G>T",
"hgvs_p": "p.Ser1001Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517323.1",
"strand": true,
"transcript": "XM_011519021.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1300,
"aa_ref": "S",
"aa_start": 1000,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5565,
"cdna_start": 3488,
"cds_end": null,
"cds_length": 3903,
"cds_start": 3000,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011519022.4",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3000G>T",
"hgvs_p": "p.Ser1000Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517324.1",
"strand": true,
"transcript": "XM_011519022.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1295,
"aa_ref": "S",
"aa_start": 995,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5198,
"cdna_start": 3121,
"cds_end": null,
"cds_length": 3888,
"cds_start": 2985,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_047423872.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.2985G>T",
"hgvs_p": "p.Ser995Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279828.1",
"strand": true,
"transcript": "XM_047423872.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1294,
"aa_ref": "S",
"aa_start": 994,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5160,
"cdna_start": 3083,
"cds_end": null,
"cds_length": 3885,
"cds_start": 2982,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011519023.4",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.2982G>T",
"hgvs_p": "p.Ser994Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517325.1",
"strand": true,
"transcript": "XM_011519023.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1293,
"aa_ref": "S",
"aa_start": 993,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5544,
"cdna_start": 3467,
"cds_end": null,
"cds_length": 3882,
"cds_start": 2979,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_017015134.2",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.2979G>T",
"hgvs_p": "p.Ser993Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870623.1",
"strand": true,
"transcript": "XM_017015134.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1288,
"aa_ref": "S",
"aa_start": 988,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13318,
"cdna_start": 11241,
"cds_end": null,
"cds_length": 3867,
"cds_start": 2964,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_047423873.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.2964G>T",
"hgvs_p": "p.Ser988Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279829.1",
"strand": true,
"transcript": "XM_047423873.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1275,
"aa_ref": "S",
"aa_start": 975,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5103,
"cdna_start": 3026,
"cds_end": null,
"cds_length": 3828,
"cds_start": 2925,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047423874.1",
"gene_hgnc_id": 24650,
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