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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: 9-137813060-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137813060&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 137813060,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000460843.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2922G>A",
"hgvs_p": "p.Thr974Thr",
"transcript": "NM_024757.5",
"protein_id": "NP_079033.4",
"transcript_support_level": null,
"aa_start": 974,
"aa_end": null,
"aa_length": 1298,
"cds_start": 2922,
"cds_end": null,
"cds_length": 3897,
"cdna_start": 2946,
"cdna_end": null,
"cdna_length": 5095,
"mane_select": "ENST00000460843.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2922G>A",
"hgvs_p": "p.Thr974Thr",
"transcript": "ENST00000460843.6",
"protein_id": "ENSP00000417980.1",
"transcript_support_level": 5,
"aa_start": 974,
"aa_end": null,
"aa_length": 1298,
"cds_start": 2922,
"cds_end": null,
"cds_length": 3897,
"cdna_start": 2946,
"cdna_end": null,
"cdna_length": 5095,
"mane_select": "NM_024757.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2901G>A",
"hgvs_p": "p.Thr967Thr",
"transcript": "NM_001354263.2",
"protein_id": "NP_001341192.1",
"transcript_support_level": null,
"aa_start": 967,
"aa_end": null,
"aa_length": 1291,
"cds_start": 2901,
"cds_end": null,
"cds_length": 3876,
"cdna_start": 2925,
"cdna_end": null,
"cdna_length": 5074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2829G>A",
"hgvs_p": "p.Thr943Thr",
"transcript": "ENST00000637161.1",
"protein_id": "ENSP00000490328.1",
"transcript_support_level": 5,
"aa_start": 943,
"aa_end": null,
"aa_length": 1267,
"cds_start": 2829,
"cds_end": null,
"cds_length": 3804,
"cdna_start": 2927,
"cdna_end": null,
"cdna_length": 5049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2808G>A",
"hgvs_p": "p.Thr936Thr",
"transcript": "ENST00000636027.1",
"protein_id": "ENSP00000489961.1",
"transcript_support_level": 5,
"aa_start": 936,
"aa_end": null,
"aa_length": 980,
"cds_start": 2808,
"cds_end": null,
"cds_length": 2945,
"cdna_start": 2977,
"cdna_end": null,
"cdna_length": 3114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2931G>A",
"hgvs_p": "p.Thr977Thr",
"transcript": "XM_011519021.4",
"protein_id": "XP_011517323.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1301,
"cds_start": 2931,
"cds_end": null,
"cds_length": 3906,
"cdna_start": 3032,
"cdna_end": null,
"cdna_length": 5181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2928G>A",
"hgvs_p": "p.Thr976Thr",
"transcript": "XM_011519022.4",
"protein_id": "XP_011517324.1",
"transcript_support_level": null,
"aa_start": 976,
"aa_end": null,
"aa_length": 1300,
"cds_start": 2928,
"cds_end": null,
"cds_length": 3903,
"cdna_start": 3416,
"cdna_end": null,
"cdna_length": 5565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2913G>A",
"hgvs_p": "p.Thr971Thr",
"transcript": "XM_047423872.1",
"protein_id": "XP_047279828.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 1295,
"cds_start": 2913,
"cds_end": null,
"cds_length": 3888,
"cdna_start": 3049,
"cdna_end": null,
"cdna_length": 5198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2910G>A",
"hgvs_p": "p.Thr970Thr",
"transcript": "XM_011519023.4",
"protein_id": "XP_011517325.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1294,
"cds_start": 2910,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 3011,
"cdna_end": null,
"cdna_length": 5160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2907G>A",
"hgvs_p": "p.Thr969Thr",
"transcript": "XM_017015134.2",
"protein_id": "XP_016870623.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 1293,
"cds_start": 2907,
"cds_end": null,
"cds_length": 3882,
"cdna_start": 3395,
"cdna_end": null,
"cdna_length": 5544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2892G>A",
"hgvs_p": "p.Thr964Thr",
"transcript": "XM_047423873.1",
"protein_id": "XP_047279829.1",
"transcript_support_level": null,
"aa_start": 964,
"aa_end": null,
"aa_length": 1288,
"cds_start": 2892,
"cds_end": null,
"cds_length": 3867,
"cdna_start": 11169,
"cdna_end": null,
"cdna_length": 13318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2853G>A",
"hgvs_p": "p.Thr951Thr",
"transcript": "XM_047423874.1",
"protein_id": "XP_047279830.1",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 1275,
"cds_start": 2853,
"cds_end": null,
"cds_length": 3828,
"cdna_start": 2954,
"cdna_end": null,
"cdna_length": 5103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2835G>A",
"hgvs_p": "p.Thr945Thr",
"transcript": "XM_047423875.1",
"protein_id": "XP_047279831.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 1269,
"cds_start": 2835,
"cds_end": null,
"cds_length": 3810,
"cdna_start": 2971,
"cdna_end": null,
"cdna_length": 5120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2832G>A",
"hgvs_p": "p.Thr944Thr",
"transcript": "XM_047423876.1",
"protein_id": "XP_047279832.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 1268,
"cds_start": 2832,
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"cds_length": 3807,
"cdna_start": 2933,
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"cdna_length": 5082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2829G>A",
"hgvs_p": "p.Thr943Thr",
"transcript": "XM_005266110.2",
"protein_id": "XP_005266167.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 1267,
"cds_start": 2829,
"cds_end": null,
"cds_length": 3804,
"cdna_start": 2882,
"cdna_end": null,
"cdna_length": 5031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2829G>A",
"hgvs_p": "p.Thr943Thr",
"transcript": "XM_047423877.1",
"protein_id": "XP_047279833.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
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"cds_start": 2829,
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"cdna_start": 3025,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2829G>A",
"hgvs_p": "p.Thr943Thr",
"transcript": "XM_047423878.1",
"protein_id": "XP_047279834.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 1267,
"cds_start": 2829,
"cds_end": null,
"cds_length": 3804,
"cdna_start": 2985,
"cdna_end": null,
"cdna_length": 5134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2808G>A",
"hgvs_p": "p.Thr936Thr",
"transcript": "XM_017015138.2",
"protein_id": "XP_016870627.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 1260,
"cds_start": 2808,
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"cds_length": 3783,
"cdna_start": 2861,
"cdna_end": null,
"cdna_length": 5010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2808G>A",
"hgvs_p": "p.Thr936Thr",
"transcript": "XM_047423879.1",
"protein_id": "XP_047279835.1",
"transcript_support_level": null,
"aa_start": 936,
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"cds_start": 2808,
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"cdna_start": 2928,
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"cdna_length": 5077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2787G>A",
"hgvs_p": "p.Thr929Thr",
"transcript": "XM_047423880.1",
"protein_id": "XP_047279836.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 1253,
"cds_start": 2787,
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"cdna_start": 2888,
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"cdna_length": 5037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2751G>A",
"hgvs_p": "p.Thr917Thr",
"transcript": "XM_047423881.1",
"protein_id": "XP_047279837.1",
"transcript_support_level": null,
"aa_start": 917,
"aa_end": null,
"aa_length": 1241,
"cds_start": 2751,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 2804,
"cdna_end": null,
"cdna_length": 4953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2730G>A",
"hgvs_p": "p.Thr910Thr",
"transcript": "XM_047423882.1",
"protein_id": "XP_047279838.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 1234,
"cds_start": 2730,
"cds_end": null,
"cds_length": 3705,
"cdna_start": 2783,
"cdna_end": null,
"cdna_length": 4932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
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],
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"computational_score_selected": -0.6800000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.152,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000460843.6",
"gene_symbol": "EHMT1",
"hgnc_id": 24650,
"effects": [
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],
"inheritance_mode": "AD",
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],
"clinvar_disease": "EHMT1-related disorder,Inborn genetic diseases,Kleefstra syndrome 1,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4",
"phenotype_combined": "Kleefstra syndrome 1|EHMT1-related disorder|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}