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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: 9-137710978-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137710978&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 137710978,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000460843.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Ala11Ala",
"transcript": "NM_024757.5",
"protein_id": "NP_079033.4",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 1298,
"cds_start": 33,
"cds_end": null,
"cds_length": 3897,
"cdna_start": 57,
"cdna_end": null,
"cdna_length": 5095,
"mane_select": "ENST00000460843.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Ala11Ala",
"transcript": "ENST00000460843.6",
"protein_id": "ENSP00000417980.1",
"transcript_support_level": 5,
"aa_start": 11,
"aa_end": null,
"aa_length": 1298,
"cds_start": 33,
"cds_end": null,
"cds_length": 3897,
"cdna_start": 57,
"cdna_end": null,
"cdna_length": 5095,
"mane_select": "NM_024757.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Ala11Ala",
"transcript": "ENST00000462484.5",
"protein_id": "ENSP00000417328.1",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 808,
"cds_start": 33,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 70,
"cdna_end": null,
"cdna_length": 2707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Ala11Ala",
"transcript": "NM_001354263.2",
"protein_id": "NP_001341192.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 1291,
"cds_start": 33,
"cds_end": null,
"cds_length": 3876,
"cdna_start": 57,
"cdna_end": null,
"cdna_length": 5074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Ala11Ala",
"transcript": "NM_001145527.2",
"protein_id": "NP_001138999.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 808,
"cds_start": 33,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 57,
"cdna_end": null,
"cdna_length": 2694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Ala11Ala",
"transcript": "NM_001354611.2",
"protein_id": "NP_001341540.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 556,
"cds_start": 33,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 57,
"cdna_end": null,
"cdna_length": 3627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Ala11Ala",
"transcript": "ENST00000629335.2",
"protein_id": "ENSP00000490056.1",
"transcript_support_level": 5,
"aa_start": 11,
"aa_end": null,
"aa_length": 556,
"cds_start": 33,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 49,
"cdna_end": null,
"cdna_length": 3600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.144G>A",
"hgvs_p": "p.Ala48Ala",
"transcript": "ENST00000460486.3",
"protein_id": "ENSP00000486969.1",
"transcript_support_level": 5,
"aa_start": 48,
"aa_end": null,
"aa_length": 267,
"cds_start": 144,
"cds_end": null,
"cds_length": 805,
"cdna_start": 157,
"cdna_end": null,
"cdna_length": 818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.42G>A",
"hgvs_p": "p.Ala14Ala",
"transcript": "XM_011519021.4",
"protein_id": "XP_011517323.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 1301,
"cds_start": 42,
"cds_end": null,
"cds_length": 3906,
"cdna_start": 143,
"cdna_end": null,
"cdna_length": 5181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.39G>A",
"hgvs_p": "p.Ala13Ala",
"transcript": "XM_011519022.4",
"protein_id": "XP_011517324.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1300,
"cds_start": 39,
"cds_end": null,
"cds_length": 3903,
"cdna_start": 527,
"cdna_end": null,
"cdna_length": 5565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.24G>A",
"hgvs_p": "p.Ala8Ala",
"transcript": "XM_047423872.1",
"protein_id": "XP_047279828.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 1295,
"cds_start": 24,
"cds_end": null,
"cds_length": 3888,
"cdna_start": 160,
"cdna_end": null,
"cdna_length": 5198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.42G>A",
"hgvs_p": "p.Ala14Ala",
"transcript": "XM_011519023.4",
"protein_id": "XP_011517325.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 1294,
"cds_start": 42,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 143,
"cdna_end": null,
"cdna_length": 5160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.39G>A",
"hgvs_p": "p.Ala13Ala",
"transcript": "XM_017015134.2",
"protein_id": "XP_016870623.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1293,
"cds_start": 39,
"cds_end": null,
"cds_length": 3882,
"cdna_start": 527,
"cdna_end": null,
"cdna_length": 5544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.24G>A",
"hgvs_p": "p.Ala8Ala",
"transcript": "XM_047423873.1",
"protein_id": "XP_047279829.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 1288,
"cds_start": 24,
"cds_end": null,
"cds_length": 3867,
"cdna_start": 8301,
"cdna_end": null,
"cdna_length": 13318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.42G>A",
"hgvs_p": "p.Ala14Ala",
"transcript": "XM_047423874.1",
"protein_id": "XP_047279830.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 1275,
"cds_start": 42,
"cds_end": null,
"cds_length": 3828,
"cdna_start": 143,
"cdna_end": null,
"cdna_length": 5103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.24G>A",
"hgvs_p": "p.Ala8Ala",
"transcript": "XM_047423875.1",
"protein_id": "XP_047279831.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 1269,
"cds_start": 24,
"cds_end": null,
"cds_length": 3810,
"cdna_start": 160,
"cdna_end": null,
"cdna_length": 5120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.42G>A",
"hgvs_p": "p.Ala14Ala",
"transcript": "XM_047423876.1",
"protein_id": "XP_047279832.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 1268,
"cds_start": 42,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 143,
"cdna_end": null,
"cdna_length": 5082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.42G>A",
"hgvs_p": "p.Ala14Ala",
"transcript": "XM_047423880.1",
"protein_id": "XP_047279836.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 1253,
"cds_start": 42,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 143,
"cdna_end": null,
"cdna_length": 5037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Ala11Ala",
"transcript": "XM_024447678.2",
"protein_id": "XP_024303446.2",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 927,
"cds_start": 33,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 57,
"cdna_end": null,
"cdna_length": 3075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "n.85G>A",
"hgvs_p": null,
"transcript": "ENST00000636081.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "n.60G>A",
"hgvs_p": null,
"transcript": "ENST00000636186.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283411",
"gene_hgnc_id": null,
"hgvs_c": "n.103G>A",
"hgvs_p": null,
"transcript": "ENST00000636318.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "n.74G>A",
"hgvs_p": null,
"transcript": "ENST00000636376.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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],
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"computational_score_selected": -0.8199999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.82,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -17,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
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"effects": [
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"inheritance_mode": "AD",
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{
"score": -10,
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"BP6_Very_Strong"
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"verdict": "Benign",
"transcript": "ENST00000636318.1",
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"effects": [
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],
"clinvar_disease": "Inborn genetic diseases,Kleefstra syndrome 1",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Kleefstra syndrome 1|Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}