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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: 8-90017312-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=90017312&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 90017312,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001359.2",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "C",
"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": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "c.258C>T",
"hgvs_p": "p.Cys86Cys",
"transcript": "NM_001359.2",
"protein_id": "NP_001350.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 335,
"cds_start": 258,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000220764.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001359.2"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": true,
"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": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "c.258C>T",
"hgvs_p": "p.Cys86Cys",
"transcript": "ENST00000220764.7",
"protein_id": "ENSP00000220764.2",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 335,
"cds_start": 258,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001359.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000220764.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "n.70-1597C>T",
"hgvs_p": null,
"transcript": "ENST00000519328.5",
"protein_id": "ENSP00000431045.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000519328.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Arg29Cys",
"transcript": "ENST00000886504.1",
"protein_id": "ENSP00000556563.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 276,
"cds_start": 85,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886504.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "c.258C>T",
"hgvs_p": "p.Cys86Cys",
"transcript": "ENST00000886497.1",
"protein_id": "ENSP00000556556.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 345,
"cds_start": 258,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886497.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"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": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "c.258C>T",
"hgvs_p": "p.Cys86Cys",
"transcript": "ENST00000934678.1",
"protein_id": "ENSP00000604737.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 334,
"cds_start": 258,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934678.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"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": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "c.258C>T",
"hgvs_p": "p.Cys86Cys",
"transcript": "ENST00000965487.1",
"protein_id": "ENSP00000635546.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 333,
"cds_start": 258,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965487.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "c.231C>T",
"hgvs_p": "p.Cys77Cys",
"transcript": "NM_001330575.2",
"protein_id": "NP_001317504.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 326,
"cds_start": 231,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330575.2"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "c.231C>T",
"hgvs_p": "p.Cys77Cys",
"transcript": "ENST00000522161.5",
"protein_id": "ENSP00000429779.1",
"transcript_support_level": 2,
"aa_start": 77,
"aa_end": null,
"aa_length": 326,
"cds_start": 231,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522161.5"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "c.258C>T",
"hgvs_p": "p.Cys86Cys",
"transcript": "ENST00000886501.1",
"protein_id": "ENSP00000556560.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 314,
"cds_start": 258,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886501.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "c.258C>T",
"hgvs_p": "p.Cys86Cys",
"transcript": "ENST00000886500.1",
"protein_id": "ENSP00000556559.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 298,
"cds_start": 258,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886500.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "c.258C>T",
"hgvs_p": "p.Cys86Cys",
"transcript": "ENST00000886503.1",
"protein_id": "ENSP00000556562.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 286,
"cds_start": 258,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886503.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "c.231C>T",
"hgvs_p": "p.Cys77Cys",
"transcript": "ENST00000517761.5",
"protein_id": "ENSP00000427936.1",
"transcript_support_level": 3,
"aa_start": 77,
"aa_end": null,
"aa_length": 204,
"cds_start": 231,
"cds_end": null,
"cds_length": 616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517761.5"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "c.192C>T",
"hgvs_p": "p.Cys64Cys",
"transcript": "ENST00000519410.5",
"protein_id": "ENSP00000430561.1",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 180,
"cds_start": 192,
"cds_end": null,
"cds_length": 544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519410.5"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "c.108C>T",
"hgvs_p": "p.Cys36Cys",
"transcript": "ENST00000520227.1",
"protein_id": "ENSP00000429096.1",
"transcript_support_level": 5,
"aa_start": 36,
"aa_end": null,
"aa_length": 150,
"cds_start": 108,
"cds_end": null,
"cds_length": 454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520227.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "c.231C>T",
"hgvs_p": "p.Cys77Cys",
"transcript": "XM_011516880.4",
"protein_id": "XP_011515182.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 326,
"cds_start": 231,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516880.4"
},
{
"aa_ref": "C",
"aa_alt": "C",
"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": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "c.231C>T",
"hgvs_p": "p.Cys77Cys",
"transcript": "XM_047421409.1",
"protein_id": "XP_047277365.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 326,
"cds_start": 231,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421409.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "c.231C>T",
"hgvs_p": "p.Cys77Cys",
"transcript": "XM_047421410.1",
"protein_id": "XP_047277366.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 326,
"cds_start": 231,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421410.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "c.70-1574C>T",
"hgvs_p": null,
"transcript": "ENST00000934679.1",
"protein_id": "ENSP00000604738.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": null,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934679.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "c.70-1601C>T",
"hgvs_p": null,
"transcript": "ENST00000886498.1",
"protein_id": "ENSP00000556557.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 266,
"cds_start": null,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886498.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "c.70-1774C>T",
"hgvs_p": null,
"transcript": "ENST00000886502.1",
"protein_id": "ENSP00000556561.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": null,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886502.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "c.70-3597C>T",
"hgvs_p": null,
"transcript": "ENST00000886499.1",
"protein_id": "ENSP00000556558.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 219,
"cds_start": null,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886499.1"
},
{
"aa_ref": null,
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"canonical": false,
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],
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"computational_score_selected": -0.30000001192092896,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.081,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.08,
"spliceai_max_prediction": "Benign",
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate",
"BP6",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001359.2",
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"effects": [
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],
"inheritance_mode": "Unknown,AR",
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"hgvs_p": "p.Cys86Cys"
}
],
"clinvar_disease": "DECR1-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "DECR1-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}