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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: 6-13599071-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=13599071&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 13599071,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000606117.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT5",
"gene_hgnc_id": 14933,
"hgvs_c": "c.657C>T",
"hgvs_p": "p.His219His",
"transcript": "NM_012241.5",
"protein_id": "NP_036373.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 310,
"cds_start": 657,
"cds_end": null,
"cds_length": 933,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 4564,
"mane_select": "ENST00000606117.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT5",
"gene_hgnc_id": 14933,
"hgvs_c": "c.657C>T",
"hgvs_p": "p.His219His",
"transcript": "ENST00000606117.2",
"protein_id": "ENSP00000476228.1",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 310,
"cds_start": 657,
"cds_end": null,
"cds_length": 933,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 4564,
"mane_select": "NM_012241.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT5",
"gene_hgnc_id": 14933,
"hgvs_c": "c.657C>T",
"hgvs_p": "p.His219His",
"transcript": "ENST00000397350.7",
"protein_id": "ENSP00000380509.3",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 310,
"cds_start": 657,
"cds_end": null,
"cds_length": 933,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 4553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT5",
"gene_hgnc_id": 14933,
"hgvs_c": "c.657C>T",
"hgvs_p": "p.His219His",
"transcript": "ENST00000379262.8",
"protein_id": "ENSP00000368564.4",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 299,
"cds_start": 657,
"cds_end": null,
"cds_length": 900,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 2339,
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT5",
"gene_hgnc_id": 14933,
"hgvs_c": "n.*283C>T",
"hgvs_p": null,
"transcript": "ENST00000379250.10",
"protein_id": "ENSP00000368552.5",
"transcript_support_level": 1,
"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": 3727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT5",
"gene_hgnc_id": 14933,
"hgvs_c": "n.*283C>T",
"hgvs_p": null,
"transcript": "ENST00000379250.10",
"protein_id": "ENSP00000368552.5",
"transcript_support_level": 1,
"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": 3727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT5",
"gene_hgnc_id": 14933,
"hgvs_c": "c.657C>T",
"hgvs_p": "p.His219His",
"transcript": "ENST00000680852.1",
"protein_id": "ENSP00000505346.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 313,
"cds_start": 657,
"cds_end": null,
"cds_length": 942,
"cdna_start": 892,
"cdna_end": null,
"cdna_length": 3401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT5",
"gene_hgnc_id": 14933,
"hgvs_c": "c.657C>T",
"hgvs_p": "p.His219His",
"transcript": "NM_001376798.1",
"protein_id": "NP_001363727.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 310,
"cds_start": 657,
"cds_end": null,
"cds_length": 933,
"cdna_start": 946,
"cdna_end": null,
"cdna_length": 3464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT5",
"gene_hgnc_id": 14933,
"hgvs_c": "c.657C>T",
"hgvs_p": "p.His219His",
"transcript": "NM_001376799.1",
"protein_id": "NP_001363728.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 310,
"cds_start": 657,
"cds_end": null,
"cds_length": 933,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 3402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT5",
"gene_hgnc_id": 14933,
"hgvs_c": "c.657C>T",
"hgvs_p": "p.His219His",
"transcript": "NM_001376800.1",
"protein_id": "NP_001363729.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 310,
"cds_start": 657,
"cds_end": null,
"cds_length": 933,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 3523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT5",
"gene_hgnc_id": 14933,
"hgvs_c": "c.657C>T",
"hgvs_p": "p.His219His",
"transcript": "NM_001376801.1",
"protein_id": "NP_001363730.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 310,
"cds_start": 657,
"cds_end": null,
"cds_length": 933,
"cdna_start": 1067,
"cdna_end": null,
"cdna_length": 3585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT5",
"gene_hgnc_id": 14933,
"hgvs_c": "c.657C>T",
"hgvs_p": "p.His219His",
"transcript": "NM_001376802.1",
"protein_id": "NP_001363731.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 310,
"cds_start": 657,
"cds_end": null,
"cds_length": 933,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 3234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT5",
"gene_hgnc_id": 14933,
"hgvs_c": "c.657C>T",
"hgvs_p": "p.His219His",
"transcript": "NM_001376803.1",
"protein_id": "NP_001363732.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 310,
"cds_start": 657,
"cds_end": null,
"cds_length": 933,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 3393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT5",
"gene_hgnc_id": 14933,
"hgvs_c": "c.657C>T",
"hgvs_p": "p.His219His",
"transcript": "NM_001376804.1",
"protein_id": "NP_001363733.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 310,
"cds_start": 657,
"cds_end": null,
"cds_length": 933,
"cdna_start": 891,
"cdna_end": null,
"cdna_length": 3409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT5",
"gene_hgnc_id": 14933,
"hgvs_c": "c.657C>T",
"hgvs_p": "p.His219His",
"transcript": "NM_001376805.1",
"protein_id": "NP_001363734.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 310,
"cds_start": 657,
"cds_end": null,
"cds_length": 933,
"cdna_start": 950,
"cdna_end": null,
"cdna_length": 3468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT5",
"gene_hgnc_id": 14933,
"hgvs_c": "c.657C>T",
"hgvs_p": "p.His219His",
"transcript": "NM_001376806.1",
"protein_id": "NP_001363735.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 310,
"cds_start": 657,
"cds_end": null,
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"cdna_start": 917,
"cdna_end": null,
"cdna_length": 3435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT5",
"gene_hgnc_id": 14933,
"hgvs_c": "c.657C>T",
"hgvs_p": "p.His219His",
"transcript": "NM_001376807.1",
"protein_id": "NP_001363736.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 310,
"cds_start": 657,
"cds_end": null,
"cds_length": 933,
"cdna_start": 1083,
"cdna_end": null,
"cdna_length": 3601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT5",
"gene_hgnc_id": 14933,
"hgvs_c": "c.657C>T",
"hgvs_p": "p.His219His",
"transcript": "ENST00000680151.1",
"protein_id": "ENSP00000505086.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 310,
"cds_start": 657,
"cds_end": null,
"cds_length": 933,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 1593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT5",
"gene_hgnc_id": 14933,
"hgvs_c": "c.657C>T",
"hgvs_p": "p.His219His",
"transcript": "ENST00000680432.1",
"protein_id": "ENSP00000505496.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 310,
"cds_start": 657,
"cds_end": null,
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"cdna_start": 931,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT5",
"gene_hgnc_id": 14933,
"hgvs_c": "c.657C>T",
"hgvs_p": "p.His219His",
"transcript": "NM_001376808.1",
"protein_id": "NP_001363737.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 299,
"cds_start": 657,
"cds_end": null,
"cds_length": 900,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 2609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT5",
"gene_hgnc_id": 14933,
"hgvs_c": "c.657C>T",
"hgvs_p": "p.His219His",
"transcript": "NM_031244.3",
"protein_id": "NP_112534.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 299,
"cds_start": 657,
"cds_end": null,
"cds_length": 900,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 2411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT5",
"gene_hgnc_id": 14933,
"hgvs_c": "c.657C>T",
"hgvs_p": "p.His219His",
"transcript": "ENST00000680707.1",
"protein_id": "ENSP00000505469.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 299,
"cds_start": 657,
"cds_end": null,
"cds_length": 900,
"cdna_start": 1123,
"cdna_end": null,
"cdna_length": 2557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT5",
"gene_hgnc_id": 14933,
"hgvs_c": "c.603C>T",
"hgvs_p": "p.His201His",
"transcript": "NM_001193267.2",
"protein_id": "NP_001180196.1",
"transcript_support_level": null,
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{
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{
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{
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.14,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.15,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"acmg_score": -13,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
"BP4_Strong",
"BP7",
"BA1"
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"verdict": "Benign",
"transcript": "ENST00000606117.2",
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"effects": [
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{
"score": -12,
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"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_001743983.2",
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"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1471G>A",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}