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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: 15-33841953-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=33841953&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 33841953,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000634891.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 91,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.13127G>A",
"hgvs_p": "p.Arg4376Gln",
"transcript": "NM_001036.6",
"protein_id": "NP_001027.3",
"transcript_support_level": null,
"aa_start": 4376,
"aa_end": null,
"aa_length": 4870,
"cds_start": 13127,
"cds_end": null,
"cds_length": 14613,
"cdna_start": 13206,
"cdna_end": null,
"cdna_length": 15568,
"mane_select": "ENST00000634891.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 91,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.13127G>A",
"hgvs_p": "p.Arg4376Gln",
"transcript": "ENST00000634891.2",
"protein_id": "ENSP00000489262.1",
"transcript_support_level": 1,
"aa_start": 4376,
"aa_end": null,
"aa_length": 4870,
"cds_start": 13127,
"cds_end": null,
"cds_length": 14613,
"cdna_start": 13206,
"cdna_end": null,
"cdna_length": 15568,
"mane_select": "NM_001036.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 91,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.13124G>A",
"hgvs_p": "p.Arg4375Gln",
"transcript": "ENST00000389232.9",
"protein_id": "ENSP00000373884.5",
"transcript_support_level": 5,
"aa_start": 4375,
"aa_end": null,
"aa_length": 4869,
"cds_start": 13124,
"cds_end": null,
"cds_length": 14610,
"cdna_start": 13194,
"cdna_end": null,
"cdna_length": 15552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 90,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.13112G>A",
"hgvs_p": "p.Arg4371Gln",
"transcript": "NM_001243996.4",
"protein_id": "NP_001230925.1",
"transcript_support_level": null,
"aa_start": 4371,
"aa_end": null,
"aa_length": 4865,
"cds_start": 13112,
"cds_end": null,
"cds_length": 14598,
"cdna_start": 13191,
"cdna_end": null,
"cdna_length": 15553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 90,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.13112G>A",
"hgvs_p": "p.Arg4371Gln",
"transcript": "ENST00000415757.7",
"protein_id": "ENSP00000399610.3",
"transcript_support_level": 2,
"aa_start": 4371,
"aa_end": null,
"aa_length": 4865,
"cds_start": 13112,
"cds_end": null,
"cds_length": 14598,
"cdna_start": 13196,
"cdna_end": null,
"cdna_length": 15557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.13094G>A",
"hgvs_p": "p.Arg4365Gln",
"transcript": "ENST00000634418.1",
"protein_id": "ENSP00000489529.1",
"transcript_support_level": 5,
"aa_start": 4365,
"aa_end": null,
"aa_length": 4859,
"cds_start": 13094,
"cds_end": null,
"cds_length": 14580,
"cdna_start": 13094,
"cdna_end": null,
"cdna_length": 15078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.449G>A",
"hgvs_p": "p.Arg150Gln",
"transcript": "ENST00000634730.1",
"protein_id": "ENSP00000489346.1",
"transcript_support_level": 5,
"aa_start": 150,
"aa_end": null,
"aa_length": 615,
"cds_start": 449,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 449,
"cdna_end": null,
"cdna_length": 2743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 90,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.13115G>A",
"hgvs_p": "p.Arg4372Gln",
"transcript": "XM_017022468.2",
"protein_id": "XP_016877957.1",
"transcript_support_level": null,
"aa_start": 4372,
"aa_end": null,
"aa_length": 4866,
"cds_start": 13115,
"cds_end": null,
"cds_length": 14601,
"cdna_start": 13194,
"cdna_end": null,
"cdna_length": 15556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 90,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.13112G>A",
"hgvs_p": "p.Arg4371Gln",
"transcript": "XM_017022469.2",
"protein_id": "XP_016877958.1",
"transcript_support_level": null,
"aa_start": 4371,
"aa_end": null,
"aa_length": 4865,
"cds_start": 13112,
"cds_end": null,
"cds_length": 14598,
"cdna_start": 13191,
"cdna_end": null,
"cdna_length": 15553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 90,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.13112G>A",
"hgvs_p": "p.Arg4371Gln",
"transcript": "XM_017022470.3",
"protein_id": "XP_016877959.1",
"transcript_support_level": null,
"aa_start": 4371,
"aa_end": null,
"aa_length": 4865,
"cds_start": 13112,
"cds_end": null,
"cds_length": 14598,
"cdna_start": 16614,
"cdna_end": null,
"cdna_length": 18976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 90,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.13112G>A",
"hgvs_p": "p.Arg4371Gln",
"transcript": "XM_017022471.2",
"protein_id": "XP_016877960.1",
"transcript_support_level": null,
"aa_start": 4371,
"aa_end": null,
"aa_length": 4865,
"cds_start": 13112,
"cds_end": null,
"cds_length": 14598,
"cdna_start": 13191,
"cdna_end": null,
"cdna_length": 15553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 90,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.13109G>A",
"hgvs_p": "p.Arg4370Gln",
"transcript": "XM_017022472.2",
"protein_id": "XP_016877961.1",
"transcript_support_level": null,
"aa_start": 4370,
"aa_end": null,
"aa_length": 4864,
"cds_start": 13109,
"cds_end": null,
"cds_length": 14595,
"cdna_start": 13188,
"cdna_end": null,
"cdna_length": 15550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 90,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.13109G>A",
"hgvs_p": "p.Arg4370Gln",
"transcript": "XM_024450015.2",
"protein_id": "XP_024305783.1",
"transcript_support_level": null,
"aa_start": 4370,
"aa_end": null,
"aa_length": 4864,
"cds_start": 13109,
"cds_end": null,
"cds_length": 14595,
"cdna_start": 13188,
"cdna_end": null,
"cdna_length": 15550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 90,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.13106G>A",
"hgvs_p": "p.Arg4369Gln",
"transcript": "XM_024450016.2",
"protein_id": "XP_024305784.1",
"transcript_support_level": null,
"aa_start": 4369,
"aa_end": null,
"aa_length": 4863,
"cds_start": 13106,
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"cds_length": 14592,
"cdna_start": 13185,
"cdna_end": null,
"cdna_length": 15547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.13097G>A",
"hgvs_p": "p.Arg4366Gln",
"transcript": "XM_017022473.2",
"protein_id": "XP_016877962.1",
"transcript_support_level": null,
"aa_start": 4366,
"aa_end": null,
"aa_length": 4860,
"cds_start": 13097,
"cds_end": null,
"cds_length": 14583,
"cdna_start": 13176,
"cdna_end": null,
"cdna_length": 15538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.13094G>A",
"hgvs_p": "p.Arg4365Gln",
"transcript": "XM_011521880.3",
"protein_id": "XP_011520182.1",
"transcript_support_level": null,
"aa_start": 4365,
"aa_end": null,
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"cds_start": 13094,
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"cdna_start": 13173,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 90,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.13094G>A",
"hgvs_p": "p.Arg4365Gln",
"transcript": "XM_017022474.2",
"protein_id": "XP_016877963.1",
"transcript_support_level": null,
"aa_start": 4365,
"aa_end": null,
"aa_length": 4859,
"cds_start": 13094,
"cds_end": null,
"cds_length": 14580,
"cdna_start": 13351,
"cdna_end": null,
"cdna_length": 15713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 90,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.13115G>A",
"hgvs_p": "p.Arg4372Gln",
"transcript": "XM_047432931.1",
"protein_id": "XP_047288887.1",
"transcript_support_level": null,
"aa_start": 4372,
"aa_end": null,
"aa_length": 4838,
"cds_start": 13115,
"cds_end": null,
"cds_length": 14517,
"cdna_start": 13194,
"cdna_end": null,
"cdna_length": 16497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 90,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.13115G>A",
"hgvs_p": "p.Arg4372Gln",
"transcript": "XM_017022475.2",
"protein_id": "XP_016877964.1",
"transcript_support_level": null,
"aa_start": 4372,
"aa_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 101,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.13097G>A",
"hgvs_p": "p.Arg4366Gln",
"transcript": "XM_047432932.1",
"protein_id": "XP_047288888.1",
"transcript_support_level": null,
"aa_start": 4366,
"aa_end": null,
"aa_length": 4831,
"cds_start": 13097,
"cds_end": null,
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"cdna_start": 13176,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.13007G>A",
"hgvs_p": "p.Arg4336Gln",
"transcript": "XM_017022476.2",
"protein_id": "XP_016877965.1",
"transcript_support_level": null,
"aa_start": 4336,
"aa_end": null,
"aa_length": 4830,
"cds_start": 13007,
"cds_end": null,
"cds_length": 14493,
"cdna_start": 13086,
"cdna_end": null,
"cdna_length": 15448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 90,
"exon_rank_end": null,
"exon_count": 91,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.13115G>A",
"hgvs_p": "p.Arg4372Gln",
"transcript": "XM_047432933.1",
"protein_id": "XP_047288889.1",
"transcript_support_level": null,
"aa_start": 4372,
"aa_end": null,
"aa_length": 4402,
"cds_start": 13115,
"cds_end": null,
"cds_length": 13209,
"cdna_start": 13194,
"cdna_end": null,
"cdna_length": 13377,
"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": 5,
"exon_rank_end": null,
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"intron_rank": null,
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Uncertain_significance",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.785,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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{
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"verdict": "Likely_benign",
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"effects": [
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],
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],
"clinvar_disease": "Epileptic encephalopathy",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Epileptic encephalopathy",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}