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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: 12-23534294-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=23534294&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 23534294,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_006940.6",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.2217C>T",
"hgvs_p": "p.Tyr739Tyr",
"transcript": "NM_006940.6",
"protein_id": "NP_008871.3",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 763,
"cds_start": 2217,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000451604.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006940.6"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.2217C>T",
"hgvs_p": "p.Tyr739Tyr",
"transcript": "ENST00000451604.7",
"protein_id": "ENSP00000398273.2",
"transcript_support_level": 1,
"aa_start": 739,
"aa_end": null,
"aa_length": 763,
"cds_start": 2217,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006940.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451604.7"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.1059C>T",
"hgvs_p": "p.Tyr353Tyr",
"transcript": "ENST00000396007.6",
"protein_id": "ENSP00000379328.2",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 377,
"cds_start": 1059,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396007.6"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.2217C>T",
"hgvs_p": "p.Tyr739Tyr",
"transcript": "ENST00000900854.1",
"protein_id": "ENSP00000570913.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 763,
"cds_start": 2217,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900854.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.2217C>T",
"hgvs_p": "p.Tyr739Tyr",
"transcript": "ENST00000900855.1",
"protein_id": "ENSP00000570914.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 763,
"cds_start": 2217,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900855.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.2217C>T",
"hgvs_p": "p.Tyr739Tyr",
"transcript": "ENST00000943211.1",
"protein_id": "ENSP00000613270.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 763,
"cds_start": 2217,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943211.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.2187C>T",
"hgvs_p": "p.Tyr729Tyr",
"transcript": "NM_001261415.3",
"protein_id": "NP_001248344.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 753,
"cds_start": 2187,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261415.3"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.2187C>T",
"hgvs_p": "p.Tyr729Tyr",
"transcript": "ENST00000545921.5",
"protein_id": "ENSP00000443520.1",
"transcript_support_level": 2,
"aa_start": 729,
"aa_end": null,
"aa_length": 753,
"cds_start": 2187,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545921.5"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.2178C>T",
"hgvs_p": "p.Tyr726Tyr",
"transcript": "NM_152989.5",
"protein_id": "NP_694534.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 750,
"cds_start": 2178,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152989.5"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.2112C>T",
"hgvs_p": "p.Tyr704Tyr",
"transcript": "NM_001330785.2",
"protein_id": "NP_001317714.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 728,
"cds_start": 2112,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330785.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.2112C>T",
"hgvs_p": "p.Tyr704Tyr",
"transcript": "ENST00000537393.5",
"protein_id": "ENSP00000439832.1",
"transcript_support_level": 5,
"aa_start": 704,
"aa_end": null,
"aa_length": 728,
"cds_start": 2112,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537393.5"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.2073C>T",
"hgvs_p": "p.Tyr691Tyr",
"transcript": "ENST00000704299.1",
"protein_id": "ENSP00000515823.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 715,
"cds_start": 2073,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704299.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.1854C>T",
"hgvs_p": "p.Tyr618Tyr",
"transcript": "NM_001261414.3",
"protein_id": "NP_001248343.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 642,
"cds_start": 1854,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261414.3"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.1854C>T",
"hgvs_p": "p.Tyr618Tyr",
"transcript": "ENST00000646273.1",
"protein_id": "ENSP00000493866.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 642,
"cds_start": 1854,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646273.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.1059C>T",
"hgvs_p": "p.Tyr353Tyr",
"transcript": "NM_178010.4",
"protein_id": "NP_821078.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 377,
"cds_start": 1059,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178010.4"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.969C>T",
"hgvs_p": "p.Tyr323Tyr",
"transcript": "ENST00000704296.1",
"protein_id": "ENSP00000515820.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 347,
"cds_start": 969,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704296.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.2412C>T",
"hgvs_p": "p.Tyr804Tyr",
"transcript": "XM_011520832.3",
"protein_id": "XP_011519134.2",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 828,
"cds_start": 2412,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520832.3"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.2409C>T",
"hgvs_p": "p.Tyr803Tyr",
"transcript": "XM_047429451.1",
"protein_id": "XP_047285407.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 827,
"cds_start": 2409,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429451.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.2307C>T",
"hgvs_p": "p.Tyr769Tyr",
"transcript": "XM_017019888.2",
"protein_id": "XP_016875377.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 793,
"cds_start": 2307,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019888.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.2304C>T",
"hgvs_p": "p.Tyr768Tyr",
"transcript": "XM_017019889.2",
"protein_id": "XP_016875378.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 792,
"cds_start": 2304,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019889.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.2292C>T",
"hgvs_p": "p.Tyr764Tyr",
"transcript": "XM_047429452.1",
"protein_id": "XP_047285408.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 788,
"cds_start": 2292,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429452.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.2289C>T",
"hgvs_p": "p.Tyr763Tyr",
"transcript": "XM_047429453.1",
"protein_id": "XP_047285409.1",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 787,
"cds_start": 2289,
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{
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{
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{
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{
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],
"gene_symbol": "SOX5",
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"dbsnp": "rs144757257",
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"computational_score_selected": -0.5099999904632568,
"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": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.303,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -15,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 15,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_006940.6",
"gene_symbol": "SOX5",
"hgnc_id": 11201,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}