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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: 3-52096600-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=52096600&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 52096600,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015426.5",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.1094A>G",
"hgvs_p": "p.His365Arg",
"transcript": "NM_015426.5",
"protein_id": "NP_056241.3",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 407,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 1936,
"mane_select": "ENST00000296484.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015426.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.1094A>G",
"hgvs_p": "p.His365Arg",
"transcript": "ENST00000296484.7",
"protein_id": "ENSP00000296484.2",
"transcript_support_level": 1,
"aa_start": 365,
"aa_end": null,
"aa_length": 407,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 1936,
"mane_select": "NM_015426.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296484.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.982-20615A>G",
"hgvs_p": null,
"transcript": "ENST00000394970.6",
"protein_id": "ENSP00000378421.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 359,
"cds_start": null,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1999,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394970.6"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.1058A>G",
"hgvs_p": "p.His353Arg",
"transcript": "ENST00000939755.1",
"protein_id": "ENSP00000609814.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 395,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 1877,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939755.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.1031A>G",
"hgvs_p": "p.His344Arg",
"transcript": "ENST00000939751.1",
"protein_id": "ENSP00000609810.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 386,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1368,
"cdna_end": null,
"cdna_length": 2130,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939751.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.995A>G",
"hgvs_p": "p.His332Arg",
"transcript": "ENST00000939749.1",
"protein_id": "ENSP00000609808.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 374,
"cds_start": 995,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1358,
"cdna_end": null,
"cdna_length": 2785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939749.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.980A>G",
"hgvs_p": "p.His327Arg",
"transcript": "NM_001161581.2",
"protein_id": "NP_001155053.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 369,
"cds_start": 980,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1216,
"cdna_end": null,
"cdna_length": 2007,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161581.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.980A>G",
"hgvs_p": "p.His327Arg",
"transcript": "ENST00000474012.1",
"protein_id": "ENSP00000418968.1",
"transcript_support_level": 2,
"aa_start": 327,
"aa_end": null,
"aa_length": 369,
"cds_start": 980,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 1760,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000474012.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.926A>G",
"hgvs_p": "p.His309Arg",
"transcript": "ENST00000939761.1",
"protein_id": "ENSP00000609820.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 351,
"cds_start": 926,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 959,
"cdna_end": null,
"cdna_length": 1720,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939761.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.518A>G",
"hgvs_p": "p.His173Arg",
"transcript": "ENST00000939762.1",
"protein_id": "ENSP00000609821.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 215,
"cds_start": 518,
"cds_end": null,
"cds_length": 648,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 1306,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939762.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.299A>G",
"hgvs_p": "p.His100Arg",
"transcript": "ENST00000939752.1",
"protein_id": "ENSP00000609811.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 142,
"cds_start": 299,
"cds_end": null,
"cds_length": 429,
"cdna_start": 368,
"cdna_end": null,
"cdna_length": 1137,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939752.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.200A>G",
"hgvs_p": "p.His67Arg",
"transcript": "ENST00000939756.1",
"protein_id": "ENSP00000609815.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 109,
"cds_start": 200,
"cds_end": null,
"cds_length": 330,
"cdna_start": 251,
"cdna_end": null,
"cdna_length": 1015,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939756.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.995A>G",
"hgvs_p": "p.His332Arg",
"transcript": "XM_011533560.2",
"protein_id": "XP_011531862.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 374,
"cds_start": 995,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 1837,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533560.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.881A>G",
"hgvs_p": "p.His294Arg",
"transcript": "XM_047447907.1",
"protein_id": "XP_047303863.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 336,
"cds_start": 881,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 1908,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447907.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.982-20615A>G",
"hgvs_p": null,
"transcript": "NM_001161580.2",
"protein_id": "NP_001155052.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 359,
"cds_start": null,
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"cds_length": 1080,
"cdna_start": null,
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"cdna_length": 1792,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161580.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.982-20615A>G",
"hgvs_p": null,
"transcript": "ENST00000939750.1",
"protein_id": "ENSP00000609809.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 359,
"cds_start": null,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1791,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939750.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.970-20615A>G",
"hgvs_p": null,
"transcript": "ENST00000939764.1",
"protein_id": "ENSP00000609823.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 355,
"cds_start": null,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1233,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939764.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.952-20615A>G",
"hgvs_p": null,
"transcript": "ENST00000939760.1",
"protein_id": "ENSP00000609819.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939760.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.874-20615A>G",
"hgvs_p": null,
"transcript": "ENST00000939765.1",
"protein_id": "ENSP00000609824.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939765.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.847-20615A>G",
"hgvs_p": null,
"transcript": "ENST00000939757.1",
"protein_id": "ENSP00000609816.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939757.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.814-20615A>G",
"hgvs_p": null,
"transcript": "ENST00000939759.1",
"protein_id": "ENSP00000609818.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 303,
"cds_start": null,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1595,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939759.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.680-20619A>G",
"hgvs_p": null,
"transcript": "ENST00000939758.1",
"protein_id": "ENSP00000609817.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 257,
"cds_start": null,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1458,
"mane_select": null,
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{
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"clinvar_submissions_summary": "US:1",
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}
],
"message": null
}