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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: 17-8228227-CTCGGATAGAAAGGCAGGACAA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=8228227&ref=CTCGGATAGAAAGGCAGGACAA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 8228227,
"ref": "CTCGGATAGAAAGGCAGGACAA",
"alt": "C",
"effect": "conservative_inframe_deletion",
"transcript": "ENST00000651323.1",
"consequences": [
{
"aa_ref": "LSCLSIR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.3586_3606delTTGTCCTGCCTTTCTATCCGA",
"hgvs_p": "p.Leu1196_Arg1202del",
"transcript": "NM_025099.6",
"protein_id": "NP_079375.3",
"transcript_support_level": null,
"aa_start": 1196,
"aa_end": null,
"aa_length": 1217,
"cds_start": 3586,
"cds_end": null,
"cds_length": 3654,
"cdna_start": 3626,
"cdna_end": null,
"cdna_length": 7039,
"mane_select": "ENST00000651323.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LSCLSIR",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.3586_3606delTTGTCCTGCCTTTCTATCCGA",
"hgvs_p": "p.Leu1196_Arg1202del",
"transcript": "ENST00000651323.1",
"protein_id": "ENSP00000498499.1",
"transcript_support_level": null,
"aa_start": 1196,
"aa_end": null,
"aa_length": 1217,
"cds_start": 3586,
"cds_end": null,
"cds_length": 3654,
"cdna_start": 3626,
"cdna_end": null,
"cdna_length": 7039,
"mane_select": "NM_025099.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LSCLSIR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.3355_3375delTTGTCCTGCCTTTCTATCCGA",
"hgvs_p": "p.Leu1119_Arg1125del",
"transcript": "NM_001411067.1",
"protein_id": "NP_001397996.1",
"transcript_support_level": null,
"aa_start": 1119,
"aa_end": null,
"aa_length": 1140,
"cds_start": 3355,
"cds_end": null,
"cds_length": 3423,
"cdna_start": 3395,
"cdna_end": null,
"cdna_length": 6808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LSCLSIR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.3355_3375delTTGTCCTGCCTTTCTATCCGA",
"hgvs_p": "p.Leu1119_Arg1125del",
"transcript": "ENST00000581729.2",
"protein_id": "ENSP00000462720.2",
"transcript_support_level": 3,
"aa_start": 1119,
"aa_end": null,
"aa_length": 1140,
"cds_start": 3355,
"cds_end": null,
"cds_length": 3423,
"cdna_start": 3397,
"cdna_end": null,
"cdna_length": 3779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LSCLSIR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.3322_3342delTTGTCCTGCCTTTCTATCCGA",
"hgvs_p": "p.Leu1108_Arg1114del",
"transcript": "ENST00000580299.2",
"protein_id": "ENSP00000462607.2",
"transcript_support_level": 5,
"aa_start": 1108,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3322,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 3364,
"cdna_end": null,
"cdna_length": 3766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LSCLSIR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.2458_2478delTTGTCCTGCCTTTCTATCCGA",
"hgvs_p": "p.Leu820_Arg826del",
"transcript": "ENST00000699849.1",
"protein_id": "ENSP00000514647.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 841,
"cds_start": 2458,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 3216,
"cdna_end": null,
"cdna_length": 4555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LSCLSIR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.3481_3501delTTGTCCTGCCTTTCTATCCGA",
"hgvs_p": "p.Leu1161_Arg1167del",
"transcript": "XM_011524010.3",
"protein_id": "XP_011522312.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1182,
"cds_start": 3481,
"cds_end": null,
"cds_length": 3549,
"cdna_start": 3521,
"cdna_end": null,
"cdna_length": 6934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LSCLSIR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.3457_3477delTTGTCCTGCCTTTCTATCCGA",
"hgvs_p": "p.Leu1153_Arg1159del",
"transcript": "XM_006721577.4",
"protein_id": "XP_006721640.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1174,
"cds_start": 3457,
"cds_end": null,
"cds_length": 3525,
"cdna_start": 3497,
"cdna_end": null,
"cdna_length": 6910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LSCLSIR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.3352_3372delTTGTCCTGCCTTTCTATCCGA",
"hgvs_p": "p.Leu1118_Arg1124del",
"transcript": "XM_047436799.1",
"protein_id": "XP_047292755.1",
"transcript_support_level": null,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1139,
"cds_start": 3352,
"cds_end": null,
"cds_length": 3420,
"cdna_start": 3392,
"cdna_end": null,
"cdna_length": 6805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LSCLSIR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.3250_3270delTTGTCCTGCCTTTCTATCCGA",
"hgvs_p": "p.Leu1084_Arg1090del",
"transcript": "XM_047436801.1",
"protein_id": "XP_047292757.1",
"transcript_support_level": null,
"aa_start": 1084,
"aa_end": null,
"aa_length": 1105,
"cds_start": 3250,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 3290,
"cdna_end": null,
"cdna_length": 6703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LSCLSIR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.3226_3246delTTGTCCTGCCTTTCTATCCGA",
"hgvs_p": "p.Leu1076_Arg1082del",
"transcript": "XM_047436802.1",
"protein_id": "XP_047292758.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1097,
"cds_start": 3226,
"cds_end": null,
"cds_length": 3294,
"cdna_start": 3266,
"cdna_end": null,
"cdna_length": 6679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LSCLSIR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.2689_2709delTTGTCCTGCCTTTCTATCCGA",
"hgvs_p": "p.Leu897_Arg903del",
"transcript": "XM_011524011.3",
"protein_id": "XP_011522313.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 918,
"cds_start": 2689,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 3052,
"cdna_end": null,
"cdna_length": 6465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LSCLSIR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.2689_2709delTTGTCCTGCCTTTCTATCCGA",
"hgvs_p": "p.Leu897_Arg903del",
"transcript": "XM_047436807.1",
"protein_id": "XP_047292763.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 918,
"cds_start": 2689,
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"cdna_start": 3048,
"cdna_end": null,
"cdna_length": 6461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "n.*320_*340delTTGTCCTGCCTTTCTATCCGA",
"hgvs_p": null,
"transcript": "ENST00000449476.7",
"protein_id": "ENSP00000396018.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 4795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "n.3575_3595delTTGTCCTGCCTTTCTATCCGA",
"hgvs_p": null,
"transcript": "ENST00000581671.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "n.*2293_*2313delTTGTCCTGCCTTTCTATCCGA",
"hgvs_p": null,
"transcript": "ENST00000643543.1",
"protein_id": "ENSP00000494323.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 4859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "n.3518_3538delTTGTCCTGCCTTTCTATCCGA",
"hgvs_p": null,
"transcript": "ENST00000699850.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 4876,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "n.4472_4492delTTGTCCTGCCTTTCTATCCGA",
"hgvs_p": null,
"transcript": "ENST00000699851.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "n.*2099_*2119delTTGTCCTGCCTTTCTATCCGA",
"hgvs_p": null,
"transcript": "ENST00000699852.1",
"protein_id": "ENSP00000514648.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "n.*171_*191delTTGTCCTGCCTTTCTATCCGA",
"hgvs_p": null,
"transcript": "ENST00000699853.1",
"protein_id": "ENSP00000514649.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "n.4145_4165delTTGTCCTGCCTTTCTATCCGA",
"hgvs_p": null,
"transcript": "ENST00000699854.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "n.4709_4729delTTGTCCTGCCTTTCTATCCGA",
"hgvs_p": null,
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}
],
"message": null
}