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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: 7-70790590-G-GCCACCACCA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=70790590&ref=G&alt=GCCACCACCA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 70790590,
"ref": "G",
"alt": "GCCACCACCA",
"effect": "disruptive_inframe_insertion",
"transcript": "ENST00000342771.10",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "HHHP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3392_3400dupACCACCACC",
"hgvs_p": "p.His1131_His1133dup",
"transcript": "NM_015570.4",
"protein_id": "NP_056385.1",
"transcript_support_level": null,
"aa_start": 1134,
"aa_end": null,
"aa_length": 1259,
"cds_start": 3401,
"cds_end": null,
"cds_length": 3780,
"cdna_start": 4580,
"cdna_end": null,
"cdna_length": 7469,
"mane_select": "ENST00000342771.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "HHHP",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3392_3400dupACCACCACC",
"hgvs_p": "p.His1131_His1133dup",
"transcript": "ENST00000342771.10",
"protein_id": "ENSP00000344087.4",
"transcript_support_level": 1,
"aa_start": 1134,
"aa_end": null,
"aa_length": 1259,
"cds_start": 3401,
"cds_end": null,
"cds_length": 3780,
"cdna_start": 4580,
"cdna_end": null,
"cdna_length": 7469,
"mane_select": "NM_015570.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "HHHP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3320_3328dupACCACCACC",
"hgvs_p": "p.His1107_His1109dup",
"transcript": "ENST00000406775.6",
"protein_id": "ENSP00000385263.2",
"transcript_support_level": 1,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3329,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 4064,
"cdna_end": null,
"cdna_length": 5950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "HHHP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3389_3397dupACCACCACC",
"hgvs_p": "p.His1130_His1132dup",
"transcript": "ENST00000644939.1",
"protein_id": "ENSP00000496726.1",
"transcript_support_level": null,
"aa_start": 1133,
"aa_end": null,
"aa_length": 1258,
"cds_start": 3398,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 4756,
"cdna_end": null,
"cdna_length": 7006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "HHHP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3320_3328dupACCACCACC",
"hgvs_p": "p.His1107_His1109dup",
"transcript": "NM_001127231.3",
"protein_id": "NP_001120703.1",
"transcript_support_level": null,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3329,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 4508,
"cdna_end": null,
"cdna_length": 7397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "HHHP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.2648_2656dupACCACCACC",
"hgvs_p": "p.His883_His885dup",
"transcript": "ENST00000611706.4",
"protein_id": "ENSP00000478134.1",
"transcript_support_level": 5,
"aa_start": 886,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2657,
"cds_end": null,
"cds_length": 3036,
"cdna_start": 2713,
"cdna_end": null,
"cdna_length": 4583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "HHHP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.2576_2584dupACCACCACC",
"hgvs_p": "p.His859_His861dup",
"transcript": "ENST00000615871.4",
"protein_id": "ENSP00000479325.1",
"transcript_support_level": 5,
"aa_start": 862,
"aa_end": null,
"aa_length": 987,
"cds_start": 2585,
"cds_end": null,
"cds_length": 2964,
"cdna_start": 2641,
"cdna_end": null,
"cdna_length": 4511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "HHHP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.2255_2263dupACCACCACC",
"hgvs_p": "p.His752_His754dup",
"transcript": "ENST00000647140.1",
"protein_id": "ENSP00000494226.1",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 880,
"cds_start": 2264,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 2266,
"cdna_end": null,
"cdna_length": 3006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "HHHP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.2018_2026dupACCACCACC",
"hgvs_p": "p.His673_His675dup",
"transcript": "ENST00000644506.1",
"protein_id": "ENSP00000496672.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 801,
"cds_start": 2027,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 3423,
"cdna_end": null,
"cdna_length": 5291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "HHHP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.1973_1981dupACCACCACC",
"hgvs_p": "p.His658_His660dup",
"transcript": "ENST00000644359.1",
"protein_id": "ENSP00000494561.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 786,
"cds_start": 1982,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 3651,
"cdna_end": null,
"cdna_length": 4160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "HHHP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3413_3421dupACCACCACC",
"hgvs_p": "p.His1138_His1140dup",
"transcript": "XM_011516010.3",
"protein_id": "XP_011514312.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1266,
"cds_start": 3422,
"cds_end": null,
"cds_length": 3801,
"cdna_start": 4601,
"cdna_end": null,
"cdna_length": 7490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "HHHP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3410_3418dupACCACCACC",
"hgvs_p": "p.His1137_His1139dup",
"transcript": "XM_011516011.3",
"protein_id": "XP_011514313.1",
"transcript_support_level": null,
"aa_start": 1140,
"aa_end": null,
"aa_length": 1265,
"cds_start": 3419,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 4598,
"cdna_end": null,
"cdna_length": 7487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "HHHP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3389_3397dupACCACCACC",
"hgvs_p": "p.His1130_His1132dup",
"transcript": "XM_047420154.1",
"protein_id": "XP_047276110.1",
"transcript_support_level": null,
"aa_start": 1133,
"aa_end": null,
"aa_length": 1258,
"cds_start": 3398,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 4577,
"cdna_end": null,
"cdna_length": 7466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "HHHP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3347_3355dupACCACCACC",
"hgvs_p": "p.His1116_His1118dup",
"transcript": "XM_011516012.3",
"protein_id": "XP_011514314.1",
"transcript_support_level": null,
"aa_start": 1119,
"aa_end": null,
"aa_length": 1244,
"cds_start": 3356,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 4535,
"cdna_end": null,
"cdna_length": 7424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "HHHP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3344_3352dupACCACCACC",
"hgvs_p": "p.His1115_His1117dup",
"transcript": "XM_047420155.1",
"protein_id": "XP_047276111.1",
"transcript_support_level": null,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1243,
"cds_start": 3353,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 4532,
"cdna_end": null,
"cdna_length": 7421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3341_3349dupACCACCACC",
"hgvs_p": "p.His1114_His1116dup",
"transcript": "XM_011516013.3",
"protein_id": "XP_011514315.1",
"transcript_support_level": null,
"aa_start": 1117,
"aa_end": null,
"aa_length": 1242,
"cds_start": 3350,
"cds_end": null,
"cds_length": 3729,
"cdna_start": 4529,
"cdna_end": null,
"cdna_length": 7418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "HHHP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3317_3325dupACCACCACC",
"hgvs_p": "p.His1106_His1108dup",
"transcript": "XM_047420156.1",
"protein_id": "XP_047276112.1",
"transcript_support_level": null,
"aa_start": 1109,
"aa_end": null,
"aa_length": 1234,
"cds_start": 3326,
"cds_end": null,
"cds_length": 3705,
"cdna_start": 4505,
"cdna_end": null,
"cdna_length": 7394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "HHHP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3311_3319dupACCACCACC",
"hgvs_p": "p.His1104_His1106dup",
"transcript": "XM_011516014.3",
"protein_id": "XP_011514316.1",
"transcript_support_level": null,
"aa_start": 1107,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3320,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 4499,
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"cdna_length": 7388,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "HHHP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3290_3298dupACCACCACC",
"hgvs_p": "p.His1097_His1099dup",
"transcript": "XM_047420157.1",
"protein_id": "XP_047276113.1",
"transcript_support_level": null,
"aa_start": 1100,
"aa_end": null,
"aa_length": 1225,
"cds_start": 3299,
"cds_end": null,
"cds_length": 3678,
"cdna_start": 4478,
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"cdna_length": 7367,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "HHHP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3287_3295dupACCACCACC",
"hgvs_p": "p.His1096_His1098dup",
"transcript": "XM_047420158.1",
"protein_id": "XP_047276114.1",
"transcript_support_level": null,
"aa_start": 1099,
"aa_end": null,
"aa_length": 1224,
"cds_start": 3296,
"cds_end": null,
"cds_length": 3675,
"cdna_start": 4475,
"cdna_end": null,
"cdna_length": 7364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "HHHP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3275_3283dupACCACCACC",
"hgvs_p": "p.His1092_His1094dup",
"transcript": "XM_047420159.1",
"protein_id": "XP_047276115.1",
"transcript_support_level": null,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3284,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4463,
"cdna_end": null,
"cdna_length": 7352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "HHHP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
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{
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}