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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: 7-70771588-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=70771588&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 70771588,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000342771.10",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.1774C>A",
"hgvs_p": "p.Pro592Thr",
"transcript": "NM_015570.4",
"protein_id": "NP_056385.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 1259,
"cds_start": 1774,
"cds_end": null,
"cds_length": 3780,
"cdna_start": 2953,
"cdna_end": null,
"cdna_length": 7469,
"mane_select": "ENST00000342771.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.1774C>A",
"hgvs_p": "p.Pro592Thr",
"transcript": "ENST00000342771.10",
"protein_id": "ENSP00000344087.4",
"transcript_support_level": 1,
"aa_start": 592,
"aa_end": null,
"aa_length": 1259,
"cds_start": 1774,
"cds_end": null,
"cds_length": 3780,
"cdna_start": 2953,
"cdna_end": null,
"cdna_length": 7469,
"mane_select": "NM_015570.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.1774C>A",
"hgvs_p": "p.Pro592Thr",
"transcript": "ENST00000406775.6",
"protein_id": "ENSP00000385263.2",
"transcript_support_level": 1,
"aa_start": 592,
"aa_end": null,
"aa_length": 1235,
"cds_start": 1774,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 2509,
"cdna_end": null,
"cdna_length": 5950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.1771C>A",
"hgvs_p": "p.Pro591Thr",
"transcript": "ENST00000644939.1",
"protein_id": "ENSP00000496726.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 1258,
"cds_start": 1771,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 3129,
"cdna_end": null,
"cdna_length": 7006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.1774C>A",
"hgvs_p": "p.Pro592Thr",
"transcript": "NM_001127231.3",
"protein_id": "NP_001120703.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 1235,
"cds_start": 1774,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 2953,
"cdna_end": null,
"cdna_length": 7397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.1030C>A",
"hgvs_p": "p.Pro344Thr",
"transcript": "ENST00000611706.4",
"protein_id": "ENSP00000478134.1",
"transcript_support_level": 5,
"aa_start": 344,
"aa_end": null,
"aa_length": 1011,
"cds_start": 1030,
"cds_end": null,
"cds_length": 3036,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 4583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.1030C>A",
"hgvs_p": "p.Pro344Thr",
"transcript": "ENST00000615871.4",
"protein_id": "ENSP00000479325.1",
"transcript_support_level": 5,
"aa_start": 344,
"aa_end": null,
"aa_length": 987,
"cds_start": 1030,
"cds_end": null,
"cds_length": 2964,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 4511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.637C>A",
"hgvs_p": "p.Pro213Thr",
"transcript": "ENST00000647140.1",
"protein_id": "ENSP00000494226.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 880,
"cds_start": 637,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 3006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.400C>A",
"hgvs_p": "p.Pro134Thr",
"transcript": "ENST00000644506.1",
"protein_id": "ENSP00000496672.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 801,
"cds_start": 400,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 1796,
"cdna_end": null,
"cdna_length": 5291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.355C>A",
"hgvs_p": "p.Pro119Thr",
"transcript": "ENST00000644359.1",
"protein_id": "ENSP00000494561.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 786,
"cds_start": 355,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 2024,
"cdna_end": null,
"cdna_length": 4160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.400C>A",
"hgvs_p": "p.Pro134Thr",
"transcript": "ENST00000656200.1",
"protein_id": "ENSP00000499508.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 151,
"cds_start": 400,
"cds_end": null,
"cds_length": 456,
"cdna_start": 1159,
"cdna_end": null,
"cdna_length": 1215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.109C>A",
"hgvs_p": "p.Pro37Thr",
"transcript": "ENST00000443672.2",
"protein_id": "ENSP00000393548.2",
"transcript_support_level": 4,
"aa_start": 37,
"aa_end": null,
"aa_length": 146,
"cds_start": 109,
"cds_end": null,
"cds_length": 443,
"cdna_start": 617,
"cdna_end": null,
"cdna_length": 951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.205C>A",
"hgvs_p": "p.Pro69Thr",
"transcript": "ENST00000644949.1",
"protein_id": "ENSP00000495704.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 97,
"cds_start": 205,
"cds_end": null,
"cds_length": 294,
"cdna_start": 207,
"cdna_end": null,
"cdna_length": 296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.1795C>A",
"hgvs_p": "p.Pro599Thr",
"transcript": "XM_011516010.3",
"protein_id": "XP_011514312.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 1266,
"cds_start": 1795,
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"cds_length": 3801,
"cdna_start": 2974,
"cdna_end": null,
"cdna_length": 7490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.1792C>A",
"hgvs_p": "p.Pro598Thr",
"transcript": "XM_011516011.3",
"protein_id": "XP_011514313.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 1265,
"cds_start": 1792,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 2971,
"cdna_end": null,
"cdna_length": 7487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.1771C>A",
"hgvs_p": "p.Pro591Thr",
"transcript": "XM_047420154.1",
"protein_id": "XP_047276110.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 1258,
"cds_start": 1771,
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"cdna_start": 2950,
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"cdna_length": 7466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.1729C>A",
"hgvs_p": "p.Pro577Thr",
"transcript": "XM_011516012.3",
"protein_id": "XP_011514314.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 1244,
"cds_start": 1729,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 2908,
"cdna_end": null,
"cdna_length": 7424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.1726C>A",
"hgvs_p": "p.Pro576Thr",
"transcript": "XM_047420155.1",
"protein_id": "XP_047276111.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 1243,
"cds_start": 1726,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 2905,
"cdna_end": null,
"cdna_length": 7421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.1795C>A",
"hgvs_p": "p.Pro599Thr",
"transcript": "XM_011516013.3",
"protein_id": "XP_011514315.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 1242,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.1771C>A",
"hgvs_p": "p.Pro591Thr",
"transcript": "XM_047420156.1",
"protein_id": "XP_047276112.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 1234,
"cds_start": 1771,
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"cdna_start": 2950,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.1795C>A",
"hgvs_p": "p.Pro599Thr",
"transcript": "XM_011516014.3",
"protein_id": "XP_011514316.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 1232,
"cds_start": 1795,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 2974,
"cdna_end": null,
"cdna_length": 7388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.1774C>A",
"hgvs_p": "p.Pro592Thr",
"transcript": "XM_047420157.1",
"protein_id": "XP_047276113.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 1225,
"cds_start": 1774,
"cds_end": null,
"cds_length": 3678,
"cdna_start": 2953,
"cdna_end": null,
"cdna_length": 7367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
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}