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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: 7-70790836-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=70790836&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 70790836,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000342771.10",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.3620T>C",
"hgvs_p": "p.Leu1207Pro",
"transcript": "NM_015570.4",
"protein_id": "NP_056385.1",
"transcript_support_level": null,
"aa_start": 1207,
"aa_end": null,
"aa_length": 1259,
"cds_start": 3620,
"cds_end": null,
"cds_length": 3780,
"cdna_start": 4799,
"cdna_end": null,
"cdna_length": 7469,
"mane_select": "ENST00000342771.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.3620T>C",
"hgvs_p": "p.Leu1207Pro",
"transcript": "ENST00000342771.10",
"protein_id": "ENSP00000344087.4",
"transcript_support_level": 1,
"aa_start": 1207,
"aa_end": null,
"aa_length": 1259,
"cds_start": 3620,
"cds_end": null,
"cds_length": 3780,
"cdna_start": 4799,
"cdna_end": null,
"cdna_length": 7469,
"mane_select": "NM_015570.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.3548T>C",
"hgvs_p": "p.Leu1183Pro",
"transcript": "ENST00000406775.6",
"protein_id": "ENSP00000385263.2",
"transcript_support_level": 1,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3548,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 4283,
"cdna_end": null,
"cdna_length": 5950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.3617T>C",
"hgvs_p": "p.Leu1206Pro",
"transcript": "ENST00000644939.1",
"protein_id": "ENSP00000496726.1",
"transcript_support_level": null,
"aa_start": 1206,
"aa_end": null,
"aa_length": 1258,
"cds_start": 3617,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 4975,
"cdna_end": null,
"cdna_length": 7006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.3548T>C",
"hgvs_p": "p.Leu1183Pro",
"transcript": "NM_001127231.3",
"protein_id": "NP_001120703.1",
"transcript_support_level": null,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3548,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 4727,
"cdna_end": null,
"cdna_length": 7397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.2876T>C",
"hgvs_p": "p.Leu959Pro",
"transcript": "ENST00000611706.4",
"protein_id": "ENSP00000478134.1",
"transcript_support_level": 5,
"aa_start": 959,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2876,
"cds_end": null,
"cds_length": 3036,
"cdna_start": 2932,
"cdna_end": null,
"cdna_length": 4583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.2804T>C",
"hgvs_p": "p.Leu935Pro",
"transcript": "ENST00000615871.4",
"protein_id": "ENSP00000479325.1",
"transcript_support_level": 5,
"aa_start": 935,
"aa_end": null,
"aa_length": 987,
"cds_start": 2804,
"cds_end": null,
"cds_length": 2964,
"cdna_start": 2860,
"cdna_end": null,
"cdna_length": 4511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.2483T>C",
"hgvs_p": "p.Leu828Pro",
"transcript": "ENST00000647140.1",
"protein_id": "ENSP00000494226.1",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 880,
"cds_start": 2483,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 2485,
"cdna_end": null,
"cdna_length": 3006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.2246T>C",
"hgvs_p": "p.Leu749Pro",
"transcript": "ENST00000644506.1",
"protein_id": "ENSP00000496672.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 801,
"cds_start": 2246,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 3642,
"cdna_end": null,
"cdna_length": 5291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.2201T>C",
"hgvs_p": "p.Leu734Pro",
"transcript": "ENST00000644359.1",
"protein_id": "ENSP00000494561.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 786,
"cds_start": 2201,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 3870,
"cdna_end": null,
"cdna_length": 4160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.3641T>C",
"hgvs_p": "p.Leu1214Pro",
"transcript": "XM_011516010.3",
"protein_id": "XP_011514312.1",
"transcript_support_level": null,
"aa_start": 1214,
"aa_end": null,
"aa_length": 1266,
"cds_start": 3641,
"cds_end": null,
"cds_length": 3801,
"cdna_start": 4820,
"cdna_end": null,
"cdna_length": 7490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.3638T>C",
"hgvs_p": "p.Leu1213Pro",
"transcript": "XM_011516011.3",
"protein_id": "XP_011514313.1",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1265,
"cds_start": 3638,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 4817,
"cdna_end": null,
"cdna_length": 7487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.3617T>C",
"hgvs_p": "p.Leu1206Pro",
"transcript": "XM_047420154.1",
"protein_id": "XP_047276110.1",
"transcript_support_level": null,
"aa_start": 1206,
"aa_end": null,
"aa_length": 1258,
"cds_start": 3617,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 4796,
"cdna_end": null,
"cdna_length": 7466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.3575T>C",
"hgvs_p": "p.Leu1192Pro",
"transcript": "XM_011516012.3",
"protein_id": "XP_011514314.1",
"transcript_support_level": null,
"aa_start": 1192,
"aa_end": null,
"aa_length": 1244,
"cds_start": 3575,
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"cds_length": 3735,
"cdna_start": 4754,
"cdna_end": null,
"cdna_length": 7424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.3572T>C",
"hgvs_p": "p.Leu1191Pro",
"transcript": "XM_047420155.1",
"protein_id": "XP_047276111.1",
"transcript_support_level": null,
"aa_start": 1191,
"aa_end": null,
"aa_length": 1243,
"cds_start": 3572,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 4751,
"cdna_end": null,
"cdna_length": 7421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.3569T>C",
"hgvs_p": "p.Leu1190Pro",
"transcript": "XM_011516013.3",
"protein_id": "XP_011514315.1",
"transcript_support_level": null,
"aa_start": 1190,
"aa_end": null,
"aa_length": 1242,
"cds_start": 3569,
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"cdna_start": 4748,
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"cdna_length": 7418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.3545T>C",
"hgvs_p": "p.Leu1182Pro",
"transcript": "XM_047420156.1",
"protein_id": "XP_047276112.1",
"transcript_support_level": null,
"aa_start": 1182,
"aa_end": null,
"aa_length": 1234,
"cds_start": 3545,
"cds_end": null,
"cds_length": 3705,
"cdna_start": 4724,
"cdna_end": null,
"cdna_length": 7394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.3539T>C",
"hgvs_p": "p.Leu1180Pro",
"transcript": "XM_011516014.3",
"protein_id": "XP_011514316.1",
"transcript_support_level": null,
"aa_start": 1180,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3539,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 4718,
"cdna_end": null,
"cdna_length": 7388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.3518T>C",
"hgvs_p": "p.Leu1173Pro",
"transcript": "XM_047420157.1",
"protein_id": "XP_047276113.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
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"cds_start": 3518,
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"cdna_start": 4697,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.3515T>C",
"hgvs_p": "p.Leu1172Pro",
"transcript": "XM_047420158.1",
"protein_id": "XP_047276114.1",
"transcript_support_level": null,
"aa_start": 1172,
"aa_end": null,
"aa_length": 1224,
"cds_start": 3515,
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"cdna_start": 4694,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.3503T>C",
"hgvs_p": "p.Leu1168Pro",
"transcript": "XM_047420159.1",
"protein_id": "XP_047276115.1",
"transcript_support_level": null,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3503,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4682,
"cdna_end": null,
"cdna_length": 7352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.3500T>C",
"hgvs_p": "p.Leu1167Pro",
"transcript": "XM_047420160.1",
"protein_id": "XP_047276116.1",
"transcript_support_level": null,
"aa_start": 1167,
"aa_end": null,
"aa_length": 1219,
"cds_start": 3500,
"cds_end": null,
"cds_length": 3660,
"cdna_start": 4679,
"cdna_end": null,
"cdna_length": 7349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
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}
],
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}