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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: X-41553739-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=41553739&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 41553739,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000378163.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.2019T>C",
"hgvs_p": "p.Pro673Pro",
"transcript": "NM_001367721.1",
"protein_id": "NP_001354650.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 926,
"cds_start": 2019,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 2585,
"cdna_end": null,
"cdna_length": 8833,
"mane_select": "ENST00000378163.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.2019T>C",
"hgvs_p": "p.Pro673Pro",
"transcript": "ENST00000378163.7",
"protein_id": "ENSP00000367405.1",
"transcript_support_level": 5,
"aa_start": 673,
"aa_end": null,
"aa_length": 926,
"cds_start": 2019,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 2585,
"cdna_end": null,
"cdna_length": 8833,
"mane_select": "NM_001367721.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.1950T>C",
"hgvs_p": "p.Pro650Pro",
"transcript": "ENST00000421587.8",
"protein_id": "ENSP00000400526.4",
"transcript_support_level": 1,
"aa_start": 650,
"aa_end": null,
"aa_length": 903,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 1972,
"cdna_end": null,
"cdna_length": 8220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.1932T>C",
"hgvs_p": "p.Pro644Pro",
"transcript": "ENST00000378166.9",
"protein_id": "ENSP00000367408.5",
"transcript_support_level": 1,
"aa_start": 644,
"aa_end": null,
"aa_length": 892,
"cds_start": 1932,
"cds_end": null,
"cds_length": 2679,
"cdna_start": 1974,
"cdna_end": null,
"cdna_length": 3244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.1896T>C",
"hgvs_p": "p.Pro632Pro",
"transcript": "ENST00000442742.7",
"protein_id": "ENSP00000398007.3",
"transcript_support_level": 1,
"aa_start": 632,
"aa_end": null,
"aa_length": 880,
"cds_start": 1896,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 2069,
"cdna_end": null,
"cdna_length": 3758,
"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": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "n.1285T>C",
"hgvs_p": null,
"transcript": "ENST00000378179.9",
"protein_id": null,
"transcript_support_level": 1,
"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": 3240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.2001T>C",
"hgvs_p": "p.Pro667Pro",
"transcript": "ENST00000645986.2",
"protein_id": "ENSP00000494409.2",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 955,
"cds_start": 2001,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 2530,
"cdna_end": null,
"cdna_length": 4550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.2037T>C",
"hgvs_p": "p.Pro679Pro",
"transcript": "ENST00000378168.8",
"protein_id": "ENSP00000367410.4",
"transcript_support_level": 5,
"aa_start": 679,
"aa_end": null,
"aa_length": 927,
"cds_start": 2037,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 2566,
"cdna_end": null,
"cdna_length": 8799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.2019T>C",
"hgvs_p": "p.Pro673Pro",
"transcript": "NM_003688.4",
"protein_id": "NP_003679.2",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 921,
"cds_start": 2019,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2585,
"cdna_end": null,
"cdna_length": 8818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.2019T>C",
"hgvs_p": "p.Pro673Pro",
"transcript": "ENST00000645566.1",
"protein_id": "ENSP00000494788.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 921,
"cds_start": 2019,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2046,
"cdna_end": null,
"cdna_length": 4002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.2001T>C",
"hgvs_p": "p.Pro667Pro",
"transcript": "NM_001410745.1",
"protein_id": "NP_001397674.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 920,
"cds_start": 2001,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 2567,
"cdna_end": null,
"cdna_length": 8815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.2001T>C",
"hgvs_p": "p.Pro667Pro",
"transcript": "ENST00000644219.1",
"protein_id": "ENSP00000495357.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 920,
"cds_start": 2001,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 2174,
"cdna_end": null,
"cdna_length": 6048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.1983T>C",
"hgvs_p": "p.Pro661Pro",
"transcript": "ENST00000378154.3",
"protein_id": "ENSP00000367396.2",
"transcript_support_level": 5,
"aa_start": 661,
"aa_end": null,
"aa_length": 909,
"cds_start": 1983,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 2424,
"cdna_end": null,
"cdna_length": 4037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.1965T>C",
"hgvs_p": "p.Pro655Pro",
"transcript": "ENST00000378158.6",
"protein_id": "ENSP00000367400.2",
"transcript_support_level": 5,
"aa_start": 655,
"aa_end": null,
"aa_length": 908,
"cds_start": 1965,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 2121,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.1968T>C",
"hgvs_p": "p.Pro656Pro",
"transcript": "ENST00000675354.1",
"protein_id": "ENSP00000502315.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 904,
"cds_start": 1968,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 2497,
"cdna_end": null,
"cdna_length": 8730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.1950T>C",
"hgvs_p": "p.Pro650Pro",
"transcript": "NM_001126054.3",
"protein_id": "NP_001119526.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 898,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 2516,
"cdna_end": null,
"cdna_length": 8749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.1950T>C",
"hgvs_p": "p.Pro650Pro",
"transcript": "ENST00000646120.2",
"protein_id": "ENSP00000495291.2",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 898,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 1969,
"cdna_end": null,
"cdna_length": 3239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.1932T>C",
"hgvs_p": "p.Pro644Pro",
"transcript": "NM_001126055.3",
"protein_id": "NP_001119527.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 897,
"cds_start": 1932,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 2498,
"cdna_end": null,
"cdna_length": 8746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.1932T>C",
"hgvs_p": "p.Pro644Pro",
"transcript": "ENST00000644347.1",
"protein_id": "ENSP00000494183.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 897,
"cds_start": 1932,
"cds_end": null,
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"cdna_start": 2113,
"cdna_end": null,
"cdna_length": 8361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.1341T>C",
"hgvs_p": "p.Pro447Pro",
"transcript": "ENST00000646087.2",
"protein_id": "ENSP00000495510.2",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 700,
"cds_start": 1341,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 3392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.2019T>C",
"hgvs_p": "p.Pro673Pro",
"transcript": "XM_011543993.3",
"protein_id": "XP_011542295.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 926,
"cds_start": 2019,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 2065,
"cdna_end": null,
"cdna_length": 8313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.1983T>C",
"hgvs_p": "p.Pro661Pro",
"transcript": "XM_011543994.3",
"protein_id": "XP_011542296.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 914,
"cds_start": 1983,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 2029,
"cdna_end": null,
"cdna_length": 8277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASK",
"gene_hgnc_id": 1497,
"hgvs_c": "c.1965T>C",
"hgvs_p": "p.Pro655Pro",
"transcript": "XM_047442601.1",
"protein_id": "XP_047298557.1",
"transcript_support_level": null,
"aa_start": 655,
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}
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}