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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: 12-879688-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=879688&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 879688,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000315939.11",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.2489C>T",
"hgvs_p": "p.Pro830Leu",
"transcript": "NM_018979.4",
"protein_id": "NP_061852.3",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 2382,
"cds_start": 2489,
"cds_end": null,
"cds_length": 7149,
"cdna_start": 3476,
"cdna_end": null,
"cdna_length": 10796,
"mane_select": "ENST00000315939.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.2489C>T",
"hgvs_p": "p.Pro830Leu",
"transcript": "ENST00000315939.11",
"protein_id": "ENSP00000313059.6",
"transcript_support_level": 1,
"aa_start": 830,
"aa_end": null,
"aa_length": 2382,
"cds_start": 2489,
"cds_end": null,
"cds_length": 7149,
"cdna_start": 3476,
"cdna_end": null,
"cdna_length": 10796,
"mane_select": "NM_018979.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3728C>T",
"hgvs_p": "p.Pro1243Leu",
"transcript": "ENST00000530271.6",
"protein_id": "ENSP00000433548.3",
"transcript_support_level": 1,
"aa_start": 1243,
"aa_end": null,
"aa_length": 2833,
"cds_start": 3728,
"cds_end": null,
"cds_length": 8502,
"cdna_start": 4371,
"cdna_end": null,
"cdna_length": 11804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3867+1327C>T",
"hgvs_p": null,
"transcript": "NM_213655.5",
"protein_id": "NP_998820.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2634,
"cds_start": -4,
"cds_end": null,
"cds_length": 7905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11552,
"mane_select": null,
"mane_plus": "ENST00000340908.9",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3867+1327C>T",
"hgvs_p": null,
"transcript": "ENST00000340908.9",
"protein_id": "ENSP00000341292.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2634,
"cds_start": -4,
"cds_end": null,
"cds_length": 7905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11552,
"mane_select": null,
"mane_plus": "NM_213655.5",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.2370+1327C>T",
"hgvs_p": null,
"transcript": "ENST00000535572.5",
"protein_id": "ENSP00000441972.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2134,
"cds_start": -4,
"cds_end": null,
"cds_length": 6405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.1268C>T",
"hgvs_p": "p.Pro423Leu",
"transcript": "ENST00000675631.1",
"protein_id": "ENSP00000502415.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 1975,
"cds_start": 1268,
"cds_end": null,
"cds_length": 5928,
"cdna_start": 1537,
"cdna_end": null,
"cdna_length": 8857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Pro100Leu",
"transcript": "ENST00000535698.1",
"protein_id": "ENSP00000439552.1",
"transcript_support_level": 3,
"aa_start": 100,
"aa_end": null,
"aa_length": 244,
"cds_start": 299,
"cds_end": null,
"cds_length": 736,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3728C>T",
"hgvs_p": "p.Pro1243Leu",
"transcript": "XM_011520997.4",
"protein_id": "XP_011519299.1",
"transcript_support_level": null,
"aa_start": 1243,
"aa_end": null,
"aa_length": 2795,
"cds_start": 3728,
"cds_end": null,
"cds_length": 8388,
"cdna_start": 4715,
"cdna_end": null,
"cdna_length": 12035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3725C>T",
"hgvs_p": "p.Pro1242Leu",
"transcript": "XM_011520998.3",
"protein_id": "XP_011519300.1",
"transcript_support_level": null,
"aa_start": 1242,
"aa_end": null,
"aa_length": 2794,
"cds_start": 3725,
"cds_end": null,
"cds_length": 8385,
"cdna_start": 4712,
"cdna_end": null,
"cdna_length": 12032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3728C>T",
"hgvs_p": "p.Pro1243Leu",
"transcript": "XM_011520999.3",
"protein_id": "XP_011519301.1",
"transcript_support_level": null,
"aa_start": 1243,
"aa_end": null,
"aa_length": 2794,
"cds_start": 3728,
"cds_end": null,
"cds_length": 8385,
"cdna_start": 4715,
"cdna_end": null,
"cdna_length": 12032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3728C>T",
"hgvs_p": "p.Pro1243Leu",
"transcript": "XM_011521000.3",
"protein_id": "XP_011519302.1",
"transcript_support_level": null,
"aa_start": 1243,
"aa_end": null,
"aa_length": 2730,
"cds_start": 3728,
"cds_end": null,
"cds_length": 8193,
"cdna_start": 4715,
"cdna_end": null,
"cdna_length": 11840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3728C>T",
"hgvs_p": "p.Pro1243Leu",
"transcript": "XM_047429374.1",
"protein_id": "XP_047285330.1",
"transcript_support_level": null,
"aa_start": 1243,
"aa_end": null,
"aa_length": 2729,
"cds_start": 3728,
"cds_end": null,
"cds_length": 8190,
"cdna_start": 4715,
"cdna_end": null,
"cdna_length": 11837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3728C>T",
"hgvs_p": "p.Pro1243Leu",
"transcript": "XM_011521001.3",
"protein_id": "XP_011519303.1",
"transcript_support_level": null,
"aa_start": 1243,
"aa_end": null,
"aa_length": 2702,
"cds_start": 3728,
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"cdna_start": 4715,
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"cdna_length": 11756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3728C>T",
"hgvs_p": "p.Pro1243Leu",
"transcript": "XM_047429375.1",
"protein_id": "XP_047285331.1",
"transcript_support_level": null,
"aa_start": 1243,
"aa_end": null,
"aa_length": 2701,
"cds_start": 3728,
"cds_end": null,
"cds_length": 8106,
"cdna_start": 4715,
"cdna_end": null,
"cdna_length": 11753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.2486C>T",
"hgvs_p": "p.Pro829Leu",
"transcript": "XM_006719003.3",
"protein_id": "XP_006719066.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 2381,
"cds_start": 2486,
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"cdna_start": 3473,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.2489C>T",
"hgvs_p": "p.Pro830Leu",
"transcript": "XM_047429377.1",
"protein_id": "XP_047285333.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 2381,
"cds_start": 2489,
"cds_end": null,
"cds_length": 7146,
"cdna_start": 3476,
"cdna_end": null,
"cdna_length": 10793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.2486C>T",
"hgvs_p": "p.Pro829Leu",
"transcript": "XM_047429378.1",
"protein_id": "XP_047285334.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 2380,
"cds_start": 2486,
"cds_end": null,
"cds_length": 7143,
"cdna_start": 3473,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.2405C>T",
"hgvs_p": "p.Pro802Leu",
"transcript": "XM_011521006.3",
"protein_id": "XP_011519308.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
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"cdna_start": 3392,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.2402C>T",
"hgvs_p": "p.Pro801Leu",
"transcript": "XM_011521007.3",
"protein_id": "XP_011519309.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 2353,
"cds_start": 2402,
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"cdna_start": 3389,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.2405C>T",
"hgvs_p": "p.Pro802Leu",
"transcript": "XM_047429379.1",
"protein_id": "XP_047285335.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 2353,
"cds_start": 2405,
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"cdna_start": 3392,
"cdna_end": null,
"cdna_length": 10709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.2489C>T",
"hgvs_p": "p.Pro830Leu",
"transcript": "XM_047429380.1",
"protein_id": "XP_047285336.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 2289,
"cds_start": 2489,
"cds_end": null,
"cds_length": 6870,
"cdna_start": 3476,
"cdna_end": null,
"cdna_length": 10517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
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