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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: 12-896356-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=896356&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 896356,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000315939.11",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6625C>T",
"hgvs_p": "p.Arg2209Cys",
"transcript": "NM_213655.5",
"protein_id": "NP_998820.3",
"transcript_support_level": null,
"aa_start": 2209,
"aa_end": null,
"aa_length": 2634,
"cds_start": 6625,
"cds_end": null,
"cds_length": 7905,
"cdna_start": 7612,
"cdna_end": null,
"cdna_length": 11552,
"mane_select": null,
"mane_plus": "ENST00000340908.9",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6625C>T",
"hgvs_p": "p.Arg2209Cys",
"transcript": "ENST00000340908.9",
"protein_id": "ENSP00000341292.5",
"transcript_support_level": 5,
"aa_start": 2209,
"aa_end": null,
"aa_length": 2634,
"cds_start": 6625,
"cds_end": null,
"cds_length": 7905,
"cdna_start": 7612,
"cdna_end": null,
"cdna_length": 11552,
"mane_select": null,
"mane_plus": "NM_213655.5",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5869C>T",
"hgvs_p": "p.Arg1957Cys",
"transcript": "NM_018979.4",
"protein_id": "NP_061852.3",
"transcript_support_level": null,
"aa_start": 1957,
"aa_end": null,
"aa_length": 2382,
"cds_start": 5869,
"cds_end": null,
"cds_length": 7149,
"cdna_start": 6856,
"cdna_end": null,
"cdna_length": 10796,
"mane_select": "ENST00000315939.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5869C>T",
"hgvs_p": "p.Arg1957Cys",
"transcript": "ENST00000315939.11",
"protein_id": "ENSP00000313059.6",
"transcript_support_level": 1,
"aa_start": 1957,
"aa_end": null,
"aa_length": 2382,
"cds_start": 5869,
"cds_end": null,
"cds_length": 7149,
"cdna_start": 6856,
"cdna_end": null,
"cdna_length": 10796,
"mane_select": "NM_018979.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.7108C>T",
"hgvs_p": "p.Arg2370Cys",
"transcript": "ENST00000530271.6",
"protein_id": "ENSP00000433548.3",
"transcript_support_level": 1,
"aa_start": 2370,
"aa_end": null,
"aa_length": 2833,
"cds_start": 7108,
"cds_end": null,
"cds_length": 8502,
"cdna_start": 7751,
"cdna_end": null,
"cdna_length": 11804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5125C>T",
"hgvs_p": "p.Arg1709Cys",
"transcript": "ENST00000535572.5",
"protein_id": "ENSP00000441972.1",
"transcript_support_level": 1,
"aa_start": 1709,
"aa_end": null,
"aa_length": 2134,
"cds_start": 5125,
"cds_end": null,
"cds_length": 6405,
"cdna_start": 6098,
"cdna_end": null,
"cdna_length": 9886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6649C>T",
"hgvs_p": "p.Arg2217Cys",
"transcript": "NM_001184985.2",
"protein_id": "NP_001171914.1",
"transcript_support_level": null,
"aa_start": 2217,
"aa_end": null,
"aa_length": 2642,
"cds_start": 6649,
"cds_end": null,
"cds_length": 7929,
"cdna_start": 7636,
"cdna_end": null,
"cdna_length": 11576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6649C>T",
"hgvs_p": "p.Arg2217Cys",
"transcript": "ENST00000537687.5",
"protein_id": "ENSP00000444465.1",
"transcript_support_level": 5,
"aa_start": 2217,
"aa_end": null,
"aa_length": 2642,
"cds_start": 6649,
"cds_end": null,
"cds_length": 7929,
"cdna_start": 7292,
"cdna_end": null,
"cdna_length": 11232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5125C>T",
"hgvs_p": "p.Arg1709Cys",
"transcript": "NM_014823.3",
"protein_id": "NP_055638.2",
"transcript_support_level": null,
"aa_start": 1709,
"aa_end": null,
"aa_length": 2134,
"cds_start": 5125,
"cds_end": null,
"cds_length": 6405,
"cdna_start": 6112,
"cdna_end": null,
"cdna_length": 10052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4648C>T",
"hgvs_p": "p.Arg1550Cys",
"transcript": "ENST00000675631.1",
"protein_id": "ENSP00000502415.1",
"transcript_support_level": null,
"aa_start": 1550,
"aa_end": null,
"aa_length": 1975,
"cds_start": 4648,
"cds_end": null,
"cds_length": 5928,
"cdna_start": 4917,
"cdna_end": null,
"cdna_length": 8857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3316C>T",
"hgvs_p": "p.Arg1106Cys",
"transcript": "ENST00000676347.1",
"protein_id": "ENSP00000501875.1",
"transcript_support_level": null,
"aa_start": 1106,
"aa_end": null,
"aa_length": 1531,
"cds_start": 3316,
"cds_end": null,
"cds_length": 4596,
"cdna_start": 3316,
"cdna_end": null,
"cdna_length": 4596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.7108C>T",
"hgvs_p": "p.Arg2370Cys",
"transcript": "XM_011520997.4",
"protein_id": "XP_011519299.1",
"transcript_support_level": null,
"aa_start": 2370,
"aa_end": null,
"aa_length": 2795,
"cds_start": 7108,
"cds_end": null,
"cds_length": 8388,
"cdna_start": 8095,
"cdna_end": null,
"cdna_length": 12035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.7105C>T",
"hgvs_p": "p.Arg2369Cys",
"transcript": "XM_011520998.3",
"protein_id": "XP_011519300.1",
"transcript_support_level": null,
"aa_start": 2369,
"aa_end": null,
"aa_length": 2794,
"cds_start": 7105,
"cds_end": null,
"cds_length": 8385,
"cdna_start": 8092,
"cdna_end": null,
"cdna_length": 12032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.7105C>T",
"hgvs_p": "p.Arg2369Cys",
"transcript": "XM_011520999.3",
"protein_id": "XP_011519301.1",
"transcript_support_level": null,
"aa_start": 2369,
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"cds_start": 7105,
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"cdna_start": 8092,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.7108C>T",
"hgvs_p": "p.Arg2370Cys",
"transcript": "XM_011521000.3",
"protein_id": "XP_011519302.1",
"transcript_support_level": null,
"aa_start": 2370,
"aa_end": null,
"aa_length": 2730,
"cds_start": 7108,
"cds_end": null,
"cds_length": 8193,
"cdna_start": 8095,
"cdna_end": null,
"cdna_length": 11840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.7105C>T",
"hgvs_p": "p.Arg2369Cys",
"transcript": "XM_047429374.1",
"protein_id": "XP_047285330.1",
"transcript_support_level": null,
"aa_start": 2369,
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"cdna_start": 8092,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6829C>T",
"hgvs_p": "p.Arg2277Cys",
"transcript": "XM_011521001.3",
"protein_id": "XP_011519303.1",
"transcript_support_level": null,
"aa_start": 2277,
"aa_end": null,
"aa_length": 2702,
"cds_start": 6829,
"cds_end": null,
"cds_length": 8109,
"cdna_start": 7816,
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"cdna_length": 11756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6826C>T",
"hgvs_p": "p.Arg2276Cys",
"transcript": "XM_047429375.1",
"protein_id": "XP_047285331.1",
"transcript_support_level": null,
"aa_start": 2276,
"aa_end": null,
"aa_length": 2701,
"cds_start": 6826,
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"cdna_start": 7813,
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"feature": null
},
{
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"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6646C>T",
"hgvs_p": "p.Arg2216Cys",
"transcript": "XM_011521002.3",
"protein_id": "XP_011519304.1",
"transcript_support_level": null,
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"feature": null
},
{
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"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6646C>T",
"hgvs_p": "p.Arg2216Cys",
"transcript": "XM_047429376.1",
"protein_id": "XP_047285332.1",
"transcript_support_level": null,
"aa_start": 2216,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 23,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6370C>T",
"hgvs_p": "p.Arg2124Cys",
"transcript": "XM_011521003.3",
"protein_id": "XP_011519305.1",
"transcript_support_level": null,
"aa_start": 2124,
"aa_end": null,
"aa_length": 2549,
"cds_start": 6370,
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"cdna_start": 7357,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5866C>T",
"hgvs_p": "p.Arg1956Cys",
"transcript": "XM_006719003.3",
"protein_id": "XP_006719066.1",
"transcript_support_level": null,
"aa_start": 1956,
"aa_end": null,
"aa_length": 2381,
"cds_start": 5866,
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"cdna_start": 6853,
"cdna_end": null,
"cdna_length": 10793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
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"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2 B:1",
"phenotype_combined": "Pseudohypoaldosteronism type 2C|Neuropathy, hereditary sensory and autonomic, type 2A;Pseudohypoaldosteronism type 2C|Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}