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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: 16-84459299-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=84459299&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 84459299,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001286527.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2246T>C",
"hgvs_p": "p.Leu749Pro",
"transcript": "NM_014861.4",
"protein_id": "NP_055676.3",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 946,
"cds_start": 2246,
"cds_end": null,
"cds_length": 2841,
"cdna_start": 2324,
"cdna_end": null,
"cdna_length": 3374,
"mane_select": "ENST00000262429.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014861.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2246T>C",
"hgvs_p": "p.Leu749Pro",
"transcript": "ENST00000262429.9",
"protein_id": "ENSP00000262429.4",
"transcript_support_level": 1,
"aa_start": 749,
"aa_end": null,
"aa_length": 946,
"cds_start": 2246,
"cds_end": null,
"cds_length": 2841,
"cdna_start": 2324,
"cdna_end": null,
"cdna_length": 3374,
"mane_select": "NM_014861.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262429.9"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2246T>C",
"hgvs_p": "p.Leu749Pro",
"transcript": "ENST00000416219.7",
"protein_id": "ENSP00000397925.2",
"transcript_support_level": 1,
"aa_start": 749,
"aa_end": null,
"aa_length": 975,
"cds_start": 2246,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 2335,
"cdna_end": null,
"cdna_length": 5064,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416219.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2-AS1",
"gene_hgnc_id": 53167,
"hgvs_c": "n.2958A>G",
"hgvs_p": null,
"transcript": "ENST00000565700.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2998,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000565700.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2246T>C",
"hgvs_p": "p.Leu749Pro",
"transcript": "NM_001286527.3",
"protein_id": "NP_001273456.2",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 975,
"cds_start": 2246,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 2324,
"cdna_end": null,
"cdna_length": 3461,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286527.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2321T>C",
"hgvs_p": "p.Leu774Pro",
"transcript": "ENST00000861763.1",
"protein_id": "ENSP00000531822.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 971,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 2410,
"cdna_end": null,
"cdna_length": 3737,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861763.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2321T>C",
"hgvs_p": "p.Leu774Pro",
"transcript": "ENST00000861768.1",
"protein_id": "ENSP00000531827.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 971,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 2361,
"cdna_end": null,
"cdna_length": 3408,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861768.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2264T>C",
"hgvs_p": "p.Leu755Pro",
"transcript": "ENST00000861767.1",
"protein_id": "ENSP00000531826.1",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 952,
"cds_start": 2264,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 2353,
"cdna_end": null,
"cdna_length": 3394,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861767.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2240T>C",
"hgvs_p": "p.Leu747Pro",
"transcript": "ENST00000861766.1",
"protein_id": "ENSP00000531825.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 944,
"cds_start": 2240,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 2329,
"cdna_end": null,
"cdna_length": 3372,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861766.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2240T>C",
"hgvs_p": "p.Leu747Pro",
"transcript": "ENST00000957789.1",
"protein_id": "ENSP00000627848.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 944,
"cds_start": 2240,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 2320,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957789.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2237T>C",
"hgvs_p": "p.Leu746Pro",
"transcript": "ENST00000861764.1",
"protein_id": "ENSP00000531823.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 943,
"cds_start": 2237,
"cds_end": null,
"cds_length": 2832,
"cdna_start": 2358,
"cdna_end": null,
"cdna_length": 3405,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861764.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2234T>C",
"hgvs_p": "p.Leu745Pro",
"transcript": "ENST00000861771.1",
"protein_id": "ENSP00000531830.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 942,
"cds_start": 2234,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 2312,
"cdna_end": null,
"cdna_length": 3174,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861771.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2144T>C",
"hgvs_p": "p.Leu715Pro",
"transcript": "ENST00000957791.1",
"protein_id": "ENSP00000627850.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 941,
"cds_start": 2144,
"cds_end": null,
"cds_length": 2826,
"cdna_start": 2223,
"cdna_end": null,
"cdna_length": 3171,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957791.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2144T>C",
"hgvs_p": "p.Leu715Pro",
"transcript": "ENST00000861762.1",
"protein_id": "ENSP00000531821.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 912,
"cds_start": 2144,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 2284,
"cdna_end": null,
"cdna_length": 3611,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861762.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2135T>C",
"hgvs_p": "p.Leu712Pro",
"transcript": "ENST00000957790.1",
"protein_id": "ENSP00000627849.1",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
"aa_length": 909,
"cds_start": 2135,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 2217,
"cdna_end": null,
"cdna_length": 3079,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957790.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2075T>C",
"hgvs_p": "p.Leu692Pro",
"transcript": "ENST00000861770.1",
"protein_id": "ENSP00000531829.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 889,
"cds_start": 2075,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 2164,
"cdna_end": null,
"cdna_length": 3029,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861770.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2027T>C",
"hgvs_p": "p.Leu676Pro",
"transcript": "ENST00000861765.1",
"protein_id": "ENSP00000531824.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 873,
"cds_start": 2027,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 2116,
"cdna_end": null,
"cdna_length": 3165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861765.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.1793T>C",
"hgvs_p": "p.Leu598Pro",
"transcript": "NM_001291454.2",
"protein_id": "NP_001278383.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 795,
"cds_start": 1793,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 1919,
"cdna_end": null,
"cdna_length": 2969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291454.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2177T>C",
"hgvs_p": "p.Leu726Pro",
"transcript": "XM_011523486.3",
"protein_id": "XP_011521788.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 952,
"cds_start": 2177,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 2427,
"cdna_end": null,
"cdna_length": 3564,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523486.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2177T>C",
"hgvs_p": "p.Leu726Pro",
"transcript": "XM_047434994.1",
"protein_id": "XP_047290950.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 923,
"cds_start": 2177,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 2422,
"cdna_end": null,
"cdna_length": 3472,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434994.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.1217T>C",
"hgvs_p": "p.Leu406Pro",
"transcript": "XM_011523487.3",
"protein_id": "XP_011521789.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 632,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 2608,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523487.3"
},
{
"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": 22,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2216+111T>C",
"hgvs_p": null,
"transcript": "ENST00000861769.1",
"protein_id": "ENSP00000531828.1",
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{
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"verdict": "Likely_pathogenic",
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{
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"verdict": "Likely_pathogenic",
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{
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"verdict": "Likely_pathogenic",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"custom_annotations": null
}
],
"message": null
}