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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: 10-94322006-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=94322006&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 94322006,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000371380.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.6448C>T",
"hgvs_p": "p.Arg2150*",
"transcript": "NM_016341.4",
"protein_id": "NP_057425.3",
"transcript_support_level": null,
"aa_start": 2150,
"aa_end": null,
"aa_length": 2302,
"cds_start": 6448,
"cds_end": null,
"cds_length": 6909,
"cdna_start": 7140,
"cdna_end": null,
"cdna_length": 12481,
"mane_select": "ENST00000371380.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.6448C>T",
"hgvs_p": "p.Arg2150*",
"transcript": "ENST00000371380.8",
"protein_id": "ENSP00000360431.2",
"transcript_support_level": 1,
"aa_start": 2150,
"aa_end": null,
"aa_length": 2302,
"cds_start": 6448,
"cds_end": null,
"cds_length": 6909,
"cdna_start": 7140,
"cdna_end": null,
"cdna_length": 12481,
"mane_select": "NM_016341.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.5524C>T",
"hgvs_p": "p.Arg1842*",
"transcript": "ENST00000371375.2",
"protein_id": "ENSP00000360426.1",
"transcript_support_level": 1,
"aa_start": 1842,
"aa_end": null,
"aa_length": 1994,
"cds_start": 5524,
"cds_end": null,
"cds_length": 5985,
"cdna_start": 5524,
"cdna_end": null,
"cdna_length": 9275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.6400C>T",
"hgvs_p": "p.Arg2134*",
"transcript": "NM_001288989.2",
"protein_id": "NP_001275918.1",
"transcript_support_level": null,
"aa_start": 2134,
"aa_end": null,
"aa_length": 2286,
"cds_start": 6400,
"cds_end": null,
"cds_length": 6861,
"cdna_start": 7092,
"cdna_end": null,
"cdna_length": 12433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.6400C>T",
"hgvs_p": "p.Arg2134*",
"transcript": "ENST00000692396.1",
"protein_id": "ENSP00000508605.1",
"transcript_support_level": null,
"aa_start": 2134,
"aa_end": null,
"aa_length": 2286,
"cds_start": 6400,
"cds_end": null,
"cds_length": 6861,
"cdna_start": 6989,
"cdna_end": null,
"cdna_length": 9157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.6316C>T",
"hgvs_p": "p.Arg2106*",
"transcript": "ENST00000692286.1",
"protein_id": "ENSP00000509490.1",
"transcript_support_level": null,
"aa_start": 2106,
"aa_end": null,
"aa_length": 2230,
"cds_start": 6316,
"cds_end": null,
"cds_length": 6694,
"cdna_start": 6646,
"cdna_end": null,
"cdna_length": 7024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.5524C>T",
"hgvs_p": "p.Arg1842*",
"transcript": "NM_001165979.2",
"protein_id": "NP_001159451.1",
"transcript_support_level": null,
"aa_start": 1842,
"aa_end": null,
"aa_length": 1994,
"cds_start": 5524,
"cds_end": null,
"cds_length": 5985,
"cdna_start": 5593,
"cdna_end": null,
"cdna_length": 6503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.5524C>T",
"hgvs_p": "p.Arg1842*",
"transcript": "ENST00000675218.1",
"protein_id": "ENSP00000501910.1",
"transcript_support_level": null,
"aa_start": 1842,
"aa_end": null,
"aa_length": 1994,
"cds_start": 5524,
"cds_end": null,
"cds_length": 5985,
"cdna_start": 5524,
"cdna_end": null,
"cdna_length": 6381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.5476C>T",
"hgvs_p": "p.Arg1826*",
"transcript": "ENST00000688810.1",
"protein_id": "ENSP00000509140.1",
"transcript_support_level": null,
"aa_start": 1826,
"aa_end": null,
"aa_length": 1978,
"cds_start": 5476,
"cds_end": null,
"cds_length": 5937,
"cdna_start": 5476,
"cdna_end": null,
"cdna_length": 7644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.5422C>T",
"hgvs_p": "p.Arg1808*",
"transcript": "ENST00000371385.8",
"protein_id": "ENSP00000360438.4",
"transcript_support_level": 5,
"aa_start": 1808,
"aa_end": null,
"aa_length": 1960,
"cds_start": 5422,
"cds_end": null,
"cds_length": 5883,
"cdna_start": 5477,
"cdna_end": null,
"cdna_length": 6360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.4564C>T",
"hgvs_p": "p.Arg1522*",
"transcript": "ENST00000674827.1",
"protein_id": "ENSP00000502523.1",
"transcript_support_level": null,
"aa_start": 1522,
"aa_end": null,
"aa_length": 1527,
"cds_start": 4564,
"cds_end": null,
"cds_length": 4584,
"cdna_start": 4564,
"cdna_end": null,
"cdna_length": 4584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.6490C>T",
"hgvs_p": "p.Arg2164*",
"transcript": "XM_006717885.5",
"protein_id": "XP_006717948.1",
"transcript_support_level": null,
"aa_start": 2164,
"aa_end": null,
"aa_length": 2316,
"cds_start": 6490,
"cds_end": null,
"cds_length": 6951,
"cdna_start": 7182,
"cdna_end": null,
"cdna_length": 12523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.6490C>T",
"hgvs_p": "p.Arg2164*",
"transcript": "XM_017016310.3",
"protein_id": "XP_016871799.1",
"transcript_support_level": null,
"aa_start": 2164,
"aa_end": null,
"aa_length": 2316,
"cds_start": 6490,
"cds_end": null,
"cds_length": 6951,
"cdna_start": 7229,
"cdna_end": null,
"cdna_length": 12570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.6490C>T",
"hgvs_p": "p.Arg2164*",
"transcript": "XM_017016311.3",
"protein_id": "XP_016871800.1",
"transcript_support_level": null,
"aa_start": 2164,
"aa_end": null,
"aa_length": 2316,
"cds_start": 6490,
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"cdna_start": 7182,
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"cdna_length": 10857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.6490C>T",
"hgvs_p": "p.Arg2164*",
"transcript": "XM_047425284.1",
"protein_id": "XP_047281240.1",
"transcript_support_level": null,
"aa_start": 2164,
"aa_end": null,
"aa_length": 2316,
"cds_start": 6490,
"cds_end": null,
"cds_length": 6951,
"cdna_start": 6908,
"cdna_end": null,
"cdna_length": 12249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.6490C>T",
"hgvs_p": "p.Arg2164*",
"transcript": "XM_047425285.1",
"protein_id": "XP_047281241.1",
"transcript_support_level": null,
"aa_start": 2164,
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"cdna_start": 8664,
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"cdna_length": 14005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.6490C>T",
"hgvs_p": "p.Arg2164*",
"transcript": "XM_047425286.1",
"protein_id": "XP_047281242.1",
"transcript_support_level": null,
"aa_start": 2164,
"aa_end": null,
"aa_length": 2316,
"cds_start": 6490,
"cds_end": null,
"cds_length": 6951,
"cdna_start": 7267,
"cdna_end": null,
"cdna_length": 12608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.6490C>T",
"hgvs_p": "p.Arg2164*",
"transcript": "XM_047425287.1",
"protein_id": "XP_047281243.1",
"transcript_support_level": null,
"aa_start": 2164,
"aa_end": null,
"aa_length": 2316,
"cds_start": 6490,
"cds_end": null,
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"cdna_start": 7314,
"cdna_end": null,
"cdna_length": 12655,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.6487C>T",
"hgvs_p": "p.Arg2163*",
"transcript": "XM_006717888.5",
"protein_id": "XP_006717951.1",
"transcript_support_level": null,
"aa_start": 2163,
"aa_end": null,
"aa_length": 2315,
"cds_start": 6487,
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"cdna_start": 7179,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.6487C>T",
"hgvs_p": "p.Arg2163*",
"transcript": "XM_047425288.1",
"protein_id": "XP_047281244.1",
"transcript_support_level": null,
"aa_start": 2163,
"aa_end": null,
"aa_length": 2315,
"cds_start": 6487,
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"cdna_start": 7179,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.6448C>T",
"hgvs_p": "p.Arg2150*",
"transcript": "XM_047425289.1",
"protein_id": "XP_047281245.1",
"transcript_support_level": null,
"aa_start": 2150,
"aa_end": null,
"aa_length": 2302,
"cds_start": 6448,
"cds_end": null,
"cds_length": 6909,
"cdna_start": 7432,
"cdna_end": null,
"cdna_length": 12773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.6448C>T",
"hgvs_p": "p.Arg2150*",
"transcript": "XM_047425290.1",
"protein_id": "XP_047281246.1",
"transcript_support_level": null,
"aa_start": 2150,
"aa_end": null,
"aa_length": 2302,
"cds_start": 6448,
"cds_end": null,
"cds_length": 6909,
"cdna_start": 7187,
"cdna_end": null,
"cdna_length": 12528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
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],
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"bayesdelnoaf_score": 0.5,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
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"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000371380.8",
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"effects": [
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"inheritance_mode": "AR,AD",
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{
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"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
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],
"clinvar_disease": " type 3,Nephrotic syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Nephrotic syndrome, type 3",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}