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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: 11-94420139-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=94420139&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 94420139,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000323929.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2113A>G",
"hgvs_p": "p.Arg705Gly",
"transcript": "NM_005591.4",
"protein_id": "NP_005582.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 708,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 2272,
"cdna_end": null,
"cdna_length": 6841,
"mane_select": "ENST00000323929.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2113A>G",
"hgvs_p": "p.Arg705Gly",
"transcript": "ENST00000323929.8",
"protein_id": "ENSP00000325863.4",
"transcript_support_level": 1,
"aa_start": 705,
"aa_end": null,
"aa_length": 708,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 2272,
"cdna_end": null,
"cdna_length": 6841,
"mane_select": "NM_005591.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2029A>G",
"hgvs_p": "p.Arg677Gly",
"transcript": "ENST00000323977.7",
"protein_id": "ENSP00000326094.3",
"transcript_support_level": 1,
"aa_start": 677,
"aa_end": null,
"aa_length": 680,
"cds_start": 2029,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 2325,
"cdna_end": null,
"cdna_length": 2588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2164A>G",
"hgvs_p": "p.Arg722Gly",
"transcript": "NM_001440460.1",
"protein_id": "NP_001427389.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 725,
"cds_start": 2164,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 2323,
"cdna_end": null,
"cdna_length": 6892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2164A>G",
"hgvs_p": "p.Arg722Gly",
"transcript": "NM_001440461.1",
"protein_id": "NP_001427390.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 725,
"cds_start": 2164,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 2430,
"cdna_end": null,
"cdna_length": 6999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2122A>G",
"hgvs_p": "p.Arg708Gly",
"transcript": "ENST00000407439.7",
"protein_id": "ENSP00000385614.3",
"transcript_support_level": 2,
"aa_start": 708,
"aa_end": null,
"aa_length": 711,
"cds_start": 2122,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 2411,
"cdna_end": null,
"cdna_length": 2684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2113A>G",
"hgvs_p": "p.Arg705Gly",
"transcript": "NM_001440462.1",
"protein_id": "NP_001427391.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 708,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 2379,
"cdna_end": null,
"cdna_length": 6948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2113A>G",
"hgvs_p": "p.Arg705Gly",
"transcript": "NM_001440463.1",
"protein_id": "NP_001427392.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 708,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 2370,
"cdna_end": null,
"cdna_length": 6939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2110A>G",
"hgvs_p": "p.Arg704Gly",
"transcript": "NM_001330347.2",
"protein_id": "NP_001317276.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 707,
"cds_start": 2110,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 2269,
"cdna_end": null,
"cdna_length": 6838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2110A>G",
"hgvs_p": "p.Arg704Gly",
"transcript": "NM_001440464.1",
"protein_id": "NP_001427393.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 707,
"cds_start": 2110,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 2376,
"cdna_end": null,
"cdna_length": 6945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2110A>G",
"hgvs_p": "p.Arg704Gly",
"transcript": "NM_001440465.1",
"protein_id": "NP_001427394.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 707,
"cds_start": 2110,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 2260,
"cdna_end": null,
"cdna_length": 6829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2110A>G",
"hgvs_p": "p.Arg704Gly",
"transcript": "ENST00000393241.8",
"protein_id": "ENSP00000376933.4",
"transcript_support_level": 5,
"aa_start": 704,
"aa_end": null,
"aa_length": 707,
"cds_start": 2110,
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"cds_length": 2124,
"cdna_start": 2343,
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"cdna_length": 2604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2080A>G",
"hgvs_p": "p.Arg694Gly",
"transcript": "NM_001440466.1",
"protein_id": "NP_001427395.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 697,
"cds_start": 2080,
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"cds_length": 2094,
"cdna_start": 2346,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2050A>G",
"hgvs_p": "p.Arg684Gly",
"transcript": "NM_001440467.1",
"protein_id": "NP_001427396.1",
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2050A>G",
"hgvs_p": "p.Arg684Gly",
"transcript": "NM_001440468.1",
"protein_id": "NP_001427397.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 687,
"cds_start": 2050,
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"cdna_start": 2316,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2050A>G",
"hgvs_p": "p.Arg684Gly",
"transcript": "NM_001440469.1",
"protein_id": "NP_001427398.1",
"transcript_support_level": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2047A>G",
"hgvs_p": "p.Arg683Gly",
"transcript": "NM_001440470.1",
"protein_id": "NP_001427399.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 686,
"cds_start": 2047,
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"cdna_start": 2313,
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"cdna_length": 6882,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2038A>G",
"hgvs_p": "p.Arg680Gly",
"transcript": "NM_001440471.1",
"protein_id": "NP_001427400.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 683,
"cds_start": 2038,
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"cdna_start": 2412,
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"cdna_length": 6981,
"mane_select": null,
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"feature": null
},
{
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"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2035A>G",
"hgvs_p": "p.Arg679Gly",
"transcript": "NM_001440472.1",
"protein_id": "NP_001427401.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2032A>G",
"hgvs_p": "p.Arg678Gly",
"transcript": "NM_001440473.1",
"protein_id": "NP_001427402.1",
"transcript_support_level": null,
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"aa_end": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2029A>G",
"hgvs_p": "p.Arg677Gly",
"transcript": "NM_001440474.1",
"protein_id": "NP_001427403.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 680,
"cds_start": 2029,
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"cdna_start": 2188,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2029A>G",
"hgvs_p": "p.Arg677Gly",
"transcript": "NM_001440475.1",
"protein_id": "NP_001427404.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 680,
"cds_start": 2029,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 2286,
"cdna_end": null,
"cdna_length": 6855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2029A>G",
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}
],
"message": null
}