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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: 22-33384205-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=33384205&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 33384205,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000397394.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.992C>G",
"hgvs_p": "p.Ser331Cys",
"transcript": "NM_133642.5",
"protein_id": "NP_598397.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 756,
"cds_start": 992,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1556,
"cdna_end": null,
"cdna_length": 4753,
"mane_select": "ENST00000397394.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.992C>G",
"hgvs_p": "p.Ser331Cys",
"transcript": "ENST00000397394.8",
"protein_id": "ENSP00000380549.2",
"transcript_support_level": 5,
"aa_start": 331,
"aa_end": null,
"aa_length": 756,
"cds_start": 992,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1556,
"cdna_end": null,
"cdna_length": 4753,
"mane_select": "NM_133642.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.992C>G",
"hgvs_p": "p.Ser331Cys",
"transcript": "ENST00000354992.7",
"protein_id": "ENSP00000347088.2",
"transcript_support_level": 1,
"aa_start": 331,
"aa_end": null,
"aa_length": 756,
"cds_start": 992,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1564,
"cdna_end": null,
"cdna_length": 4193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.992C>G",
"hgvs_p": "p.Ser331Cys",
"transcript": "ENST00000402320.6",
"protein_id": "ENSP00000385223.1",
"transcript_support_level": 1,
"aa_start": 331,
"aa_end": null,
"aa_length": 704,
"cds_start": 992,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 1494,
"cdna_end": null,
"cdna_length": 3967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.992C>G",
"hgvs_p": "p.Ser331Cys",
"transcript": "NM_001362949.2",
"protein_id": "NP_001349878.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 756,
"cds_start": 992,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 4538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.992C>G",
"hgvs_p": "p.Ser331Cys",
"transcript": "NM_001362951.2",
"protein_id": "NP_001349880.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 756,
"cds_start": 992,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 4358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.992C>G",
"hgvs_p": "p.Ser331Cys",
"transcript": "NM_001362953.2",
"protein_id": "NP_001349882.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 756,
"cds_start": 992,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1278,
"cdna_end": null,
"cdna_length": 4475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.992C>G",
"hgvs_p": "p.Ser331Cys",
"transcript": "NM_001378624.1",
"protein_id": "NP_001365553.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 756,
"cds_start": 992,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1224,
"cdna_end": null,
"cdna_length": 4421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.992C>G",
"hgvs_p": "p.Ser331Cys",
"transcript": "NM_001378625.1",
"protein_id": "NP_001365554.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 756,
"cds_start": 992,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1359,
"cdna_end": null,
"cdna_length": 4556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.992C>G",
"hgvs_p": "p.Ser331Cys",
"transcript": "NM_001378626.1",
"protein_id": "NP_001365555.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 756,
"cds_start": 992,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1296,
"cdna_end": null,
"cdna_length": 4493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.992C>G",
"hgvs_p": "p.Ser331Cys",
"transcript": "NM_004737.7",
"protein_id": "NP_004728.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 756,
"cds_start": 992,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1619,
"cdna_end": null,
"cdna_length": 4816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.992C>G",
"hgvs_p": "p.Ser331Cys",
"transcript": "ENST00000413114.6",
"protein_id": "ENSP00000415546.2",
"transcript_support_level": 4,
"aa_start": 331,
"aa_end": null,
"aa_length": 756,
"cds_start": 992,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1358,
"cdna_end": null,
"cdna_length": 3987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.992C>G",
"hgvs_p": "p.Ser331Cys",
"transcript": "ENST00000675416.1",
"protein_id": "ENSP00000502826.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 756,
"cds_start": 992,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 3824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.992C>G",
"hgvs_p": "p.Ser331Cys",
"transcript": "ENST00000676070.1",
"protein_id": "ENSP00000502152.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
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"cds_start": 992,
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"cdna_start": 1283,
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"cdna_length": 3912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.992C>G",
"hgvs_p": "p.Ser331Cys",
"transcript": "ENST00000676132.1",
"protein_id": "ENSP00000501854.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 756,
"cds_start": 992,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 3822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.992C>G",
"hgvs_p": "p.Ser331Cys",
"transcript": "ENST00000676370.1",
"protein_id": "ENSP00000502238.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
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"cds_start": 992,
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"cdna_start": 1194,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.992C>G",
"hgvs_p": "p.Ser331Cys",
"transcript": "ENST00000674668.1",
"protein_id": "ENSP00000502103.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 714,
"cds_start": 992,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1074,
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"cdna_length": 3577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.992C>G",
"hgvs_p": "p.Ser331Cys",
"transcript": "NM_001378627.1",
"protein_id": "NP_001365556.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 707,
"cds_start": 992,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 1161,
"cdna_end": null,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.992C>G",
"hgvs_p": "p.Ser331Cys",
"transcript": "NM_001378628.1",
"protein_id": "NP_001365557.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
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"cds_start": 992,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.992C>G",
"hgvs_p": "p.Ser331Cys",
"transcript": "ENST00000674789.1",
"protein_id": "ENSP00000501941.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 707,
"cds_start": 992,
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"cdna_start": 1194,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.992C>G",
"hgvs_p": "p.Ser331Cys",
"transcript": "NM_001378629.1",
"protein_id": "NP_001365558.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 704,
"cds_start": 992,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 1556,
"cdna_end": null,
"cdna_length": 4597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.788C>G",
"hgvs_p": "p.Ser263Cys",
"transcript": "ENST00000674999.1",
"protein_id": "ENSP00000502711.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 688,
"cds_start": 788,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 1141,
"cdna_end": null,
"cdna_length": 3770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
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}
],
"message": null
}