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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: 2-127651063-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=127651063&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 127651063,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005291.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR17",
"gene_hgnc_id": 4471,
"hgvs_c": "c.328C>T",
"hgvs_p": "p.Leu110Phe",
"transcript": "NM_001161417.2",
"protein_id": "NP_001154889.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 339,
"cds_start": 328,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000486700.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161417.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR17",
"gene_hgnc_id": 4471,
"hgvs_c": "c.328C>T",
"hgvs_p": "p.Leu110Phe",
"transcript": "ENST00000486700.2",
"protein_id": "ENSP00000508383.1",
"transcript_support_level": 1,
"aa_start": 110,
"aa_end": null,
"aa_length": 339,
"cds_start": 328,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001161417.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000486700.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR17",
"gene_hgnc_id": 4471,
"hgvs_c": "c.412C>T",
"hgvs_p": "p.Leu138Phe",
"transcript": "ENST00000272644.7",
"protein_id": "ENSP00000272644.3",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 367,
"cds_start": 412,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272644.7"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR17",
"gene_hgnc_id": 4471,
"hgvs_c": "c.412C>T",
"hgvs_p": "p.Leu138Phe",
"transcript": "ENST00000393018.3",
"protein_id": "ENSP00000376741.3",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 367,
"cds_start": 412,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393018.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.359+3361G>A",
"hgvs_p": null,
"transcript": "NM_001161403.3",
"protein_id": "NP_001154875.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": null,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355119.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161403.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.359+3361G>A",
"hgvs_p": null,
"transcript": "ENST00000355119.9",
"protein_id": "ENSP00000347240.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": null,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001161403.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355119.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.431+3361G>A",
"hgvs_p": null,
"transcript": "ENST00000324938.9",
"protein_id": "ENSP00000326888.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 365,
"cds_start": null,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324938.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.344+3361G>A",
"hgvs_p": null,
"transcript": "ENST00000409455.5",
"protein_id": "ENSP00000386383.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 336,
"cds_start": null,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409455.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.344+3361G>A",
"hgvs_p": null,
"transcript": "ENST00000410011.5",
"protein_id": "ENSP00000387002.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 336,
"cds_start": null,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410011.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR17",
"gene_hgnc_id": 4471,
"hgvs_c": "c.412C>T",
"hgvs_p": "p.Leu138Phe",
"transcript": "NM_001161415.2",
"protein_id": "NP_001154887.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 367,
"cds_start": 412,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161415.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR17",
"gene_hgnc_id": 4471,
"hgvs_c": "c.412C>T",
"hgvs_p": "p.Leu138Phe",
"transcript": "NM_005291.3",
"protein_id": "NP_005282.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 367,
"cds_start": 412,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005291.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR17",
"gene_hgnc_id": 4471,
"hgvs_c": "c.412C>T",
"hgvs_p": "p.Leu138Phe",
"transcript": "ENST00000544369.5",
"protein_id": "ENSP00000442982.1",
"transcript_support_level": 5,
"aa_start": 138,
"aa_end": null,
"aa_length": 367,
"cds_start": 412,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544369.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR17",
"gene_hgnc_id": 4471,
"hgvs_c": "c.328C>T",
"hgvs_p": "p.Leu110Phe",
"transcript": "NM_001161416.2",
"protein_id": "NP_001154888.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 339,
"cds_start": 328,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161416.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR17",
"gene_hgnc_id": 4471,
"hgvs_c": "c.328C>T",
"hgvs_p": "p.Leu110Phe",
"transcript": "ENST00000957151.1",
"protein_id": "ENSP00000627210.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 339,
"cds_start": 328,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957151.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.359+3361G>A",
"hgvs_p": null,
"transcript": "ENST00000855737.1",
"protein_id": "ENSP00000525796.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 514,
"cds_start": null,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855737.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.359+3361G>A",
"hgvs_p": null,
"transcript": "ENST00000855740.1",
"protein_id": "ENSP00000525799.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 477,
"cds_start": null,
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"cds_length": 1434,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855740.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.359+3361G>A",
"hgvs_p": null,
"transcript": "ENST00000855742.1",
"protein_id": "ENSP00000525801.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 473,
"cds_start": null,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855742.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.359+3361G>A",
"hgvs_p": null,
"transcript": "ENST00000957032.1",
"protein_id": "ENSP00000627091.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 420,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957032.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.359+3361G>A",
"hgvs_p": null,
"transcript": "ENST00000957031.1",
"protein_id": "ENSP00000627090.1",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957031.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.359+3361G>A",
"hgvs_p": null,
"transcript": "ENST00000855738.1",
"protein_id": "ENSP00000525797.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855738.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.431+3361G>A",
"hgvs_p": null,
"transcript": "NM_017980.5",
"protein_id": "NP_060450.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 365,
"cds_start": null,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017980.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.425+3361G>A",
"hgvs_p": null,
"transcript": "NM_001136037.4",
"protein_id": "NP_001129509.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 363,
"cds_start": null,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136037.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
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"phenotype_combined": "not specified",
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}
],
"message": null
}