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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: 17-770458-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=770458&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 770458,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001389725.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Ala198Val",
"transcript": "NM_016080.4",
"protein_id": "NP_057164.3",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 298,
"cds_start": 593,
"cds_end": null,
"cds_length": 897,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 1765,
"mane_select": "ENST00000301329.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016080.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Ala198Val",
"transcript": "ENST00000301329.11",
"protein_id": "ENSP00000301329.6",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 298,
"cds_start": 593,
"cds_end": null,
"cds_length": 897,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 1765,
"mane_select": "NM_016080.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301329.11"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Ala213Val",
"transcript": "ENST00000301328.9",
"protein_id": "ENSP00000301328.5",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 313,
"cds_start": 638,
"cds_end": null,
"cds_length": 942,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 1809,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301328.9"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.791C>T",
"hgvs_p": "p.Ala264Val",
"transcript": "NM_001389725.1",
"protein_id": "NP_001376654.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 364,
"cds_start": 791,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 816,
"cdna_end": null,
"cdna_length": 1963,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389725.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Ala235Val",
"transcript": "NM_001389726.1",
"protein_id": "NP_001376655.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 335,
"cds_start": 704,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 1876,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389726.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Ala235Val",
"transcript": "ENST00000891260.1",
"protein_id": "ENSP00000561319.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 335,
"cds_start": 704,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 1762,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891260.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Ala198Val",
"transcript": "NM_001389727.1",
"protein_id": "NP_001376656.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 326,
"cds_start": 593,
"cds_end": null,
"cds_length": 981,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 1134,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389727.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Ala213Val",
"transcript": "NM_001366247.2",
"protein_id": "NP_001353176.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 313,
"cds_start": 638,
"cds_end": null,
"cds_length": 942,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 1810,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366247.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.587C>T",
"hgvs_p": "p.Ala196Val",
"transcript": "ENST00000940416.1",
"protein_id": "ENSP00000610475.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 296,
"cds_start": 587,
"cds_end": null,
"cds_length": 891,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 1830,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940416.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ala193Val",
"transcript": "ENST00000940420.1",
"protein_id": "ENSP00000610479.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 293,
"cds_start": 578,
"cds_end": null,
"cds_length": 882,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 1745,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940420.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ala193Val",
"transcript": "ENST00000956992.1",
"protein_id": "ENSP00000627051.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 293,
"cds_start": 578,
"cds_end": null,
"cds_length": 882,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 1760,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956992.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.566C>T",
"hgvs_p": "p.Ala189Val",
"transcript": "NM_001366249.2",
"protein_id": "NP_001353178.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 289,
"cds_start": 566,
"cds_end": null,
"cds_length": 870,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 2141,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366249.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.566C>T",
"hgvs_p": "p.Ala189Val",
"transcript": "NM_001366250.2",
"protein_id": "NP_001353179.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 289,
"cds_start": 566,
"cds_end": null,
"cds_length": 870,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 1838,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366250.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.566C>T",
"hgvs_p": "p.Ala189Val",
"transcript": "NM_001389728.1",
"protein_id": "NP_001376657.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 289,
"cds_start": 566,
"cds_end": null,
"cds_length": 870,
"cdna_start": 872,
"cdna_end": null,
"cdna_length": 2019,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389728.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.566C>T",
"hgvs_p": "p.Ala189Val",
"transcript": "NM_001389729.1",
"protein_id": "NP_001376658.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 289,
"cds_start": 566,
"cds_end": null,
"cds_length": 870,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 1893,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389729.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.566C>T",
"hgvs_p": "p.Ala189Val",
"transcript": "NM_001389730.1",
"protein_id": "NP_001376659.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 289,
"cds_start": 566,
"cds_end": null,
"cds_length": 870,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 2040,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389730.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Ala198Val",
"transcript": "NM_001389731.1",
"protein_id": "NP_001376660.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 285,
"cds_start": 593,
"cds_end": null,
"cds_length": 858,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 1726,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389731.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Ala198Val",
"transcript": "NM_001389732.1",
"protein_id": "NP_001376661.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 280,
"cds_start": 593,
"cds_end": null,
"cds_length": 843,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 1711,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389732.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ala180Val",
"transcript": "ENST00000940417.1",
"protein_id": "ENSP00000610476.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 280,
"cds_start": 539,
"cds_end": null,
"cds_length": 843,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 1770,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940417.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Ala198Val",
"transcript": "NM_001389733.1",
"protein_id": "NP_001376662.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 279,
"cds_start": 593,
"cds_end": null,
"cds_length": 840,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 1708,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389733.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Ala198Val",
"transcript": "NM_001389735.1",
"protein_id": "NP_001376664.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 260,
"cds_start": 593,
"cds_end": null,
"cds_length": 783,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 1651,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389735.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Ala198Val",
"transcript": "ENST00000891259.1",
"protein_id": "ENSP00000561318.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 260,
"cds_start": 593,
"cds_end": null,
"cds_length": 783,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 1660,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891259.1"
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{
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}