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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: 3-42210085-CGGAGGAGGAGGA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=42210085&ref=CGGAGGAGGAGGA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 42210085,
"ref": "CGGAGGAGGAGGA",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_001265608.2",
"consequences": [
{
"aa_ref": "EEEEG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1910_1921delAGGAGGAGGAGG",
"hgvs_p": "p.Glu637_Glu640del",
"transcript": "ENST00000341421.7",
"protein_id": "ENSP00000340702.3",
"transcript_support_level": 1,
"aa_start": 637,
"aa_end": null,
"aa_length": 686,
"cds_start": 1910,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341421.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1963+121_1963+132delAGGAGGAGGAGG",
"hgvs_p": null,
"transcript": "NM_001042646.3",
"protein_id": "NP_001036111.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 953,
"cds_start": null,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000327628.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042646.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1963+121_1963+132delAGGAGGAGGAGG",
"hgvs_p": null,
"transcript": "ENST00000327628.10",
"protein_id": "ENSP00000328998.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 953,
"cds_start": null,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001042646.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327628.10"
},
{
"aa_ref": "EEEEG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.2084_2095delAGGAGGAGGAGG",
"hgvs_p": "p.Glu695_Glu698del",
"transcript": "NM_001265608.2",
"protein_id": "NP_001252537.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 744,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001265608.2"
},
{
"aa_ref": "EEEEG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1910_1921delAGGAGGAGGAGG",
"hgvs_p": "p.Glu637_Glu640del",
"transcript": "NM_014965.5",
"protein_id": "NP_055780.2",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 686,
"cds_start": 1910,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014965.5"
},
{
"aa_ref": "EEEEG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1862_1873delAGGAGGAGGAGG",
"hgvs_p": "p.Glu621_Glu624del",
"transcript": "NM_001265609.2",
"protein_id": "NP_001252538.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 670,
"cds_start": 1862,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001265609.2"
},
{
"aa_ref": "EEEEG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1862_1873delAGGAGGAGGAGG",
"hgvs_p": "p.Glu621_Glu624del",
"transcript": "ENST00000613405.4",
"protein_id": "ENSP00000483516.1",
"transcript_support_level": 2,
"aa_start": 621,
"aa_end": null,
"aa_length": 670,
"cds_start": 1862,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613405.4"
},
{
"aa_ref": "EEEEG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.2084_2095delAGGAGGAGGAGG",
"hgvs_p": "p.Glu695_Glu698del",
"transcript": "XM_024453400.2",
"protein_id": "XP_024309168.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 999,
"cds_start": 2084,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453400.2"
},
{
"aa_ref": "EEEEG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1910_1921delAGGAGGAGGAGG",
"hgvs_p": "p.Glu637_Glu640del",
"transcript": "XM_017005907.3",
"protein_id": "XP_016861396.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 941,
"cds_start": 1910,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005907.3"
},
{
"aa_ref": "EEEEG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1862_1873delAGGAGGAGGAGG",
"hgvs_p": "p.Glu621_Glu624del",
"transcript": "XM_017005908.2",
"protein_id": "XP_016861397.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 925,
"cds_start": 1862,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005908.2"
},
{
"aa_ref": "EEEEG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1772_1783delAGGAGGAGGAGG",
"hgvs_p": "p.Glu591_Glu594del",
"transcript": "XM_017005909.2",
"protein_id": "XP_016861398.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 895,
"cds_start": 1772,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005909.2"
},
{
"aa_ref": "EEEEG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1772_1783delAGGAGGAGGAGG",
"hgvs_p": "p.Glu591_Glu594del",
"transcript": "XM_047447717.1",
"protein_id": "XP_047303673.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 895,
"cds_start": 1772,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447717.1"
},
{
"aa_ref": "EEEEG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1772_1783delAGGAGGAGGAGG",
"hgvs_p": "p.Glu591_Glu594del",
"transcript": "XM_047447718.1",
"protein_id": "XP_047303674.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 895,
"cds_start": 1772,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447718.1"
},
{
"aa_ref": "EEEEG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1772_1783delAGGAGGAGGAGG",
"hgvs_p": "p.Glu591_Glu594del",
"transcript": "XM_047447719.1",
"protein_id": "XP_047303675.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 895,
"cds_start": 1772,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447719.1"
},
{
"aa_ref": "EEEEG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1772_1783delAGGAGGAGGAGG",
"hgvs_p": "p.Glu591_Glu594del",
"transcript": "XM_047447720.1",
"protein_id": "XP_047303676.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 895,
"cds_start": 1772,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447720.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.2047+121_2047+132delAGGAGGAGGAGG",
"hgvs_p": null,
"transcript": "ENST00000673621.3",
"protein_id": "ENSP00000500819.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 981,
"cds_start": null,
"cds_end": null,
"cds_length": 2946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673621.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1900+184_1900+195delAGGAGGAGGAGG",
"hgvs_p": null,
"transcript": "NM_001349246.2",
"protein_id": "NP_001336175.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 932,
"cds_start": null,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349246.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1789+121_1789+132delAGGAGGAGGAGG",
"hgvs_p": null,
"transcript": "NM_001410741.1",
"protein_id": "NP_001397670.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 895,
"cds_start": null,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410741.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1789+121_1789+132delAGGAGGAGGAGG",
"hgvs_p": null,
"transcript": "ENST00000396175.5",
"protein_id": "ENSP00000379478.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 895,
"cds_start": null,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396175.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1741+121_1741+132delAGGAGGAGGAGG",
"hgvs_p": null,
"transcript": "NM_001349249.1",
"protein_id": "NP_001336178.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 879,
"cds_start": null,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349249.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.1678+184_1678+195delAGGAGGAGGAGG",
"hgvs_p": null,
"transcript": "NM_001349248.1",
"protein_id": "NP_001336177.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 858,
"cds_start": null,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349248.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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