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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: 6-138908801-G-GTGT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=138908801&ref=G&alt=GTGT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 138908801,
"ref": "G",
"alt": "GTGT",
"effect": "conservative_inframe_insertion",
"transcript": "NM_001286611.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "TT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.2080_2082dupACA",
"hgvs_p": "p.Thr694dup",
"transcript": "NM_001286611.2",
"protein_id": "NP_001273540.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 796,
"cds_start": 2082,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000450536.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286611.2"
},
{
"aa_ref": "T",
"aa_alt": "TT",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.2080_2082dupACA",
"hgvs_p": "p.Thr694dup",
"transcript": "ENST00000450536.7",
"protein_id": "ENSP00000392065.2",
"transcript_support_level": 1,
"aa_start": 694,
"aa_end": null,
"aa_length": 796,
"cds_start": 2082,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001286611.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450536.7"
},
{
"aa_ref": "T",
"aa_alt": "TT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.2077_2079dupACA",
"hgvs_p": "p.Thr693dup",
"transcript": "ENST00000258062.9",
"protein_id": "ENSP00000258062.5",
"transcript_support_level": 1,
"aa_start": 693,
"aa_end": null,
"aa_length": 795,
"cds_start": 2079,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258062.9"
},
{
"aa_ref": "T",
"aa_alt": "TT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.1807_1809dupACA",
"hgvs_p": "p.Thr603dup",
"transcript": "ENST00000409812.6",
"protein_id": "ENSP00000386699.2",
"transcript_support_level": 1,
"aa_start": 603,
"aa_end": null,
"aa_length": 705,
"cds_start": 1809,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409812.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "n.807_809dupACA",
"hgvs_p": null,
"transcript": "ENST00000484164.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000484164.6"
},
{
"aa_ref": "T",
"aa_alt": "TT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.2104_2106dupACA",
"hgvs_p": "p.Thr702dup",
"transcript": "ENST00000913792.1",
"protein_id": "ENSP00000583851.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 804,
"cds_start": 2106,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913792.1"
},
{
"aa_ref": "T",
"aa_alt": "TT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.2095_2097dupACA",
"hgvs_p": "p.Thr699dup",
"transcript": "ENST00000913794.1",
"protein_id": "ENSP00000583853.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 801,
"cds_start": 2097,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913794.1"
},
{
"aa_ref": "T",
"aa_alt": "TT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.2077_2079dupACA",
"hgvs_p": "p.Thr693dup",
"transcript": "NM_031922.5",
"protein_id": "NP_114128.3",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 795,
"cds_start": 2079,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031922.5"
},
{
"aa_ref": "T",
"aa_alt": "TT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.2077_2079dupACA",
"hgvs_p": "p.Thr693dup",
"transcript": "ENST00000886446.1",
"protein_id": "ENSP00000556505.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 795,
"cds_start": 2079,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886446.1"
},
{
"aa_ref": "T",
"aa_alt": "TT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.2074_2076dupACA",
"hgvs_p": "p.Thr692dup",
"transcript": "ENST00000886454.1",
"protein_id": "ENSP00000556513.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 794,
"cds_start": 2076,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886454.1"
},
{
"aa_ref": "T",
"aa_alt": "TT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.2074_2076dupACA",
"hgvs_p": "p.Thr692dup",
"transcript": "ENST00000913795.1",
"protein_id": "ENSP00000583854.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 794,
"cds_start": 2076,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913795.1"
},
{
"aa_ref": "T",
"aa_alt": "TT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.2038_2040dupACA",
"hgvs_p": "p.Thr680dup",
"transcript": "ENST00000886449.1",
"protein_id": "ENSP00000556508.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 782,
"cds_start": 2040,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886449.1"
},
{
"aa_ref": "T",
"aa_alt": "TT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.2020_2022dupACA",
"hgvs_p": "p.Thr674dup",
"transcript": "ENST00000968036.1",
"protein_id": "ENSP00000638095.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 776,
"cds_start": 2022,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968036.1"
},
{
"aa_ref": "T",
"aa_alt": "TT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.2017_2019dupACA",
"hgvs_p": "p.Thr673dup",
"transcript": "ENST00000886450.1",
"protein_id": "ENSP00000556510.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 775,
"cds_start": 2019,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886450.1"
},
{
"aa_ref": "T",
"aa_alt": "TT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.2017_2019dupACA",
"hgvs_p": "p.Thr673dup",
"transcript": "ENST00000968037.1",
"protein_id": "ENSP00000638096.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 775,
"cds_start": 2019,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968037.1"
},
{
"aa_ref": "T",
"aa_alt": "TT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.2014_2016dupACA",
"hgvs_p": "p.Thr672dup",
"transcript": "ENST00000886452.1",
"protein_id": "ENSP00000556511.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 774,
"cds_start": 2016,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886452.1"
},
{
"aa_ref": "T",
"aa_alt": "TT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.2014_2016dupACA",
"hgvs_p": "p.Thr672dup",
"transcript": "ENST00000886458.1",
"protein_id": "ENSP00000556517.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 774,
"cds_start": 2016,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886458.1"
},
{
"aa_ref": "T",
"aa_alt": "TT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.2011_2013dupACA",
"hgvs_p": "p.Thr671dup",
"transcript": "ENST00000968035.1",
"protein_id": "ENSP00000638094.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 773,
"cds_start": 2013,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968035.1"
},
{
"aa_ref": "T",
"aa_alt": "TT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.1999_2001dupACA",
"hgvs_p": "p.Thr667dup",
"transcript": "NM_001128617.3",
"protein_id": "NP_001122089.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 769,
"cds_start": 2001,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128617.3"
},
{
"aa_ref": "T",
"aa_alt": "TT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.1999_2001dupACA",
"hgvs_p": "p.Thr667dup",
"transcript": "ENST00000367663.8",
"protein_id": "ENSP00000356635.4",
"transcript_support_level": 5,
"aa_start": 667,
"aa_end": null,
"aa_length": 769,
"cds_start": 2001,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367663.8"
},
{
"aa_ref": "T",
"aa_alt": "TT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.1990_1992dupACA",
"hgvs_p": "p.Thr664dup",
"transcript": "ENST00000886462.1",
"protein_id": "ENSP00000556521.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 766,
"cds_start": 1992,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886462.1"
},
{
"aa_ref": "T",
"aa_alt": "TT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
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}
],
"message": null
}