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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-GTGT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=138908801&ref=GTGT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 138908801,
"ref": "GTGT",
"alt": "G",
"effect": "conservative_inframe_deletion",
"transcript": "NM_001286611.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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_2082delACA",
"hgvs_p": "p.Thr694del",
"transcript": "NM_001286611.2",
"protein_id": "NP_001273540.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 796,
"cds_start": 2080,
"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": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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_2082delACA",
"hgvs_p": "p.Thr694del",
"transcript": "ENST00000450536.7",
"protein_id": "ENSP00000392065.2",
"transcript_support_level": 1,
"aa_start": 694,
"aa_end": null,
"aa_length": 796,
"cds_start": 2080,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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_2079delACA",
"hgvs_p": "p.Thr693del",
"transcript": "ENST00000258062.9",
"protein_id": "ENSP00000258062.5",
"transcript_support_level": 1,
"aa_start": 693,
"aa_end": null,
"aa_length": 795,
"cds_start": 2077,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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_1809delACA",
"hgvs_p": "p.Thr603del",
"transcript": "ENST00000409812.6",
"protein_id": "ENSP00000386699.2",
"transcript_support_level": 1,
"aa_start": 603,
"aa_end": null,
"aa_length": 705,
"cds_start": 1807,
"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_809delACA",
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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_2106delACA",
"hgvs_p": "p.Thr702del",
"transcript": "ENST00000913792.1",
"protein_id": "ENSP00000583851.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 804,
"cds_start": 2104,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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_2097delACA",
"hgvs_p": "p.Thr699del",
"transcript": "ENST00000913794.1",
"protein_id": "ENSP00000583853.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 801,
"cds_start": 2095,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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_2079delACA",
"hgvs_p": "p.Thr693del",
"transcript": "NM_031922.5",
"protein_id": "NP_114128.3",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 795,
"cds_start": 2077,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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_2079delACA",
"hgvs_p": "p.Thr693del",
"transcript": "ENST00000886446.1",
"protein_id": "ENSP00000556505.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 795,
"cds_start": 2077,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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_2076delACA",
"hgvs_p": "p.Thr692del",
"transcript": "ENST00000886454.1",
"protein_id": "ENSP00000556513.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 794,
"cds_start": 2074,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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_2076delACA",
"hgvs_p": "p.Thr692del",
"transcript": "ENST00000913795.1",
"protein_id": "ENSP00000583854.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 794,
"cds_start": 2074,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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_2040delACA",
"hgvs_p": "p.Thr680del",
"transcript": "ENST00000886449.1",
"protein_id": "ENSP00000556508.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 782,
"cds_start": 2038,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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_2022delACA",
"hgvs_p": "p.Thr674del",
"transcript": "ENST00000968036.1",
"protein_id": "ENSP00000638095.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 776,
"cds_start": 2020,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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_2019delACA",
"hgvs_p": "p.Thr673del",
"transcript": "ENST00000886450.1",
"protein_id": "ENSP00000556510.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 775,
"cds_start": 2017,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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_2019delACA",
"hgvs_p": "p.Thr673del",
"transcript": "ENST00000968037.1",
"protein_id": "ENSP00000638096.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 775,
"cds_start": 2017,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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_2016delACA",
"hgvs_p": "p.Thr672del",
"transcript": "ENST00000886452.1",
"protein_id": "ENSP00000556511.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 774,
"cds_start": 2014,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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_2016delACA",
"hgvs_p": "p.Thr672del",
"transcript": "ENST00000886458.1",
"protein_id": "ENSP00000556517.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 774,
"cds_start": 2014,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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_2013delACA",
"hgvs_p": "p.Thr671del",
"transcript": "ENST00000968035.1",
"protein_id": "ENSP00000638094.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 773,
"cds_start": 2011,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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_2001delACA",
"hgvs_p": "p.Thr667del",
"transcript": "NM_001128617.3",
"protein_id": "NP_001122089.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 769,
"cds_start": 1999,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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_2001delACA",
"hgvs_p": "p.Thr667del",
"transcript": "ENST00000367663.8",
"protein_id": "ENSP00000356635.4",
"transcript_support_level": 5,
"aa_start": 667,
"aa_end": null,
"aa_length": 769,
"cds_start": 1999,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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_1992delACA",
"hgvs_p": "p.Thr664del",
"transcript": "ENST00000886462.1",
"protein_id": "ENSP00000556521.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 766,
"cds_start": 1990,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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.1972_1974delACA",
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"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 8.79,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM4_Supporting",
"acmg_by_gene": [
{
"score": 1,
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"pathogenic_score": 1,
"criteria": [
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],
"verdict": "Uncertain_significance",
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"gene_symbol": "REPS1",
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"effects": [
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"inheritance_mode": "Unknown",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}