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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: 6-169222395-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=169222395&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "THBS2",
"hgnc_id": 11786,
"hgvs_c": "c.3075C>T",
"hgvs_p": "p.Ala1025Ala",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -14,
"transcript": "NM_003247.5",
"verdict": "Benign"
},
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "THBS2-AS1",
"hgnc_id": 56059,
"hgvs_c": "n.739+7908G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -13,
"transcript": "ENST00000444188.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BA1",
"acmg_score": -14,
"allele_count_reference_population": 317131,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.88,
"chr": "6",
"clinvar_classification": "Benign",
"clinvar_disease": "THBS2-related disorder",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8799999952316284,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1172,
"aa_ref": "A",
"aa_start": 1025,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5701,
"cdna_start": 3220,
"cds_end": null,
"cds_length": 3519,
"cds_start": 3075,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_003247.5",
"gene_hgnc_id": 11786,
"gene_symbol": "THBS2",
"hgvs_c": "c.3075C>T",
"hgvs_p": "p.Ala1025Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000617924.6",
"protein_coding": true,
"protein_id": "NP_003238.2",
"strand": false,
"transcript": "NM_003247.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1172,
"aa_ref": "A",
"aa_start": 1025,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5701,
"cdna_start": 3220,
"cds_end": null,
"cds_length": 3519,
"cds_start": 3075,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000617924.6",
"gene_hgnc_id": 11786,
"gene_symbol": "THBS2",
"hgvs_c": "c.3075C>T",
"hgvs_p": "p.Ala1025Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003247.5",
"protein_coding": true,
"protein_id": "ENSP00000482784.1",
"strand": false,
"transcript": "ENST00000617924.6",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1172,
"aa_ref": "A",
"aa_start": 1025,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5811,
"cdna_start": 3325,
"cds_end": null,
"cds_length": 3519,
"cds_start": 3075,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000366787.7",
"gene_hgnc_id": 11786,
"gene_symbol": "THBS2",
"hgvs_c": "c.3075C>T",
"hgvs_p": "p.Ala1025Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355751.3",
"strand": false,
"transcript": "ENST00000366787.7",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1177,
"aa_ref": "A",
"aa_start": 1030,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5699,
"cdna_start": 3227,
"cds_end": null,
"cds_length": 3534,
"cds_start": 3090,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000649844.1",
"gene_hgnc_id": 11786,
"gene_symbol": "THBS2",
"hgvs_c": "c.3090C>T",
"hgvs_p": "p.Ala1030Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497834.1",
"strand": false,
"transcript": "ENST00000649844.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1172,
"aa_ref": "A",
"aa_start": 1025,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5653,
"cdna_start": 3184,
"cds_end": null,
"cds_length": 3519,
"cds_start": 3075,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000676498.1",
"gene_hgnc_id": 11786,
"gene_symbol": "THBS2",
"hgvs_c": "c.3075C>T",
"hgvs_p": "p.Ala1025Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504820.1",
"strand": false,
"transcript": "ENST00000676498.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1172,
"aa_ref": "A",
"aa_start": 1025,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5621,
"cdna_start": 3151,
"cds_end": null,
"cds_length": 3519,
"cds_start": 3075,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000676760.1",
"gene_hgnc_id": 11786,
"gene_symbol": "THBS2",
"hgvs_c": "c.3075C>T",
"hgvs_p": "p.Ala1025Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503020.1",
"strand": false,
"transcript": "ENST00000676760.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1172,
"aa_ref": "A",
"aa_start": 1025,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4098,
"cdna_start": 3246,
"cds_end": null,
"cds_length": 3519,
"cds_start": 3075,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000906005.1",
"gene_hgnc_id": 11786,
"gene_symbol": "THBS2",
"hgvs_c": "c.3075C>T",
"hgvs_p": "p.Ala1025Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576064.1",
"strand": false,
"transcript": "ENST00000906005.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1172,
"aa_ref": "A",
"aa_start": 1025,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5698,
"cdna_start": 3218,
"cds_end": null,
"cds_length": 3519,
"cds_start": 3075,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000969636.1",
"gene_hgnc_id": 11786,
"gene_symbol": "THBS2",
"hgvs_c": "c.3075C>T",
"hgvs_p": "p.Ala1025Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639695.1",
"strand": false,
"transcript": "ENST00000969636.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1172,
"aa_ref": "A",
"aa_start": 1025,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5400,
"cdna_start": 3212,
"cds_end": null,
"cds_length": 3519,
"cds_start": 3075,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000969639.1",
"gene_hgnc_id": 11786,
"gene_symbol": "THBS2",
"hgvs_c": "c.3075C>T",
"hgvs_p": "p.Ala1025Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639698.1",
"strand": false,
"transcript": "ENST00000969639.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1161,
"aa_ref": "A",
"aa_start": 1014,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5383,
"cdna_start": 3187,
"cds_end": null,
"cds_length": 3486,
"cds_start": 3042,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000969637.1",
"gene_hgnc_id": 11786,
"gene_symbol": "THBS2",
"hgvs_c": "c.3042C>T",
"hgvs_p": "p.Ala1014Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639696.1",
"strand": false,
"transcript": "ENST00000969637.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1154,
"aa_ref": "A",
"aa_start": 1007,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5647,
"cdna_start": 3166,
"cds_end": null,
"cds_length": 3465,
"cds_start": 3021,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000927081.1",
"gene_hgnc_id": 11786,
"gene_symbol": "THBS2",
"hgvs_c": "c.3021C>T",
"hgvs_p": "p.Ala1007Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597140.1",
"strand": false,
"transcript": "ENST00000927081.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1125,
"aa_ref": "A",
"aa_start": 978,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5679,
"cdna_start": 3200,
"cds_end": null,
"cds_length": 3378,
"cds_start": 2934,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000927078.1",
"gene_hgnc_id": 11786,
"gene_symbol": "THBS2",
"hgvs_c": "c.2934C>T",
"hgvs_p": "p.Ala978Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597137.1",
"strand": false,
"transcript": "ENST00000927078.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1125,
"aa_ref": "A",
"aa_start": 978,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5729,
"cdna_start": 3248,
"cds_end": null,
"cds_length": 3378,
"cds_start": 2934,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000927079.1",
"gene_hgnc_id": 11786,
"gene_symbol": "THBS2",
"hgvs_c": "c.2934C>T",
"hgvs_p": "p.Ala978Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597138.1",
"strand": false,
"transcript": "ENST00000927079.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1125,
"aa_ref": "A",
"aa_start": 1025,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5608,
"cdna_start": 3270,
"cds_end": null,
"cds_length": 3378,
"cds_start": 3075,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000927080.1",
"gene_hgnc_id": 11786,
"gene_symbol": "THBS2",
"hgvs_c": "c.3075C>T",
"hgvs_p": "p.Ala1025Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597139.1",
"strand": false,
"transcript": "ENST00000927080.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "A",
"aa_start": 968,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5140,
"cdna_start": 2964,
"cds_end": null,
"cds_length": 3348,
"cds_start": 2904,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000676869.1",
"gene_hgnc_id": 11786,
"gene_symbol": "THBS2",
"hgvs_c": "c.2904C>T",
"hgvs_p": "p.Ala968Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504488.1",
"strand": false,
"transcript": "ENST00000676869.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "A",
"aa_start": 968,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5530,
"cdna_start": 3050,
"cds_end": null,
"cds_length": 3348,
"cds_start": 2904,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000969635.1",
"gene_hgnc_id": 11786,
"gene_symbol": "THBS2",
"hgvs_c": "c.2904C>T",
"hgvs_p": "p.Ala968Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639694.1",
"strand": false,
"transcript": "ENST00000969635.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1114,
"aa_ref": "A",
"aa_start": 967,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5527,
"cdna_start": 3046,
"cds_end": null,
"cds_length": 3345,
"cds_start": 2901,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001381939.1",
"gene_hgnc_id": 11786,
"gene_symbol": "THBS2",
"hgvs_c": "c.2901C>T",
"hgvs_p": "p.Ala967Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001368868.1",
"strand": false,
"transcript": "NM_001381939.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1114,
"aa_ref": "A",
"aa_start": 967,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5635,
"cdna_start": 3157,
"cds_end": null,
"cds_length": 3345,
"cds_start": 2901,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000676628.1",
"gene_hgnc_id": 11786,
"gene_symbol": "THBS2",
"hgvs_c": "c.2901C>T",
"hgvs_p": "p.Ala967Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504416.1",
"strand": false,
"transcript": "ENST00000676628.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1114,
"aa_ref": "A",
"aa_start": 967,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5701,
"cdna_start": 3221,
"cds_end": null,
"cds_length": 3345,
"cds_start": 2901,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000906004.1",
"gene_hgnc_id": 11786,
"gene_symbol": "THBS2",
"hgvs_c": "c.2901C>T",
"hgvs_p": "p.Ala967Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576063.1",
"strand": false,
"transcript": "ENST00000906004.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1095,
"aa_ref": "A",
"aa_start": 948,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6129,
"cdna_start": 3648,
"cds_end": null,
"cds_length": 3288,
"cds_start": 2844,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001381942.1",
"gene_hgnc_id": 11786,
"gene_symbol": "THBS2",
"hgvs_c": "c.2844C>T",
"hgvs_p": "p.Ala948Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001368871.1",
"strand": false,
"transcript": "NM_001381942.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
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