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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: 17-79094499-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=79094499&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "RBFOX3",
"hgnc_id": 27097,
"hgvs_c": "c.1029G>T",
"hgvs_p": "p.Pro343Pro",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_001385804.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_score": -1,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.31,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.3100000023841858,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 359,
"aa_ref": "P",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3163,
"cdna_start": 1574,
"cds_end": null,
"cds_length": 1080,
"cds_start": 1029,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001350451.2",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.1029G>T",
"hgvs_p": "p.Pro343Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000693108.1",
"protein_coding": true,
"protein_id": "NP_001337380.1",
"strand": false,
"transcript": "NM_001350451.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 359,
"aa_ref": "P",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3163,
"cdna_start": 1574,
"cds_end": null,
"cds_length": 1080,
"cds_start": 1029,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000693108.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.1029G>T",
"hgvs_p": "p.Pro343Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001350451.2",
"protein_coding": true,
"protein_id": "ENSP00000510395.1",
"strand": false,
"transcript": "ENST00000693108.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 391,
"aa_ref": "P",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1831,
"cdna_start": 1722,
"cds_end": null,
"cds_length": 1176,
"cds_start": 1125,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000857749.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.1125G>T",
"hgvs_p": "p.Pro375Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527808.1",
"strand": false,
"transcript": "ENST00000857749.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 373,
"aa_ref": "P",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2317,
"cdna_start": 1574,
"cds_end": null,
"cds_length": 1122,
"cds_start": 1029,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001385804.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.1029G>T",
"hgvs_p": "p.Pro343Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372733.1",
"strand": false,
"transcript": "NM_001385804.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 373,
"aa_ref": "P",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2337,
"cdna_start": 1594,
"cds_end": null,
"cds_length": 1122,
"cds_start": 1029,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001385805.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.1029G>T",
"hgvs_p": "p.Pro343Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372734.1",
"strand": false,
"transcript": "NM_001385805.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 372,
"aa_ref": "P",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2314,
"cdna_start": 1571,
"cds_end": null,
"cds_length": 1119,
"cds_start": 1026,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001385806.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.1026G>T",
"hgvs_p": "p.Pro342Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372735.1",
"strand": false,
"transcript": "NM_001385806.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 359,
"aa_ref": "P",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3408,
"cdna_start": 1819,
"cds_end": null,
"cds_length": 1080,
"cds_start": 1029,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001385807.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.1029G>T",
"hgvs_p": "p.Pro343Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372736.1",
"strand": false,
"transcript": "NM_001385807.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 359,
"aa_ref": "P",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3332,
"cdna_start": 1743,
"cds_end": null,
"cds_length": 1080,
"cds_start": 1029,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001385808.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.1029G>T",
"hgvs_p": "p.Pro343Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372737.1",
"strand": false,
"transcript": "NM_001385808.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 359,
"aa_ref": "P",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3232,
"cdna_start": 1643,
"cds_end": null,
"cds_length": 1080,
"cds_start": 1029,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001385809.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.1029G>T",
"hgvs_p": "p.Pro343Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372738.1",
"strand": false,
"transcript": "NM_001385809.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 359,
"aa_ref": "P",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2990,
"cdna_start": 1401,
"cds_end": null,
"cds_length": 1080,
"cds_start": 1029,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001385810.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.1029G>T",
"hgvs_p": "p.Pro343Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372739.1",
"strand": false,
"transcript": "NM_001385810.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 359,
"aa_ref": "P",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3834,
"cdna_start": 2245,
"cds_end": null,
"cds_length": 1080,
"cds_start": 1029,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001385811.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.1029G>T",
"hgvs_p": "p.Pro343Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372740.1",
"strand": false,
"transcript": "NM_001385811.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 359,
"aa_ref": "P",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3794,
"cdna_start": 2205,
"cds_end": null,
"cds_length": 1080,
"cds_start": 1029,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001385812.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.1029G>T",
"hgvs_p": "p.Pro343Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372741.1",
"strand": false,
"transcript": "NM_001385812.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 359,
"aa_ref": "P",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3352,
"cdna_start": 1763,
"cds_end": null,
"cds_length": 1080,
"cds_start": 1029,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001385813.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.1029G>T",
"hgvs_p": "p.Pro343Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372742.1",
"strand": false,
"transcript": "NM_001385813.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 359,
"aa_ref": "P",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3123,
"cdna_start": 1534,
"cds_end": null,
"cds_length": 1080,
"cds_start": 1029,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001385814.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.1029G>T",
"hgvs_p": "p.Pro343Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372743.1",
"strand": false,
"transcript": "NM_001385814.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 359,
"aa_ref": "P",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3295,
"cdna_start": 1706,
"cds_end": null,
"cds_length": 1080,
"cds_start": 1029,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001385815.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.1029G>T",
"hgvs_p": "p.Pro343Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372744.1",
"strand": false,
"transcript": "NM_001385815.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 359,
"aa_ref": "P",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3432,
"cdna_start": 1843,
"cds_end": null,
"cds_length": 1080,
"cds_start": 1029,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001385816.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.1029G>T",
"hgvs_p": "p.Pro343Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372745.1",
"strand": false,
"transcript": "NM_001385816.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 359,
"aa_ref": "P",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3160,
"cdna_start": 1571,
"cds_end": null,
"cds_length": 1080,
"cds_start": 1029,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001385817.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.1029G>T",
"hgvs_p": "p.Pro343Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372746.1",
"strand": false,
"transcript": "NM_001385817.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 359,
"aa_ref": "P",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3234,
"cdna_start": 1645,
"cds_end": null,
"cds_length": 1080,
"cds_start": 1029,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001385818.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.1029G>T",
"hgvs_p": "p.Pro343Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372747.1",
"strand": false,
"transcript": "NM_001385818.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 359,
"aa_ref": "P",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3236,
"cdna_start": 1647,
"cds_end": null,
"cds_length": 1080,
"cds_start": 1029,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001385819.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.1029G>T",
"hgvs_p": "p.Pro343Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372748.1",
"strand": false,
"transcript": "NM_001385819.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 359,
"aa_ref": "P",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3298,
"cdna_start": 1709,
"cds_end": null,
"cds_length": 1080,
"cds_start": 1029,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001385820.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.1029G>T",
"hgvs_p": "p.Pro343Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372749.1",
"strand": false,
"transcript": "NM_001385820.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 359,
"aa_ref": "P",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3399,
"cdna_start": 1810,
"cds_end": null,
"cds_length": 1080,
"cds_start": 1029,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001385821.1",
"gene_hgnc_id": 27097,
"gene_symbol": "RBFOX3",
"hgvs_c": "c.1029G>T",
"hgvs_p": "p.Pro343Pro",
"intron_rank": null,
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