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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: 12-130537465-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=130537465&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "RIMBP2",
"hgnc_id": 30339,
"hgvs_c": "c.-216-19548T>C",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001393629.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.88,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8799999952316284,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1362,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5746,
"cdna_start": null,
"cds_end": null,
"cds_length": 4089,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001393629.1",
"gene_hgnc_id": 30339,
"gene_symbol": "RIMBP2",
"hgvs_c": "c.-216-19548T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000690449.1",
"protein_coding": true,
"protein_id": "NP_001380558.1",
"strand": false,
"transcript": "NM_001393629.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1362,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5746,
"cdna_start": null,
"cds_end": null,
"cds_length": 4089,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000690449.1",
"gene_hgnc_id": 30339,
"gene_symbol": "RIMBP2",
"hgvs_c": "c.-216-19548T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001393629.1",
"protein_coding": true,
"protein_id": "ENSP00000509157.1",
"strand": false,
"transcript": "ENST00000690449.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1362,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5594,
"cdna_start": null,
"cds_end": null,
"cds_length": 4089,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000643940.1",
"gene_hgnc_id": 30339,
"gene_symbol": "RIMBP2",
"hgvs_c": "c.-126-30695T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495590.1",
"strand": false,
"transcript": "ENST00000643940.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1362,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5684,
"cdna_start": null,
"cds_end": null,
"cds_length": 4089,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000691977.1",
"gene_hgnc_id": 30339,
"gene_symbol": "RIMBP2",
"hgvs_c": "c.-126-30695T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510638.1",
"strand": false,
"transcript": "ENST00000691977.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1308,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7358,
"cdna_start": null,
"cds_end": null,
"cds_length": 3927,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001393614.1",
"gene_hgnc_id": 30339,
"gene_symbol": "RIMBP2",
"hgvs_c": "c.-216-19548T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380543.1",
"strand": false,
"transcript": "NM_001393614.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1305,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7823,
"cdna_start": null,
"cds_end": null,
"cds_length": 3918,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001393615.1",
"gene_hgnc_id": 30339,
"gene_symbol": "RIMBP2",
"hgvs_c": "c.-126-30695T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380544.1",
"strand": false,
"transcript": "NM_001393615.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1305,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7785,
"cdna_start": null,
"cds_end": null,
"cds_length": 3918,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001393616.1",
"gene_hgnc_id": 30339,
"gene_symbol": "RIMBP2",
"hgvs_c": "c.-126-30695T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380545.1",
"strand": false,
"transcript": "NM_001393616.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1305,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7875,
"cdna_start": null,
"cds_end": null,
"cds_length": 3918,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001393617.1",
"gene_hgnc_id": 30339,
"gene_symbol": "RIMBP2",
"hgvs_c": "c.-216-19548T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380546.1",
"strand": false,
"transcript": "NM_001393617.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1305,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4985,
"cdna_start": null,
"cds_end": null,
"cds_length": 3918,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000689851.1",
"gene_hgnc_id": 30339,
"gene_symbol": "RIMBP2",
"hgvs_c": "c.-216-19548T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510770.1",
"strand": false,
"transcript": "ENST00000689851.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 1123,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5029,
"cdna_start": null,
"cds_end": null,
"cds_length": 3372,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001351226.2",
"gene_hgnc_id": 30339,
"gene_symbol": "RIMBP2",
"hgvs_c": "c.-216-19548T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338155.1",
"strand": false,
"transcript": "NM_001351226.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4939,
"cdna_start": null,
"cds_end": null,
"cds_length": 3372,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001351227.2",
"gene_hgnc_id": 30339,
"gene_symbol": "RIMBP2",
"hgvs_c": "c.-126-30695T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338156.1",
"strand": false,
"transcript": "NM_001351227.2",
"transcript_support_level": null
},
{
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"aa_length": 1123,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 22,
"exon_rank": null,
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"feature": "NM_001351228.2",
"gene_hgnc_id": 30339,
"gene_symbol": "RIMBP2",
"hgvs_c": "c.-216-19548T>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001338157.1",
"strand": false,
"transcript": "NM_001351228.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 21,
"exon_rank": null,
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"feature": "NM_001393618.1",
"gene_hgnc_id": 30339,
"gene_symbol": "RIMBP2",
"hgvs_c": "c.-126-30695T>C",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380547.1",
"strand": false,
"transcript": "NM_001393618.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5056,
"cdna_start": null,
"cds_end": null,
"cds_length": 3372,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001393619.1",
"gene_hgnc_id": 30339,
"gene_symbol": "RIMBP2",
"hgvs_c": "c.-216-19548T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380548.1",
"strand": false,
"transcript": "NM_001393619.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cds_end": null,
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"consequences": [
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],
"exon_count": 22,
"exon_rank": null,
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"feature": "ENST00000690669.1",
"gene_hgnc_id": 30339,
"gene_symbol": "RIMBP2",
"hgvs_c": "c.-216-19548T>C",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510530.1",
"strand": false,
"transcript": "ENST00000690669.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4979,
"cdna_start": null,
"cds_end": null,
"cds_length": 3372,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000908656.1",
"gene_hgnc_id": 30339,
"gene_symbol": "RIMBP2",
"hgvs_c": "c.-126-30695T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578715.1",
"strand": false,
"transcript": "ENST00000908656.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5090,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000908657.1",
"gene_hgnc_id": 30339,
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"hgvs_c": "c.-216-19548T>C",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000578716.1",
"strand": false,
"transcript": "ENST00000908657.1",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 21,
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"feature": "ENST00000964722.1",
"gene_hgnc_id": 30339,
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"hgvs_c": "c.-126-30695T>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000634781.1",
"strand": false,
"transcript": "ENST00000964722.1",
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},
{
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"cds_end": null,
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"consequences": [
"intron_variant"
],
"exon_count": 21,
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"feature": "ENST00000964721.1",
"gene_hgnc_id": 30339,
"gene_symbol": "RIMBP2",
"hgvs_c": "c.-216-19548T>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000634780.1",
"strand": false,
"transcript": "ENST00000964721.1",
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},
{
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"cdna_start": null,
"cds_end": null,
"cds_length": 3210,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001351229.2",
"gene_hgnc_id": 30339,
"gene_symbol": "RIMBP2",
"hgvs_c": "c.-216-19548T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338158.1",
"strand": false,
"transcript": "NM_001351229.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6641,
"cdna_start": null,
"cds_end": null,
"cds_length": 3210,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001351230.2",
"gene_hgnc_id": 30339,
"gene_symbol": "RIMBP2",
"hgvs_c": "c.-216-19548T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338159.1",
"strand": false,
"transcript": "NM_001351230.2",
"transcript_support_level": null
},
{
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