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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: 15-22963861-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=22963861&ref=G&alt=C&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": "CYFIP1",
"hgnc_id": 13759,
"hgvs_c": "c.97-16570C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001324119.2",
"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": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.93,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9300000071525574,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1253,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6826,
"cdna_start": null,
"cds_end": null,
"cds_length": 3762,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014608.6",
"gene_hgnc_id": 13759,
"gene_symbol": "CYFIP1",
"hgvs_c": "c.-7+16426C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000617928.5",
"protein_coding": true,
"protein_id": "NP_055423.1",
"strand": false,
"transcript": "NM_014608.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1253,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6826,
"cdna_start": null,
"cds_end": null,
"cds_length": 3762,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000617928.5",
"gene_hgnc_id": 13759,
"gene_symbol": "CYFIP1",
"hgvs_c": "c.-7+16426C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014608.6",
"protein_coding": true,
"protein_id": "ENSP00000481038.1",
"strand": false,
"transcript": "ENST00000617928.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1253,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4515,
"cdna_start": null,
"cds_end": null,
"cds_length": 3762,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000610365.4",
"gene_hgnc_id": 13759,
"gene_symbol": "CYFIP1",
"hgvs_c": "c.-125-15832C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478779.1",
"strand": false,
"transcript": "ENST00000610365.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1287,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6847,
"cdna_start": null,
"cds_end": null,
"cds_length": 3864,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001324119.2",
"gene_hgnc_id": 13759,
"gene_symbol": "CYFIP1",
"hgvs_c": "c.97-16570C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311048.1",
"strand": false,
"transcript": "NM_001324119.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1268,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4480,
"cdna_start": null,
"cds_end": null,
"cds_length": 3807,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000900867.1",
"gene_hgnc_id": 13759,
"gene_symbol": "CYFIP1",
"hgvs_c": "c.-29+16426C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570926.1",
"strand": false,
"transcript": "ENST00000900867.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1268,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4433,
"cdna_start": null,
"cds_end": null,
"cds_length": 3807,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945410.1",
"gene_hgnc_id": 13759,
"gene_symbol": "CYFIP1",
"hgvs_c": "c.-7+16426C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615469.1",
"strand": false,
"transcript": "ENST00000945410.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1253,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6945,
"cdna_start": null,
"cds_end": null,
"cds_length": 3762,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001287810.4",
"gene_hgnc_id": 13759,
"gene_symbol": "CYFIP1",
"hgvs_c": "c.-125-15832C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274739.1",
"strand": false,
"transcript": "NM_001287810.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1253,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7026,
"cdna_start": null,
"cds_end": null,
"cds_length": 3762,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001324120.2",
"gene_hgnc_id": 13759,
"gene_symbol": "CYFIP1",
"hgvs_c": "c.-6-16570C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311049.1",
"strand": false,
"transcript": "NM_001324120.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1253,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6853,
"cdna_start": null,
"cds_end": null,
"cds_length": 3762,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001324123.3",
"gene_hgnc_id": 13759,
"gene_symbol": "CYFIP1",
"hgvs_c": "c.-34+16426C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311052.1",
"strand": false,
"transcript": "NM_001324123.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1253,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4578,
"cdna_start": null,
"cds_end": null,
"cds_length": 3762,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000900858.1",
"gene_hgnc_id": 13759,
"gene_symbol": "CYFIP1",
"hgvs_c": "c.-6-16570C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570917.1",
"strand": false,
"transcript": "ENST00000900858.1",
"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": 4612,
"cdna_start": null,
"cds_end": null,
"cds_length": 3762,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000900859.1",
"gene_hgnc_id": 13759,
"gene_symbol": "CYFIP1",
"hgvs_c": "c.-6-16570C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570918.1",
"strand": false,
"transcript": "ENST00000900859.1",
"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": 4444,
"cdna_start": null,
"cds_end": null,
"cds_length": 3762,
"cds_start": null,
"consequences": [
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],
"exon_count": 31,
"exon_rank": null,
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"feature": "ENST00000900861.1",
"gene_hgnc_id": 13759,
"gene_symbol": "CYFIP1",
"hgvs_c": "c.-2+16426C>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570920.1",
"strand": false,
"transcript": "ENST00000900861.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 31,
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"feature": "ENST00000900871.1",
"gene_hgnc_id": 13759,
"gene_symbol": "CYFIP1",
"hgvs_c": "c.-7+9514C>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000570930.1",
"strand": false,
"transcript": "ENST00000900871.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4494,
"cdna_start": null,
"cds_end": null,
"cds_length": 3762,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000919971.1",
"gene_hgnc_id": 13759,
"gene_symbol": "CYFIP1",
"hgvs_c": "c.-33-16543C>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000590030.1",
"strand": false,
"transcript": "ENST00000919971.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 32,
"exon_rank": null,
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"feature": "ENST00000919972.1",
"gene_hgnc_id": 13759,
"gene_symbol": "CYFIP1",
"hgvs_c": "c.-141-5011C>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590031.1",
"strand": false,
"transcript": "ENST00000919972.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000919973.1",
"gene_hgnc_id": 13759,
"gene_symbol": "CYFIP1",
"hgvs_c": "c.-29+16426C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000590032.1",
"strand": false,
"transcript": "ENST00000919973.1",
"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": 4642,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945411.1",
"gene_hgnc_id": 13759,
"gene_symbol": "CYFIP1",
"hgvs_c": "c.-7+16023C>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000615470.1",
"strand": false,
"transcript": "ENST00000945411.1",
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},
{
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"cdna_length": 4492,
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"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
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"feature": "ENST00000945412.1",
"gene_hgnc_id": 13759,
"gene_symbol": "CYFIP1",
"hgvs_c": "c.-7+15798C>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000615471.1",
"strand": false,
"transcript": "ENST00000945412.1",
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},
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 31,
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"feature": "ENST00000945413.1",
"gene_hgnc_id": 13759,
"gene_symbol": "CYFIP1",
"hgvs_c": "c.-7+15324C>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000615472.1",
"strand": false,
"transcript": "ENST00000945413.1",
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},
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"biotype": "protein_coding",
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"cds_end": null,
"cds_length": 3753,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000900865.1",
"gene_hgnc_id": 13759,
"gene_symbol": "CYFIP1",
"hgvs_c": "c.-7+16426C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570924.1",
"strand": false,
"transcript": "ENST00000900865.1",
"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": 4358,
"cdna_start": null,
"cds_end": null,
"cds_length": 3684,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000900862.1",
"gene_hgnc_id": 13759,
"gene_symbol": "CYFIP1",
"hgvs_c": "c.-7+16426C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570921.1",
"strand": false,
"transcript": "ENST00000900862.1",
"transcript_support_level": null
},
{
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