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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: 14-95099805-G-GTGT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=95099805&ref=G&alt=GTGT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 95099805,
"ref": "G",
"alt": "GTGT",
"effect": "conservative_inframe_insertion",
"transcript": "ENST00000343455.8",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "NT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4178_4180dupACA",
"hgvs_p": "p.Asn1393dup",
"transcript": "NM_177438.3",
"protein_id": "NP_803187.1",
"transcript_support_level": null,
"aa_start": 1394,
"aa_end": null,
"aa_length": 1922,
"cds_start": 4180,
"cds_end": null,
"cds_length": 5769,
"cdna_start": 4525,
"cdna_end": null,
"cdna_length": 10384,
"mane_select": "ENST00000343455.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "NT",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4178_4180dupACA",
"hgvs_p": "p.Asn1393dup",
"transcript": "ENST00000343455.8",
"protein_id": "ENSP00000343745.3",
"transcript_support_level": 1,
"aa_start": 1394,
"aa_end": null,
"aa_length": 1922,
"cds_start": 4180,
"cds_end": null,
"cds_length": 5769,
"cdna_start": 4525,
"cdna_end": null,
"cdna_length": 10384,
"mane_select": "NM_177438.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "NT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4178_4180dupACA",
"hgvs_p": "p.Asn1393dup",
"transcript": "ENST00000393063.6",
"protein_id": "ENSP00000376783.1",
"transcript_support_level": 1,
"aa_start": 1394,
"aa_end": null,
"aa_length": 1922,
"cds_start": 4180,
"cds_end": null,
"cds_length": 5769,
"cdna_start": 4583,
"cdna_end": null,
"cdna_length": 7423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "NT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4178_4180dupACA",
"hgvs_p": "p.Asn1393dup",
"transcript": "ENST00000527414.5",
"protein_id": "ENSP00000435681.1",
"transcript_support_level": 1,
"aa_start": 1394,
"aa_end": null,
"aa_length": 1922,
"cds_start": 4180,
"cds_end": null,
"cds_length": 5769,
"cdna_start": 4413,
"cdna_end": null,
"cdna_length": 6179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "NT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4178_4180dupACA",
"hgvs_p": "p.Asn1393dup",
"transcript": "ENST00000529720.2",
"protein_id": "ENSP00000433926.2",
"transcript_support_level": 1,
"aa_start": 1394,
"aa_end": null,
"aa_length": 1922,
"cds_start": 4180,
"cds_end": null,
"cds_length": 5769,
"cdna_start": 4515,
"cdna_end": null,
"cdna_length": 10374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "NT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4178_4180dupACA",
"hgvs_p": "p.Asn1393dup",
"transcript": "ENST00000531162.7",
"protein_id": "ENSP00000433060.3",
"transcript_support_level": 1,
"aa_start": 1394,
"aa_end": null,
"aa_length": 1922,
"cds_start": 4180,
"cds_end": null,
"cds_length": 5769,
"cdna_start": 4609,
"cdna_end": null,
"cdna_length": 10453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "NT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4178_4180dupACA",
"hgvs_p": "p.Asn1393dup",
"transcript": "ENST00000541352.5",
"protein_id": "ENSP00000444719.1",
"transcript_support_level": 1,
"aa_start": 1394,
"aa_end": null,
"aa_length": 1829,
"cds_start": 4180,
"cds_end": null,
"cds_length": 5490,
"cdna_start": 4189,
"cdna_end": null,
"cdna_length": 5621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "NT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4178_4180dupACA",
"hgvs_p": "p.Asn1393dup",
"transcript": "NM_001271282.3",
"protein_id": "NP_001258211.1",
"transcript_support_level": null,
"aa_start": 1394,
"aa_end": null,
"aa_length": 1922,
"cds_start": 4180,
"cds_end": null,
"cds_length": 5769,
"cdna_start": 4404,
"cdna_end": null,
"cdna_length": 10263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "NT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4178_4180dupACA",
"hgvs_p": "p.Asn1393dup",
"transcript": "NM_001291628.2",
"protein_id": "NP_001278557.1",
"transcript_support_level": null,
"aa_start": 1394,
"aa_end": null,
"aa_length": 1922,
"cds_start": 4180,
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"cdna_start": 4301,
"cdna_end": null,
"cdna_length": 10160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "NT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4178_4180dupACA",
"hgvs_p": "p.Asn1393dup",
"transcript": "NM_001395677.1",
"protein_id": "NP_001382606.1",
"transcript_support_level": null,
"aa_start": 1394,
"aa_end": null,
"aa_length": 1922,
"cds_start": 4180,
"cds_end": null,
"cds_length": 5769,
"cdna_start": 4575,
"cdna_end": null,
"cdna_length": 10434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "NT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4178_4180dupACA",
"hgvs_p": "p.Asn1393dup",
"transcript": "NM_001395678.1",
"protein_id": "NP_001382607.1",
"transcript_support_level": null,
"aa_start": 1394,
"aa_end": null,
"aa_length": 1922,
"cds_start": 4180,
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"cdna_start": 4364,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4178_4180dupACA",
"hgvs_p": "p.Asn1393dup",
"transcript": "NM_001395679.1",
"protein_id": "NP_001382608.1",
"transcript_support_level": null,
"aa_start": 1394,
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"aa_length": 1922,
"cds_start": 4180,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
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"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4178_4180dupACA",
"hgvs_p": "p.Asn1393dup",
"transcript": "NM_001395680.1",
"protein_id": "NP_001382609.1",
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"cdna_start": 4531,
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "DICER1",
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"transcript": "NM_001395682.1",
"protein_id": "NP_001382611.1",
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"feature": null
},
{
"aa_ref": "T",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4178_4180dupACA",
"hgvs_p": "p.Asn1393dup",
"transcript": "NM_001395683.1",
"protein_id": "NP_001382612.1",
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},
{
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"protein_coding": true,
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],
"exon_rank": 23,
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"gene_symbol": "DICER1",
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"hgvs_c": "c.4178_4180dupACA",
"hgvs_p": "p.Asn1393dup",
"transcript": "NM_001395684.1",
"protein_id": "NP_001382613.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
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"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4178_4180dupACA",
"hgvs_p": "p.Asn1393dup",
"transcript": "NM_030621.4",
"protein_id": "NP_085124.2",
"transcript_support_level": null,
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"aa_end": null,
"aa_length": 1922,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
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"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4178_4180dupACA",
"hgvs_p": "p.Asn1393dup",
"transcript": "ENST00000526495.6",
"protein_id": "ENSP00000437256.1",
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},
{
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],
"exon_rank": 25,
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"gene_symbol": "DICER1",
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"hgvs_c": "c.4178_4180dupACA",
"hgvs_p": "p.Asn1393dup",
"transcript": "ENST00000674628.2",
"protein_id": "ENSP00000502730.2",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4178_4180dupACA",
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"transcript": "ENST00000696736.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4178_4180dupACA",
"hgvs_p": "p.Asn1393dup",
"transcript": "NM_001195573.1",
"protein_id": "NP_001182502.1",
"transcript_support_level": null,
"aa_start": 1394,
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"aa_length": 1829,
"cds_start": 4180,
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"cdna_start": 4225,
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"cdna_length": 9921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.3896_3898dupACA",
"hgvs_p": "p.Asn1299dup",
"transcript": "NM_001395686.1",
"protein_id": "NP_001382615.1",
"transcript_support_level": null,
"aa_start": 1300,
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"cds_start": 3898,
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"cdna_start": 4517,
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],
"gene_symbol": "DICER1",
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"dbsnp": "rs878855263",
"frequency_reference_population": 0.000010540139,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.00000957874,
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"gnomad_exomes_homalt": 0,
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"splice_score_selected": null,
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"revel_score": null,
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.571,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
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"apogee2_score": null,
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"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2,PM4_Supporting",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
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"PM4_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000343455.8",
"gene_symbol": "DICER1",
"hgnc_id": 17098,
"effects": [
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],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.4178_4180dupACA",
"hgvs_p": "p.Asn1393dup"
}
],
"clinvar_disease": "DICER1-related disorder,DICER1-related tumor predisposition,Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome,Hereditary cancer-predisposing syndrome,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "US:4 LB:2 B:1",
"phenotype_combined": "DICER1-related tumor predisposition|Hereditary cancer-predisposing syndrome|DICER1-related disorder|Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}