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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: 14-95103706-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=95103706&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"PM2",
"BP4_Strong",
"BP6",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "DICER1",
"hgnc_id": 17098,
"hgvs_c": "c.3690G>A",
"hgvs_p": "p.Gln1230Gln",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 2,
"score": -4,
"transcript": "NM_030621.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6,BP7",
"acmg_score": -4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"chr": "14",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "DICER1-related tumor predisposition,Hereditary cancer-predisposing syndrome",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4699999988079071,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1922,
"aa_ref": "Q",
"aa_start": 1230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10384,
"cdna_start": 4035,
"cds_end": null,
"cds_length": 5769,
"cds_start": 3690,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_177438.3",
"gene_hgnc_id": 17098,
"gene_symbol": "DICER1",
"hgvs_c": "c.3690G>A",
"hgvs_p": "p.Gln1230Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000343455.8",
"protein_coding": true,
"protein_id": "NP_803187.1",
"strand": false,
"transcript": "NM_177438.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1922,
"aa_ref": "Q",
"aa_start": 1230,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10384,
"cdna_start": 4035,
"cds_end": null,
"cds_length": 5769,
"cds_start": 3690,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000343455.8",
"gene_hgnc_id": 17098,
"gene_symbol": "DICER1",
"hgvs_c": "c.3690G>A",
"hgvs_p": "p.Gln1230Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_177438.3",
"protein_coding": true,
"protein_id": "ENSP00000343745.3",
"strand": false,
"transcript": "ENST00000343455.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1922,
"aa_ref": "Q",
"aa_start": 1230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7423,
"cdna_start": 4093,
"cds_end": null,
"cds_length": 5769,
"cds_start": 3690,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000393063.6",
"gene_hgnc_id": 17098,
"gene_symbol": "DICER1",
"hgvs_c": "c.3690G>A",
"hgvs_p": "p.Gln1230Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376783.1",
"strand": false,
"transcript": "ENST00000393063.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1922,
"aa_ref": "Q",
"aa_start": 1230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6179,
"cdna_start": 3923,
"cds_end": null,
"cds_length": 5769,
"cds_start": 3690,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000527414.5",
"gene_hgnc_id": 17098,
"gene_symbol": "DICER1",
"hgvs_c": "c.3690G>A",
"hgvs_p": "p.Gln1230Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435681.1",
"strand": false,
"transcript": "ENST00000527414.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1922,
"aa_ref": "Q",
"aa_start": 1230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10374,
"cdna_start": 4025,
"cds_end": null,
"cds_length": 5769,
"cds_start": 3690,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000529720.2",
"gene_hgnc_id": 17098,
"gene_symbol": "DICER1",
"hgvs_c": "c.3690G>A",
"hgvs_p": "p.Gln1230Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433926.2",
"strand": false,
"transcript": "ENST00000529720.2",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1922,
"aa_ref": "Q",
"aa_start": 1230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10453,
"cdna_start": 4119,
"cds_end": null,
"cds_length": 5769,
"cds_start": 3690,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000531162.7",
"gene_hgnc_id": 17098,
"gene_symbol": "DICER1",
"hgvs_c": "c.3690G>A",
"hgvs_p": "p.Gln1230Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433060.3",
"strand": false,
"transcript": "ENST00000531162.7",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1829,
"aa_ref": "Q",
"aa_start": 1230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5621,
"cdna_start": 3699,
"cds_end": null,
"cds_length": 5490,
"cds_start": 3690,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000541352.5",
"gene_hgnc_id": 17098,
"gene_symbol": "DICER1",
"hgvs_c": "c.3690G>A",
"hgvs_p": "p.Gln1230Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444719.1",
"strand": false,
"transcript": "ENST00000541352.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1922,
"aa_ref": "Q",
"aa_start": 1230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10263,
"cdna_start": 3914,
"cds_end": null,
"cds_length": 5769,
"cds_start": 3690,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001271282.3",
"gene_hgnc_id": 17098,
"gene_symbol": "DICER1",
"hgvs_c": "c.3690G>A",
"hgvs_p": "p.Gln1230Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258211.1",
"strand": false,
"transcript": "NM_001271282.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1922,
"aa_ref": "Q",
"aa_start": 1230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10160,
"cdna_start": 3811,
"cds_end": null,
"cds_length": 5769,
"cds_start": 3690,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001291628.2",
"gene_hgnc_id": 17098,
"gene_symbol": "DICER1",
"hgvs_c": "c.3690G>A",
"hgvs_p": "p.Gln1230Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278557.1",
"strand": false,
"transcript": "NM_001291628.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1922,
"aa_ref": "Q",
"aa_start": 1230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10434,
"cdna_start": 4085,
"cds_end": null,
"cds_length": 5769,
"cds_start": 3690,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001395677.1",
"gene_hgnc_id": 17098,
"gene_symbol": "DICER1",
"hgvs_c": "c.3690G>A",
"hgvs_p": "p.Gln1230Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382606.1",
"strand": false,
"transcript": "NM_001395677.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1922,
"aa_ref": "Q",
"aa_start": 1230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10223,
"cdna_start": 3874,
"cds_end": null,
"cds_length": 5769,
"cds_start": 3690,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001395678.1",
"gene_hgnc_id": 17098,
"gene_symbol": "DICER1",
"hgvs_c": "c.3690G>A",
"hgvs_p": "p.Gln1230Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382607.1",
"strand": false,
"transcript": "NM_001395678.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1922,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10551,
"cdna_start": 4202,
"cds_end": null,
"cds_length": 5769,
"cds_start": 3690,
"consequences": [
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],
"exon_count": 29,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001395679.1",
"gene_hgnc_id": 17098,
"gene_symbol": "DICER1",
"hgvs_c": "c.3690G>A",
"hgvs_p": "p.Gln1230Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382608.1",
"strand": false,
"transcript": "NM_001395679.1",
"transcript_support_level": null
},
{
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"aa_length": 1922,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10390,
"cdna_start": 4041,
"cds_end": null,
"cds_length": 5769,
"cds_start": 3690,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001395680.1",
"gene_hgnc_id": 17098,
"gene_symbol": "DICER1",
"hgvs_c": "c.3690G>A",
"hgvs_p": "p.Gln1230Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382609.1",
"strand": false,
"transcript": "NM_001395680.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1922,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10694,
"cdna_start": 4345,
"cds_end": null,
"cds_length": 5769,
"cds_start": 3690,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001395682.1",
"gene_hgnc_id": 17098,
"gene_symbol": "DICER1",
"hgvs_c": "c.3690G>A",
"hgvs_p": "p.Gln1230Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382611.1",
"strand": false,
"transcript": "NM_001395682.1",
"transcript_support_level": null
},
{
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"aa_length": 1922,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10485,
"cdna_start": 4136,
"cds_end": null,
"cds_length": 5769,
"cds_start": 3690,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001395683.1",
"gene_hgnc_id": 17098,
"gene_symbol": "DICER1",
"hgvs_c": "c.3690G>A",
"hgvs_p": "p.Gln1230Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382612.1",
"strand": false,
"transcript": "NM_001395683.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1922,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10527,
"cdna_start": 4178,
"cds_end": null,
"cds_length": 5769,
"cds_start": 3690,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001395684.1",
"gene_hgnc_id": 17098,
"gene_symbol": "DICER1",
"hgvs_c": "c.3690G>A",
"hgvs_p": "p.Gln1230Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382613.1",
"strand": false,
"transcript": "NM_001395684.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 3982,
"cds_end": null,
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"consequences": [
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],
"exon_count": 29,
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"exon_rank_end": null,
"feature": "NM_030621.4",
"gene_hgnc_id": 17098,
"gene_symbol": "DICER1",
"hgvs_c": "c.3690G>A",
"hgvs_p": "p.Gln1230Gln",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_085124.2",
"strand": false,
"transcript": "NM_030621.4",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 10315,
"cdna_start": 3982,
"cds_end": null,
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"cds_start": 3690,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
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"exon_rank_end": null,
"feature": "ENST00000526495.6",
"gene_hgnc_id": 17098,
"gene_symbol": "DICER1",
"hgvs_c": "c.3690G>A",
"hgvs_p": "p.Gln1230Gln",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000437256.1",
"strand": false,
"transcript": "ENST00000526495.6",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
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"cdna_start": 4134,
"cds_end": null,
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"cds_start": 3690,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000674628.2",
"gene_hgnc_id": 17098,
"gene_symbol": "DICER1",
"hgvs_c": "c.3690G>A",
"hgvs_p": "p.Gln1230Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502730.2",
"strand": false,
"transcript": "ENST00000674628.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1922,
"aa_ref": "Q",
"aa_start": 1230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7446,
"cdna_start": 4070,
"cds_end": null,
"cds_length": 5769,
"cds_start": 3690,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000860615.1",
"gene_hgnc_id": 17098,
"gene_symbol": "DICER1",
"hgvs_c": "c.3690G>A",
"hgvs_p": "p.Gln1230Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530674.1",
"strand": false,
"transcript": "ENST00000860615.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1922,
"aa_ref": "Q",
"aa_start": 1230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6670,
"cdna_start": 4548,
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