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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: 14-95096313-CCA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=95096313&ref=CCA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 95096313,
"ref": "CCA",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_030621.4",
"consequences": [
{
"aa_ref": "CG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4605_4606delTG",
"hgvs_p": "p.Cys1535fs",
"transcript": "NM_177438.3",
"protein_id": "NP_803187.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1922,
"cds_start": 4605,
"cds_end": null,
"cds_length": 5769,
"cdna_start": 4951,
"cdna_end": null,
"cdna_length": 10384,
"mane_select": "ENST00000343455.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_177438.3"
},
{
"aa_ref": "CG",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4605_4606delTG",
"hgvs_p": "p.Cys1535fs",
"transcript": "ENST00000343455.8",
"protein_id": "ENSP00000343745.3",
"transcript_support_level": 1,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1922,
"cds_start": 4605,
"cds_end": null,
"cds_length": 5769,
"cdna_start": 4951,
"cdna_end": null,
"cdna_length": 10384,
"mane_select": "NM_177438.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343455.8"
},
{
"aa_ref": "CG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4605_4606delTG",
"hgvs_p": "p.Cys1535fs",
"transcript": "ENST00000393063.6",
"protein_id": "ENSP00000376783.1",
"transcript_support_level": 1,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1922,
"cds_start": 4605,
"cds_end": null,
"cds_length": 5769,
"cdna_start": 5009,
"cdna_end": null,
"cdna_length": 7423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393063.6"
},
{
"aa_ref": "CG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4605_4606delTG",
"hgvs_p": "p.Cys1535fs",
"transcript": "ENST00000527414.5",
"protein_id": "ENSP00000435681.1",
"transcript_support_level": 1,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1922,
"cds_start": 4605,
"cds_end": null,
"cds_length": 5769,
"cdna_start": 4839,
"cdna_end": null,
"cdna_length": 6179,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527414.5"
},
{
"aa_ref": "CG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4605_4606delTG",
"hgvs_p": "p.Cys1535fs",
"transcript": "ENST00000529720.2",
"protein_id": "ENSP00000433926.2",
"transcript_support_level": 1,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1922,
"cds_start": 4605,
"cds_end": null,
"cds_length": 5769,
"cdna_start": 4941,
"cdna_end": null,
"cdna_length": 10374,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529720.2"
},
{
"aa_ref": "CG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4605_4606delTG",
"hgvs_p": "p.Cys1535fs",
"transcript": "ENST00000531162.7",
"protein_id": "ENSP00000433060.3",
"transcript_support_level": 1,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1922,
"cds_start": 4605,
"cds_end": null,
"cds_length": 5769,
"cdna_start": 5035,
"cdna_end": null,
"cdna_length": 10453,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531162.7"
},
{
"aa_ref": "CG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4605_4606delTG",
"hgvs_p": "p.Cys1535fs",
"transcript": "ENST00000541352.5",
"protein_id": "ENSP00000444719.1",
"transcript_support_level": 1,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1829,
"cds_start": 4605,
"cds_end": null,
"cds_length": 5490,
"cdna_start": 4615,
"cdna_end": null,
"cdna_length": 5621,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541352.5"
},
{
"aa_ref": "CG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4605_4606delTG",
"hgvs_p": "p.Cys1535fs",
"transcript": "NM_001271282.3",
"protein_id": "NP_001258211.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1922,
"cds_start": 4605,
"cds_end": null,
"cds_length": 5769,
"cdna_start": 4830,
"cdna_end": null,
"cdna_length": 10263,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271282.3"
},
{
"aa_ref": "CG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4605_4606delTG",
"hgvs_p": "p.Cys1535fs",
"transcript": "NM_001291628.2",
"protein_id": "NP_001278557.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1922,
"cds_start": 4605,
"cds_end": null,
"cds_length": 5769,
"cdna_start": 4727,
"cdna_end": null,
"cdna_length": 10160,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291628.2"
},
{
"aa_ref": "CG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4605_4606delTG",
"hgvs_p": "p.Cys1535fs",
"transcript": "NM_001395677.1",
"protein_id": "NP_001382606.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1922,
"cds_start": 4605,
"cds_end": null,
"cds_length": 5769,
"cdna_start": 5001,
"cdna_end": null,
"cdna_length": 10434,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395677.1"
},
{
"aa_ref": "CG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4605_4606delTG",
"hgvs_p": "p.Cys1535fs",
"transcript": "NM_001395678.1",
"protein_id": "NP_001382607.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1922,
"cds_start": 4605,
"cds_end": null,
"cds_length": 5769,
"cdna_start": 4790,
"cdna_end": null,
"cdna_length": 10223,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395678.1"
},
{
"aa_ref": "CG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4605_4606delTG",
"hgvs_p": "p.Cys1535fs",
"transcript": "NM_001395679.1",
"protein_id": "NP_001382608.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1922,
"cds_start": 4605,
"cds_end": null,
"cds_length": 5769,
"cdna_start": 5118,
"cdna_end": null,
"cdna_length": 10551,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395679.1"
},
{
"aa_ref": "CG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4605_4606delTG",
"hgvs_p": "p.Cys1535fs",
"transcript": "NM_001395680.1",
"protein_id": "NP_001382609.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1922,
"cds_start": 4605,
"cds_end": null,
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"cdna_start": 4957,
"cdna_end": null,
"cdna_length": 10390,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395680.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4605_4606delTG",
"hgvs_p": "p.Cys1535fs",
"transcript": "NM_001395682.1",
"protein_id": "NP_001382611.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1922,
"cds_start": 4605,
"cds_end": null,
"cds_length": 5769,
"cdna_start": 5261,
"cdna_end": null,
"cdna_length": 10694,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395682.1"
},
{
"aa_ref": "CG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4605_4606delTG",
"hgvs_p": "p.Cys1535fs",
"transcript": "NM_001395683.1",
"protein_id": "NP_001382612.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1922,
"cds_start": 4605,
"cds_end": null,
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"cdna_start": 5052,
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"cdna_length": 10485,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395683.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4605_4606delTG",
"hgvs_p": "p.Cys1535fs",
"transcript": "NM_001395684.1",
"protein_id": "NP_001382613.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1922,
"cds_start": 4605,
"cds_end": null,
"cds_length": 5769,
"cdna_start": 5094,
"cdna_end": null,
"cdna_length": 10527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395684.1"
},
{
"aa_ref": "CG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4605_4606delTG",
"hgvs_p": "p.Cys1535fs",
"transcript": "NM_030621.4",
"protein_id": "NP_085124.2",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1922,
"cds_start": 4605,
"cds_end": null,
"cds_length": 5769,
"cdna_start": 4898,
"cdna_end": null,
"cdna_length": 10331,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030621.4"
},
{
"aa_ref": "CG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4605_4606delTG",
"hgvs_p": "p.Cys1535fs",
"transcript": "ENST00000526495.6",
"protein_id": "ENSP00000437256.1",
"transcript_support_level": 5,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1922,
"cds_start": 4605,
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"cdna_start": 4898,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000526495.6"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4605_4606delTG",
"hgvs_p": "p.Cys1535fs",
"transcript": "ENST00000674628.2",
"protein_id": "ENSP00000502730.2",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1922,
"cds_start": 4605,
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"cdna_start": 5050,
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"cdna_length": 10483,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674628.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4605_4606delTG",
"hgvs_p": "p.Cys1535fs",
"transcript": "ENST00000860615.1",
"protein_id": "ENSP00000530674.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1922,
"cds_start": 4605,
"cds_end": null,
"cds_length": 5769,
"cdna_start": 4986,
"cdna_end": null,
"cdna_length": 7446,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860615.1"
},
{
"aa_ref": "CG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4605_4606delTG",
"hgvs_p": "p.Cys1535fs",
"transcript": "ENST00000860616.1",
"protein_id": "ENSP00000530675.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1922,
"cds_start": 4605,
"cds_end": null,
"cds_length": 5769,
"cdna_start": 5464,
"cdna_end": null,
"cdna_length": 6670,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860616.1"
},
{
"aa_ref": "CG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.4605_4606delTG",
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:7",
"phenotype_combined": "DICER1-related tumor predisposition|Hereditary cancer-predisposing syndrome|not provided|Vertebral anomalies and variable endocrine and T-cell dysfunction",
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}
],
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}