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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: 2-215361694-CG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=215361694&ref=CG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 215361694,
"ref": "CG",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_212482.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": 45,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7363-69delC",
"hgvs_p": null,
"transcript": "NM_212482.4",
"protein_id": "NP_997647.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2477,
"cds_start": null,
"cds_end": null,
"cds_length": 7434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000354785.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_212482.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": 45,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7363-69delC",
"hgvs_p": null,
"transcript": "ENST00000354785.11",
"protein_id": "ENSP00000346839.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2477,
"cds_start": null,
"cds_end": null,
"cds_length": 7434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_212482.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354785.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 46,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7270-69delC",
"hgvs_p": null,
"transcript": "ENST00000323926.10",
"protein_id": "ENSP00000323534.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2446,
"cds_start": null,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323926.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": 45,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.6997-69delC",
"hgvs_p": null,
"transcript": "ENST00000336916.8",
"protein_id": "ENSP00000338200.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2355,
"cds_start": null,
"cds_end": null,
"cds_length": 7068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336916.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": 45,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.6922-69delC",
"hgvs_p": null,
"transcript": "ENST00000446046.5",
"protein_id": "ENSP00000410422.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2330,
"cds_start": null,
"cds_end": null,
"cds_length": 6993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446046.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": 43,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.6820-69delC",
"hgvs_p": null,
"transcript": "ENST00000356005.8",
"protein_id": "ENSP00000348285.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2296,
"cds_start": null,
"cds_end": null,
"cds_length": 6891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356005.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": 44,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.6733-69delC",
"hgvs_p": null,
"transcript": "ENST00000432072.6",
"protein_id": "ENSP00000399538.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2267,
"cds_start": null,
"cds_end": null,
"cds_length": 6804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432072.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": 44,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.6727-69delC",
"hgvs_p": null,
"transcript": "ENST00000443816.5",
"protein_id": "ENSP00000415018.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2265,
"cds_start": null,
"cds_end": null,
"cds_length": 6798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443816.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": 44,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.6652-69delC",
"hgvs_p": null,
"transcript": "ENST00000421182.5",
"protein_id": "ENSP00000394423.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2240,
"cds_start": null,
"cds_end": null,
"cds_length": 6723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421182.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": 43,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.6460-69delC",
"hgvs_p": null,
"transcript": "ENST00000357867.8",
"protein_id": "ENSP00000350534.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2176,
"cds_start": null,
"cds_end": null,
"cds_length": 6531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357867.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": 45,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7357-69delC",
"hgvs_p": null,
"transcript": "ENST00000933287.1",
"protein_id": "ENSP00000603346.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2475,
"cds_start": null,
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"cds_length": 7428,
"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000933287.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 47,
"intron_rank": 46,
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"gene_symbol": "FN1",
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"hgvs_c": "c.7270-69delC",
"hgvs_p": null,
"transcript": "NM_001306129.2",
"protein_id": "NP_001293058.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2446,
"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "NM_001306129.2"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": 44,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7093-69delC",
"hgvs_p": null,
"transcript": "NM_001365517.2",
"protein_id": "NP_001352446.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2387,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001365517.2"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "FN1",
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"hgvs_c": "c.7090-69delC",
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"transcript": "NM_001365518.2",
"protein_id": "NP_001352447.1",
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 45,
"intron_rank": 44,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7090-69delC",
"hgvs_p": null,
"transcript": "ENST00000359671.5",
"protein_id": "ENSP00000352696.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000359671.5"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 44,
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"gene_symbol": "FN1",
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"hgvs_c": "c.7084-69delC",
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"transcript": "ENST00000967218.1",
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},
{
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"protein_coding": true,
"strand": false,
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],
"exon_rank": null,
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"exon_count": 45,
"intron_rank": 44,
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"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7018-69delC",
"hgvs_p": null,
"transcript": "NM_001365519.2",
"protein_id": "NP_001352448.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 2362,
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"biotype": "protein_coding",
"feature": "NM_001365519.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 45,
"intron_rank": 44,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7015-69delC",
"hgvs_p": null,
"transcript": "NM_001365520.2",
"protein_id": "NP_001352449.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "NM_001365520.2"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "FN1",
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"hgvs_c": "c.7003-69delC",
"hgvs_p": null,
"transcript": "ENST00000865085.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "FN1",
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"hgvs_c": "c.7000-69delC",
"hgvs_p": null,
"transcript": "NM_001365521.2",
"protein_id": "NP_001352450.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "FN1",
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"hgvs_c": "c.6997-69delC",
"hgvs_p": null,
"transcript": "NM_002026.4",
"protein_id": "NP_002017.2",
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"cds_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002026.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": 45,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.6997-69delC",
"hgvs_p": null,
"transcript": "ENST00000865089.1",
"protein_id": "ENSP00000535148.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865089.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": 45,
"intron_rank_end": null,
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"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -1.835,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_212482.4",
"gene_symbol": "FN1",
"hgnc_id": 3778,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.7363-69delC",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007075418.1",
"gene_symbol": "ATIC",
"hgnc_id": 794,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.1872-948delG",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}