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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: 1-93251417-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=93251417&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CCDC18",
"hgnc_id": 30370,
"hgvs_c": "c.3199-3054G>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001378204.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 76695,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -1.04,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -1.0399999618530273,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1455,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4752,
"cdna_start": null,
"cds_end": null,
"cds_length": 4368,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378204.1",
"gene_hgnc_id": 30370,
"gene_symbol": "CCDC18",
"hgvs_c": "c.3199-3054G>T",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000690025.1",
"protein_coding": true,
"protein_id": "NP_001365133.1",
"strand": true,
"transcript": "NM_001378204.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1455,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4752,
"cdna_start": null,
"cds_end": null,
"cds_length": 4368,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000690025.1",
"gene_hgnc_id": 30370,
"gene_symbol": "CCDC18",
"hgvs_c": "c.3199-3054G>T",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001378204.1",
"protein_coding": true,
"protein_id": "ENSP00000510597.1",
"strand": true,
"transcript": "ENST00000690025.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1299,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4552,
"cdna_start": null,
"cds_end": null,
"cds_length": 3900,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000401026.7",
"gene_hgnc_id": 30370,
"gene_symbol": "CCDC18",
"hgvs_c": "c.3199-3054G>T",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383808.3",
"strand": true,
"transcript": "ENST00000401026.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1455,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5138,
"cdna_start": null,
"cds_end": null,
"cds_length": 4368,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000935053.1",
"gene_hgnc_id": 30370,
"gene_symbol": "CCDC18",
"hgvs_c": "c.3199-3054G>T",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605112.1",
"strand": true,
"transcript": "ENST00000935053.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1455,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6268,
"cdna_start": null,
"cds_end": null,
"cds_length": 4368,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000935055.1",
"gene_hgnc_id": 30370,
"gene_symbol": "CCDC18",
"hgvs_c": "c.3199-3054G>T",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605114.1",
"strand": true,
"transcript": "ENST00000935055.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1454,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4787,
"cdna_start": null,
"cds_end": null,
"cds_length": 4365,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001306076.1",
"gene_hgnc_id": 30370,
"gene_symbol": "CCDC18",
"hgvs_c": "c.3196-3054G>T",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001293005.1",
"strand": true,
"transcript": "NM_001306076.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1454,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4867,
"cdna_start": null,
"cds_end": null,
"cds_length": 4365,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000343253.11",
"gene_hgnc_id": 30370,
"gene_symbol": "CCDC18",
"hgvs_c": "c.3196-3054G>T",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343377.7",
"strand": true,
"transcript": "ENST00000343253.11",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1454,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4779,
"cdna_start": null,
"cds_end": null,
"cds_length": 4365,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000370276.6",
"gene_hgnc_id": 30370,
"gene_symbol": "CCDC18",
"hgvs_c": "c.3196-3054G>T",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359299.2",
"strand": true,
"transcript": "ENST00000370276.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
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"aa_length": 1439,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5037,
"cdna_start": null,
"cds_end": null,
"cds_length": 4320,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000935054.1",
"gene_hgnc_id": 30370,
"gene_symbol": "CCDC18",
"hgvs_c": "c.3151-3054G>T",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605113.1",
"strand": true,
"transcript": "ENST00000935054.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 3900,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_206886.4",
"gene_hgnc_id": 30370,
"gene_symbol": "CCDC18",
"hgvs_c": "c.3199-3054G>T",
"hgvs_p": null,
"intron_rank": 23,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_996769.3",
"strand": true,
"transcript": "NM_206886.4",
"transcript_support_level": null
},
{
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"cds_end": null,
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"consequences": [
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],
"exon_count": 28,
"exon_rank": null,
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"feature": "ENST00000935051.1",
"gene_hgnc_id": 30370,
"gene_symbol": "CCDC18",
"hgvs_c": "c.3199-3054G>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000605110.1",
"strand": true,
"transcript": "ENST00000935051.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
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"feature": "ENST00000935052.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000605111.1",
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"transcript": "ENST00000935052.1",
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},
{
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"feature": "ENST00000956829.1",
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"protein_coding": true,
"protein_id": "ENSP00000626888.1",
"strand": true,
"transcript": "ENST00000956829.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 27,
"exon_rank": null,
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"feature": "ENST00000956828.1",
"gene_hgnc_id": 30370,
"gene_symbol": "CCDC18",
"hgvs_c": "c.3067-3054G>T",
"hgvs_p": null,
"intron_rank": 22,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000626887.1",
"strand": true,
"transcript": "ENST00000956828.1",
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},
{
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],
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"feature": "XM_017001154.3",
"gene_hgnc_id": 30370,
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"hgvs_c": "c.3199-3054G>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_016856643.2",
"strand": true,
"transcript": "XM_017001154.3",
"transcript_support_level": null
},
{
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"consequences": [
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],
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"feature": "XM_017001156.3",
"gene_hgnc_id": 30370,
"gene_symbol": "CCDC18",
"hgvs_c": "c.3199-3054G>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_016856645.2",
"strand": true,
"transcript": "XM_017001156.3",
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},
{
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"canonical": false,
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"cds_start": null,
"consequences": [
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],
"exon_count": 28,
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"feature": "XM_017001162.3",
"gene_hgnc_id": 30370,
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"hgvs_c": "c.3199-3054G>T",
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"protein_coding": true,
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"strand": true,
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},
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],
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"feature": "XM_017001164.3",
"gene_hgnc_id": 30370,
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},
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],
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"feature": "XM_017001155.3",
"gene_hgnc_id": 30370,
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"strand": true,
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},
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"consequences": [
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],
"exon_count": 28,
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"feature": "XM_047419444.1",
"gene_hgnc_id": 30370,
"gene_symbol": "CCDC18",
"hgvs_c": "c.3196-3054G>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047275400.1",
"strand": true,
"transcript": "XM_047419444.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 4446,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017001157.3",
"gene_hgnc_id": 30370,
"gene_symbol": "CCDC18",
"hgvs_c": "c.3151-3054G>T",
"hgvs_p": null,
"intron_rank": 23,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856646.2",
"strand": true,
"transcript": "XM_017001157.3",
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},
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