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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: 1-230951329-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=230951329&ref=A&alt=C&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": "TTC13",
"hgnc_id": 26204,
"hgvs_c": "c.513+3004T>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_024525.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 130106,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.93,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9300000071525574,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 860,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3276,
"cdna_start": null,
"cds_end": null,
"cds_length": 2583,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_024525.5",
"gene_hgnc_id": 26204,
"gene_symbol": "TTC13",
"hgvs_c": "c.513+3004T>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000366661.9",
"protein_coding": true,
"protein_id": "NP_078801.3",
"strand": false,
"transcript": "NM_024525.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 860,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3276,
"cdna_start": null,
"cds_end": null,
"cds_length": 2583,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000366661.9",
"gene_hgnc_id": 26204,
"gene_symbol": "TTC13",
"hgvs_c": "c.513+3004T>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024525.5",
"protein_coding": true,
"protein_id": "ENSP00000355621.4",
"strand": false,
"transcript": "ENST00000366661.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 806,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3112,
"cdna_start": null,
"cds_end": null,
"cds_length": 2421,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000366662.8",
"gene_hgnc_id": 26204,
"gene_symbol": "TTC13",
"hgvs_c": "c.513+3004T>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355622.4",
"strand": false,
"transcript": "ENST00000366662.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 865,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3262,
"cdna_start": null,
"cds_end": null,
"cds_length": 2598,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944177.1",
"gene_hgnc_id": 26204,
"gene_symbol": "TTC13",
"hgvs_c": "c.513+3004T>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614236.1",
"strand": false,
"transcript": "ENST00000944177.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 859,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3273,
"cdna_start": null,
"cds_end": null,
"cds_length": 2580,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001376510.1",
"gene_hgnc_id": 26204,
"gene_symbol": "TTC13",
"hgvs_c": "c.513+3004T>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363439.1",
"strand": false,
"transcript": "NM_001376510.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 859,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3305,
"cdna_start": null,
"cds_end": null,
"cds_length": 2580,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000902284.1",
"gene_hgnc_id": 26204,
"gene_symbol": "TTC13",
"hgvs_c": "c.513+3004T>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572343.1",
"strand": false,
"transcript": "ENST00000902284.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 859,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3260,
"cdna_start": null,
"cds_end": null,
"cds_length": 2580,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944174.1",
"gene_hgnc_id": 26204,
"gene_symbol": "TTC13",
"hgvs_c": "c.513+3004T>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614233.1",
"strand": false,
"transcript": "ENST00000944174.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 859,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3258,
"cdna_start": null,
"cds_end": null,
"cds_length": 2580,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944175.1",
"gene_hgnc_id": 26204,
"gene_symbol": "TTC13",
"hgvs_c": "c.513+3004T>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614234.1",
"strand": false,
"transcript": "ENST00000944175.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3183,
"cdna_start": null,
"cds_end": null,
"cds_length": 2490,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
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"feature": "NM_001376507.1",
"gene_hgnc_id": 26204,
"gene_symbol": "TTC13",
"hgvs_c": "c.513+3004T>G",
"hgvs_p": null,
"intron_rank": 4,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363436.1",
"strand": false,
"transcript": "NM_001376507.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
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"feature": "ENST00000902288.1",
"gene_hgnc_id": 26204,
"gene_symbol": "TTC13",
"hgvs_c": "c.513+3004T>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000572347.1",
"strand": false,
"transcript": "ENST00000902288.1",
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},
{
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"consequences": [
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],
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"exon_rank": null,
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"feature": "NM_001376513.1",
"gene_hgnc_id": 26204,
"gene_symbol": "TTC13",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001363442.1",
"strand": false,
"transcript": "NM_001376513.1",
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},
{
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],
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"feature": "ENST00000902289.1",
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"protein_coding": true,
"protein_id": "ENSP00000572348.1",
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},
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},
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"consequences": [
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],
"exon_count": 22,
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"feature": "ENST00000902285.1",
"gene_hgnc_id": 26204,
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"protein_id": "ENSP00000572344.1",
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},
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],
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"feature": "NM_001376511.1",
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"protein_id": "NP_001363440.1",
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},
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],
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"feature": "ENST00000902282.1",
"gene_hgnc_id": 26204,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000572341.1",
"strand": false,
"transcript": "ENST00000902282.1",
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},
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"consequences": [
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],
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"feature": "NM_001122835.3",
"gene_hgnc_id": 26204,
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},
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],
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"feature": "ENST00000931889.1",
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},
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],
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"gene_hgnc_id": 26204,
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},
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"consequences": [
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],
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"feature": "ENST00000902283.1",
"gene_hgnc_id": 26204,
"gene_symbol": "TTC13",
"hgvs_c": "c.513+3004T>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000572342.1",
"strand": false,
"transcript": "ENST00000902283.1",
"transcript_support_level": null
},
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001376512.1",
"gene_hgnc_id": 26204,
"gene_symbol": "TTC13",
"hgvs_c": "c.513+3004T>G",
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"intron_rank": 4,
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"protein_coding": true,
"protein_id": "NP_001363441.1",
"strand": false,
"transcript": "NM_001376512.1",
"transcript_support_level": null
},
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