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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: 3-129890314-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=129890314&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 10,
"criteria": [
"BP4_Moderate",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TMCC1",
"hgnc_id": 29116,
"hgvs_c": "c.-435+3180C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -10,
"transcript": "NM_001017395.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BA1",
"acmg_score": -10,
"allele_count_reference_population": 12412,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4099999964237213,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 653,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6303,
"cdna_start": null,
"cds_end": null,
"cds_length": 1962,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001017395.5",
"gene_hgnc_id": 29116,
"gene_symbol": "TMCC1",
"hgvs_c": "c.-435+3180C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000393238.8",
"protein_coding": true,
"protein_id": "NP_001017395.2",
"strand": false,
"transcript": "NM_001017395.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 653,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6303,
"cdna_start": null,
"cds_end": null,
"cds_length": 1962,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000393238.8",
"gene_hgnc_id": 29116,
"gene_symbol": "TMCC1",
"hgvs_c": "c.-435+3180C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001017395.5",
"protein_coding": true,
"protein_id": "ENSP00000376930.3",
"strand": false,
"transcript": "ENST00000393238.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 653,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6466,
"cdna_start": null,
"cds_end": null,
"cds_length": 1962,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349263.2",
"gene_hgnc_id": 29116,
"gene_symbol": "TMCC1",
"hgvs_c": "c.-598+3180C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336192.1",
"strand": false,
"transcript": "NM_001349263.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 653,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6306,
"cdna_start": null,
"cds_end": null,
"cds_length": 1962,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349264.2",
"gene_hgnc_id": 29116,
"gene_symbol": "TMCC1",
"hgvs_c": "c.-438+3180C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336193.1",
"strand": false,
"transcript": "NM_001349264.2",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 653,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6299,
"cdna_start": null,
"cds_end": null,
"cds_length": 1962,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349265.2",
"gene_hgnc_id": 29116,
"gene_symbol": "TMCC1",
"hgvs_c": "c.-431+3180C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336194.1",
"strand": false,
"transcript": "NM_001349265.2",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 653,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6462,
"cdna_start": null,
"cds_end": null,
"cds_length": 1962,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349266.2",
"gene_hgnc_id": 29116,
"gene_symbol": "TMCC1",
"hgvs_c": "c.-594+3180C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336195.1",
"strand": false,
"transcript": "NM_001349266.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 653,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6052,
"cdna_start": null,
"cds_end": null,
"cds_length": 1962,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349268.2",
"gene_hgnc_id": 29116,
"gene_symbol": "TMCC1",
"hgvs_c": "c.-184+3180C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336197.1",
"strand": false,
"transcript": "NM_001349268.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 653,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5580,
"cdna_start": null,
"cds_end": null,
"cds_length": 1962,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858270.1",
"gene_hgnc_id": 29116,
"gene_symbol": "TMCC1",
"hgvs_c": "c.-601+3180C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528329.1",
"strand": false,
"transcript": "ENST00000858270.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5087,
"cdna_start": null,
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"cds_length": 1962,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
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"feature": "ENST00000858271.1",
"gene_hgnc_id": 29116,
"gene_symbol": "TMCC1",
"hgvs_c": "c.-184+3180C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528330.1",
"strand": false,
"transcript": "ENST00000858271.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
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"feature": "ENST00000858272.1",
"gene_hgnc_id": 29116,
"gene_symbol": "TMCC1",
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"protein_coding": true,
"protein_id": "ENSP00000528331.1",
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"transcript": "ENST00000858272.1",
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},
{
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],
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"feature": "ENST00000858273.1",
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},
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},
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],
"exon_count": 9,
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"feature": "ENST00000858276.1",
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"protein_coding": true,
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},
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],
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"feature": "ENST00000915954.1",
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},
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],
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"feature": "ENST00000915955.1",
"gene_hgnc_id": 29116,
"gene_symbol": "TMCC1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000586014.1",
"strand": false,
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},
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"consequences": [
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],
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"feature": "ENST00000915956.1",
"gene_hgnc_id": 29116,
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"hgvs_c": "c.-434+3180C>T",
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},
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],
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},
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],
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},
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],
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"feature": "ENST00000915959.1",
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"protein_coding": true,
"protein_id": "ENSP00000586018.1",
"strand": false,
"transcript": "ENST00000915959.1",
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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": "ENST00000915960.1",
"gene_hgnc_id": 29116,
"gene_symbol": "TMCC1",
"hgvs_c": "c.-646-1210C>T",
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"protein_coding": true,
"protein_id": "ENSP00000586019.1",
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"transcript": "ENST00000915960.1",
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},
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