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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: 22-45335658-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=45335658&ref=C&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": "FAM118A",
"hgnc_id": 1313,
"hgvs_c": "c.1012+276C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001349916.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 130070,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.83,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8299999833106995,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 357,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2883,
"cdna_start": null,
"cds_end": null,
"cds_length": 1074,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_017911.4",
"gene_hgnc_id": 1313,
"gene_symbol": "FAM118A",
"hgvs_c": "c.970+276C>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000441876.7",
"protein_coding": true,
"protein_id": "NP_060381.2",
"strand": true,
"transcript": "NM_017911.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 357,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2883,
"cdna_start": null,
"cds_end": null,
"cds_length": 1074,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000441876.7",
"gene_hgnc_id": 1313,
"gene_symbol": "FAM118A",
"hgvs_c": "c.970+276C>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017911.4",
"protein_coding": true,
"protein_id": "ENSP00000395892.2",
"strand": true,
"transcript": "ENST00000441876.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 371,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3249,
"cdna_start": null,
"cds_end": null,
"cds_length": 1116,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349916.2",
"gene_hgnc_id": 1313,
"gene_symbol": "FAM118A",
"hgvs_c": "c.1012+276C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336845.1",
"strand": true,
"transcript": "NM_001349916.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 358,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2886,
"cdna_start": null,
"cds_end": null,
"cds_length": 1077,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349914.2",
"gene_hgnc_id": 1313,
"gene_symbol": "FAM118A",
"hgvs_c": "c.973+276C>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336843.1",
"strand": true,
"transcript": "NM_001349914.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 358,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3147,
"cdna_start": null,
"cds_end": null,
"cds_length": 1077,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894424.1",
"gene_hgnc_id": 1313,
"gene_symbol": "FAM118A",
"hgvs_c": "c.973+276C>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564483.1",
"strand": true,
"transcript": "ENST00000894424.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 358,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2893,
"cdna_start": null,
"cds_end": null,
"cds_length": 1077,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894426.1",
"gene_hgnc_id": 1313,
"gene_symbol": "FAM118A",
"hgvs_c": "c.973+276C>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564485.1",
"strand": true,
"transcript": "ENST00000894426.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 358,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3674,
"cdna_start": null,
"cds_end": null,
"cds_length": 1077,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951640.1",
"gene_hgnc_id": 1313,
"gene_symbol": "FAM118A",
"hgvs_c": "c.973+276C>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621699.1",
"strand": true,
"transcript": "ENST00000951640.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 358,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2786,
"cdna_start": null,
"cds_end": null,
"cds_length": 1077,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951649.1",
"gene_hgnc_id": 1313,
"gene_symbol": "FAM118A",
"hgvs_c": "c.973+276C>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621708.1",
"strand": true,
"transcript": "ENST00000951649.1",
"transcript_support_level": null
},
{
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"aa_length": 357,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3480,
"cdna_start": null,
"cds_end": null,
"cds_length": 1074,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001104595.2",
"gene_hgnc_id": 1313,
"gene_symbol": "FAM118A",
"hgvs_c": "c.970+276C>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001098065.1",
"strand": true,
"transcript": "NM_001104595.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2825,
"cdna_start": null,
"cds_end": null,
"cds_length": 1074,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349913.2",
"gene_hgnc_id": 1313,
"gene_symbol": "FAM118A",
"hgvs_c": "c.970+276C>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336842.1",
"strand": true,
"transcript": "NM_001349913.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
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"feature": "ENST00000216214.7",
"gene_hgnc_id": 1313,
"gene_symbol": "FAM118A",
"hgvs_c": "c.970+276C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000216214.3",
"strand": true,
"transcript": "ENST00000216214.7",
"transcript_support_level": 2
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
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"feature": "ENST00000894427.1",
"gene_hgnc_id": 1313,
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"hgvs_c": "c.970+276C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000564486.1",
"strand": true,
"transcript": "ENST00000894427.1",
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},
{
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],
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"feature": "ENST00000894428.1",
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"protein_coding": true,
"protein_id": "ENSP00000564487.1",
"strand": true,
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},
{
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000915811.1",
"gene_hgnc_id": 1313,
"gene_symbol": "FAM118A",
"hgvs_c": "c.970+276C>T",
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"intron_rank": 8,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000585870.1",
"strand": true,
"transcript": "ENST00000915811.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000915815.1",
"gene_hgnc_id": 1313,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000585874.1",
"strand": true,
"transcript": "ENST00000915815.1",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000951641.1",
"gene_hgnc_id": 1313,
"gene_symbol": "FAM118A",
"hgvs_c": "c.970+276C>T",
"hgvs_p": null,
"intron_rank": 9,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000621700.1",
"strand": true,
"transcript": "ENST00000951641.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 2927,
"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
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"feature": "ENST00000951648.1",
"gene_hgnc_id": 1313,
"gene_symbol": "FAM118A",
"hgvs_c": "c.970+276C>T",
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"mane_plus": null,
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"protein_id": "ENSP00000621707.1",
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},
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],
"exon_count": 9,
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"feature": "ENST00000951650.1",
"gene_hgnc_id": 1313,
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},
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],
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"feature": "ENST00000951651.1",
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},
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"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000951647.1",
"gene_hgnc_id": 1313,
"gene_symbol": "FAM118A",
"hgvs_c": "c.941-670C>T",
"hgvs_p": null,
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"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000621706.1",
"strand": true,
"transcript": "ENST00000951647.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 1041,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915814.1",
"gene_hgnc_id": 1313,
"gene_symbol": "FAM118A",
"hgvs_c": "c.938-670C>T",
"hgvs_p": null,
"intron_rank": 6,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585873.1",
"strand": true,
"transcript": "ENST00000915814.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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