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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: 6-170365278-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=170365278&ref=T&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": "FAM120B",
"hgnc_id": 21109,
"hgvs_c": "c.2352+6960T>C",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001286380.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 52483,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -1.03,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -1.0299999713897705,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 910,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5155,
"cdna_start": null,
"cds_end": null,
"cds_length": 2733,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_032448.3",
"gene_hgnc_id": 21109,
"gene_symbol": "FAM120B",
"hgvs_c": "c.2283+6960T>C",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000476287.4",
"protein_coding": true,
"protein_id": "NP_115824.1",
"strand": true,
"transcript": "NM_032448.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 910,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5155,
"cdna_start": null,
"cds_end": null,
"cds_length": 2733,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000476287.4",
"gene_hgnc_id": 21109,
"gene_symbol": "FAM120B",
"hgvs_c": "c.2283+6960T>C",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032448.3",
"protein_coding": true,
"protein_id": "ENSP00000417970.1",
"strand": true,
"transcript": "ENST00000476287.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 933,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5203,
"cdna_start": null,
"cds_end": null,
"cds_length": 2802,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001286380.2",
"gene_hgnc_id": 21109,
"gene_symbol": "FAM120B",
"hgvs_c": "c.2352+6960T>C",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273309.1",
"strand": true,
"transcript": "NM_001286380.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 933,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3212,
"cdna_start": null,
"cds_end": null,
"cds_length": 2802,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000537664.5",
"gene_hgnc_id": 21109,
"gene_symbol": "FAM120B",
"hgvs_c": "c.2352+6960T>C",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440125.1",
"strand": true,
"transcript": "ENST00000537664.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 922,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5440,
"cdna_start": null,
"cds_end": null,
"cds_length": 2769,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001286379.2",
"gene_hgnc_id": 21109,
"gene_symbol": "FAM120B",
"hgvs_c": "c.2319+6960T>C",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273308.1",
"strand": true,
"transcript": "NM_001286379.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 922,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3721,
"cdna_start": null,
"cds_end": null,
"cds_length": 2769,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000630384.2",
"gene_hgnc_id": 21109,
"gene_symbol": "FAM120B",
"hgvs_c": "c.2319+6960T>C",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485745.1",
"strand": true,
"transcript": "ENST00000630384.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 910,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4105,
"cdna_start": null,
"cds_end": null,
"cds_length": 2733,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901518.1",
"gene_hgnc_id": 21109,
"gene_symbol": "FAM120B",
"hgvs_c": "c.2283+6960T>C",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571577.1",
"strand": true,
"transcript": "ENST00000901518.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 910,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5135,
"cdna_start": null,
"cds_end": null,
"cds_length": 2733,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901520.1",
"gene_hgnc_id": 21109,
"gene_symbol": "FAM120B",
"hgvs_c": "c.2283+6960T>C",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571579.1",
"strand": true,
"transcript": "ENST00000901520.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 910,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3338,
"cdna_start": null,
"cds_end": null,
"cds_length": 2733,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901522.1",
"gene_hgnc_id": 21109,
"gene_symbol": "FAM120B",
"hgvs_c": "c.2283+6960T>C",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571581.1",
"strand": true,
"transcript": "ENST00000901522.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 910,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3416,
"cdna_start": null,
"cds_end": null,
"cds_length": 2733,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000966364.1",
"gene_hgnc_id": 21109,
"gene_symbol": "FAM120B",
"hgvs_c": "c.2283+6960T>C",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636423.1",
"strand": true,
"transcript": "ENST00000966364.1",
"transcript_support_level": null
},
{
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"cdna_start": null,
"cds_end": null,
"cds_length": 2733,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000966365.1",
"gene_hgnc_id": 21109,
"gene_symbol": "FAM120B",
"hgvs_c": "c.2283+6960T>C",
"hgvs_p": null,
"intron_rank": 6,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636424.1",
"strand": true,
"transcript": "ENST00000966365.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 12,
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"feature": "ENST00000966367.1",
"gene_hgnc_id": 21109,
"gene_symbol": "FAM120B",
"hgvs_c": "c.2283+6960T>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000636426.1",
"strand": true,
"transcript": "ENST00000966367.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
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"feature": "ENST00000966373.1",
"gene_hgnc_id": 21109,
"gene_symbol": "FAM120B",
"hgvs_c": "c.2283+6960T>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000636432.1",
"strand": true,
"transcript": "ENST00000966373.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 2646,
"cds_start": null,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000966369.1",
"gene_hgnc_id": 21109,
"gene_symbol": "FAM120B",
"hgvs_c": "c.2111-5205T>C",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636428.1",
"strand": true,
"transcript": "ENST00000966369.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000901519.1",
"gene_hgnc_id": 21109,
"gene_symbol": "FAM120B",
"hgvs_c": "c.2190+16955T>C",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000571578.1",
"strand": true,
"transcript": "ENST00000901519.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915624.1",
"gene_hgnc_id": 21109,
"gene_symbol": "FAM120B",
"hgvs_c": "c.2190+16955T>C",
"hgvs_p": null,
"intron_rank": 6,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585683.1",
"strand": true,
"transcript": "ENST00000915624.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000966372.1",
"gene_hgnc_id": 21109,
"gene_symbol": "FAM120B",
"hgvs_c": "c.2190+16955T>C",
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"intron_rank": 6,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000636431.1",
"strand": true,
"transcript": "ENST00000966372.1",
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},
{
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],
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"feature": "ENST00000901517.1",
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"protein_id": "ENSP00000571576.1",
"strand": true,
"transcript": "ENST00000901517.1",
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},
{
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],
"exon_count": 11,
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"feature": "ENST00000966371.1",
"gene_hgnc_id": 21109,
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"hgvs_c": "c.2110+6960T>C",
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"protein_coding": true,
"protein_id": "ENSP00000636430.1",
"strand": true,
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},
{
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"biotype": "protein_coding",
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"cds_length": 2526,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
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"feature": "ENST00000901521.1",
"gene_hgnc_id": 21109,
"gene_symbol": "FAM120B",
"hgvs_c": "c.2283+6960T>C",
"hgvs_p": null,
"intron_rank": 6,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571580.1",
"strand": true,
"transcript": "ENST00000901521.1",
"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": 2940,
"cdna_start": null,
"cds_end": null,
"cds_length": 2520,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915628.1",
"gene_hgnc_id": 21109,
"gene_symbol": "FAM120B",
"hgvs_c": "c.2070+17075T>C",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585687.1",
"strand": true,
"transcript": "ENST00000915628.1",
"transcript_support_level": null
},
{
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