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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: 1-167980200-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=167980200&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "DCAF6",
"hgnc_id": 30002,
"hgvs_c": "c.438+5185G>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_001198956.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_score": -8,
"allele_count_reference_population": 98,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -1.07,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -1.0700000524520874,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 951,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3486,
"cdna_start": null,
"cds_end": null,
"cds_length": 2856,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001198956.2",
"gene_hgnc_id": 30002,
"gene_symbol": "DCAF6",
"hgvs_c": "c.438+5185G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367840.4",
"protein_coding": true,
"protein_id": "NP_001185885.1",
"strand": true,
"transcript": "NM_001198956.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 951,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3486,
"cdna_start": null,
"cds_end": null,
"cds_length": 2856,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367840.4",
"gene_hgnc_id": 30002,
"gene_symbol": "DCAF6",
"hgvs_c": "c.438+5185G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001198956.2",
"protein_coding": true,
"protein_id": "ENSP00000356814.3",
"strand": true,
"transcript": "ENST00000367840.4",
"transcript_support_level": 1
},
{
"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": 3186,
"cdna_start": null,
"cds_end": null,
"cds_length": 2583,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000312263.10",
"gene_hgnc_id": 30002,
"gene_symbol": "DCAF6",
"hgvs_c": "c.438+5185G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000311949.6",
"strand": true,
"transcript": "ENST00000312263.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 950,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3468,
"cdna_start": null,
"cds_end": null,
"cds_length": 2853,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856062.1",
"gene_hgnc_id": 30002,
"gene_symbol": "DCAF6",
"hgvs_c": "c.438+5185G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526121.1",
"strand": true,
"transcript": "ENST00000856062.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 950,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3500,
"cdna_start": null,
"cds_end": null,
"cds_length": 2853,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000943261.1",
"gene_hgnc_id": 30002,
"gene_symbol": "DCAF6",
"hgvs_c": "c.438+5185G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613320.1",
"strand": true,
"transcript": "ENST00000943261.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 950,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3088,
"cdna_start": null,
"cds_end": null,
"cds_length": 2853,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000943278.1",
"gene_hgnc_id": 30002,
"gene_symbol": "DCAF6",
"hgvs_c": "c.438+5185G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613337.1",
"strand": true,
"transcript": "ENST00000943278.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 949,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3481,
"cdna_start": null,
"cds_end": null,
"cds_length": 2850,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000943266.1",
"gene_hgnc_id": 30002,
"gene_symbol": "DCAF6",
"hgvs_c": "c.438+5185G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613325.1",
"strand": true,
"transcript": "ENST00000943266.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 948,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3520,
"cdna_start": null,
"cds_end": null,
"cds_length": 2847,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000943255.1",
"gene_hgnc_id": 30002,
"gene_symbol": "DCAF6",
"hgvs_c": "c.438+5185G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613314.1",
"strand": true,
"transcript": "ENST00000943255.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 943,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3493,
"cdna_start": null,
"cds_end": null,
"cds_length": 2832,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856044.1",
"gene_hgnc_id": 30002,
"gene_symbol": "DCAF6",
"hgvs_c": "c.438+5185G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526103.1",
"strand": true,
"transcript": "ENST00000856044.1",
"transcript_support_level": null
},
{
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"aa_length": 937,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3444,
"cdna_start": null,
"cds_end": null,
"cds_length": 2814,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349773.2",
"gene_hgnc_id": 30002,
"gene_symbol": "DCAF6",
"hgvs_c": "c.438+5185G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336702.1",
"strand": true,
"transcript": "NM_001349773.2",
"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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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856039.1",
"gene_hgnc_id": 30002,
"gene_symbol": "DCAF6",
"hgvs_c": "c.438+5185G>A",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526098.1",
"strand": true,
"transcript": "ENST00000856039.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000856049.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000526108.1",
"strand": true,
"transcript": "ENST00000856049.1",
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},
{
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],
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"feature": "ENST00000943254.1",
"gene_hgnc_id": 30002,
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"hgvs_c": "c.438+5185G>A",
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"protein_coding": true,
"protein_id": "ENSP00000613313.1",
"strand": true,
"transcript": "ENST00000943254.1",
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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": 21,
"exon_rank": null,
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"feature": "ENST00000943257.1",
"gene_hgnc_id": 30002,
"gene_symbol": "DCAF6",
"hgvs_c": "c.438+5185G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000613316.1",
"strand": true,
"transcript": "ENST00000943257.1",
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},
{
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],
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"feature": "ENST00000943262.1",
"gene_hgnc_id": 30002,
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"hgvs_c": "c.438+5185G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000613321.1",
"strand": true,
"transcript": "ENST00000943262.1",
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},
{
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"consequences": [
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],
"exon_count": 21,
"exon_rank": null,
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"feature": "ENST00000856067.1",
"gene_hgnc_id": 30002,
"gene_symbol": "DCAF6",
"hgvs_c": "c.438+5185G>A",
"hgvs_p": null,
"intron_rank": 4,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000526126.1",
"strand": true,
"transcript": "ENST00000856067.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3397,
"cdna_start": null,
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"cds_length": 2790,
"cds_start": null,
"consequences": [
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],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856070.1",
"gene_hgnc_id": 30002,
"gene_symbol": "DCAF6",
"hgvs_c": "c.438+5185G>A",
"hgvs_p": null,
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"protein_coding": true,
"protein_id": "ENSP00000526129.1",
"strand": true,
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},
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"consequences": [
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],
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"feature": "ENST00000943259.1",
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"strand": true,
"transcript": "ENST00000943259.1",
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},
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],
"exon_count": 21,
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"feature": "NM_001198957.2",
"gene_hgnc_id": 30002,
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"hgvs_c": "c.345+5185G>A",
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"protein_id": "NP_001185886.1",
"strand": true,
"transcript": "NM_001198957.2",
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},
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
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"feature": "ENST00000432587.6",
"gene_hgnc_id": 30002,
"gene_symbol": "DCAF6",
"hgvs_c": "c.345+5185G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000396238.2",
"strand": true,
"transcript": "ENST00000432587.6",
"transcript_support_level": 2
},
{
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"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3364,
"cdna_start": null,
"cds_end": null,
"cds_length": 2754,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856069.1",
"gene_hgnc_id": 30002,
"gene_symbol": "DCAF6",
"hgvs_c": "c.438+5185G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526128.1",
"strand": true,
"transcript": "ENST00000856069.1",
"transcript_support_level": null
},
{
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