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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: 16-489140-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=489140&ref=C&alt=A&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": "RAB11FIP3",
"hgnc_id": 17224,
"hgvs_c": "c.1265+140C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001370401.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 620813,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.99,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9900000095367432,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 756,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4801,
"cdna_start": null,
"cds_end": null,
"cds_length": 2271,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014700.4",
"gene_hgnc_id": 17224,
"gene_symbol": "RAB11FIP3",
"hgvs_c": "c.1265+140C>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262305.9",
"protein_coding": true,
"protein_id": "NP_055515.1",
"strand": true,
"transcript": "NM_014700.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 756,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4801,
"cdna_start": null,
"cds_end": null,
"cds_length": 2271,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000262305.9",
"gene_hgnc_id": 17224,
"gene_symbol": "RAB11FIP3",
"hgvs_c": "c.1265+140C>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014700.4",
"protein_coding": true,
"protein_id": "ENSP00000262305.4",
"strand": true,
"transcript": "ENST00000262305.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 853,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4579,
"cdna_start": null,
"cds_end": null,
"cds_length": 2562,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941645.1",
"gene_hgnc_id": 17224,
"gene_symbol": "RAB11FIP3",
"hgvs_c": "c.1265+140C>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611704.1",
"strand": true,
"transcript": "ENST00000941645.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 848,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4550,
"cdna_start": null,
"cds_end": null,
"cds_length": 2547,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941647.1",
"gene_hgnc_id": 17224,
"gene_symbol": "RAB11FIP3",
"hgvs_c": "c.1406+140C>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611706.1",
"strand": true,
"transcript": "ENST00000941647.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 808,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4483,
"cdna_start": null,
"cds_end": null,
"cds_length": 2427,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941639.1",
"gene_hgnc_id": 17224,
"gene_symbol": "RAB11FIP3",
"hgvs_c": "c.1265+140C>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611698.1",
"strand": true,
"transcript": "ENST00000941639.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 801,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4936,
"cdna_start": null,
"cds_end": null,
"cds_length": 2406,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001370401.1",
"gene_hgnc_id": 17224,
"gene_symbol": "RAB11FIP3",
"hgvs_c": "c.1265+140C>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357330.1",
"strand": true,
"transcript": "NM_001370401.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 801,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3922,
"cdna_start": null,
"cds_end": null,
"cds_length": 2406,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000434585.6",
"gene_hgnc_id": 17224,
"gene_symbol": "RAB11FIP3",
"hgvs_c": "c.1265+140C>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399644.2",
"strand": true,
"transcript": "ENST00000434585.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 800,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4950,
"cdna_start": null,
"cds_end": null,
"cds_length": 2403,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941638.1",
"gene_hgnc_id": 17224,
"gene_symbol": "RAB11FIP3",
"hgvs_c": "c.1265+140C>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611697.1",
"strand": true,
"transcript": "ENST00000941638.1",
"transcript_support_level": null
},
{
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"aa_length": 795,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4412,
"cdna_start": null,
"cds_end": null,
"cds_length": 2388,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941644.1",
"gene_hgnc_id": 17224,
"gene_symbol": "RAB11FIP3",
"hgvs_c": "c.1265+140C>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611703.1",
"strand": true,
"transcript": "ENST00000941644.1",
"transcript_support_level": null
},
{
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"canonical": false,
"cdna_end": null,
"cdna_length": 4111,
"cdna_start": null,
"cds_end": null,
"cds_length": 2292,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941648.1",
"gene_hgnc_id": 17224,
"gene_symbol": "RAB11FIP3",
"hgvs_c": "c.1265+140C>A",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000611707.1",
"strand": true,
"transcript": "ENST00000941648.1",
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},
{
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 14,
"exon_rank": null,
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"feature": "ENST00000918303.1",
"gene_hgnc_id": 17224,
"gene_symbol": "RAB11FIP3",
"hgvs_c": "c.1265+140C>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000588362.1",
"strand": true,
"transcript": "ENST00000918303.1",
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},
{
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000941642.1",
"gene_hgnc_id": 17224,
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"mane_plus": null,
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"protein_id": "ENSP00000611701.1",
"strand": true,
"transcript": "ENST00000941642.1",
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},
{
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],
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"feature": "ENST00000941640.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000611699.1",
"strand": true,
"transcript": "ENST00000941640.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 14,
"exon_rank": null,
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"feature": "ENST00000941641.1",
"gene_hgnc_id": 17224,
"gene_symbol": "RAB11FIP3",
"hgvs_c": "c.1265+140C>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000611700.1",
"strand": true,
"transcript": "ENST00000941641.1",
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},
{
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],
"exon_count": 13,
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"feature": "ENST00000918302.1",
"gene_hgnc_id": 17224,
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"hgvs_c": "c.1265+140C>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000588361.1",
"strand": true,
"transcript": "ENST00000918302.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 13,
"exon_rank": null,
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"feature": "ENST00000941646.1",
"gene_hgnc_id": 17224,
"gene_symbol": "RAB11FIP3",
"hgvs_c": "c.1076+140C>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000611705.1",
"strand": true,
"transcript": "ENST00000941646.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 13,
"exon_rank": null,
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"feature": "ENST00000941643.1",
"gene_hgnc_id": 17224,
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"hgvs_c": "c.1265+140C>A",
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},
{
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],
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"feature": "ENST00000918304.1",
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"protein_id": "ENSP00000588363.1",
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},
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],
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"feature": "ENST00000450428.5",
"gene_hgnc_id": 17224,
"gene_symbol": "RAB11FIP3",
"hgvs_c": "c.377+140C>A",
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},
{
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001142272.2",
"gene_hgnc_id": 17224,
"gene_symbol": "RAB11FIP3",
"hgvs_c": "c.335+140C>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001135744.2",
"strand": true,
"transcript": "NM_001142272.2",
"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": 547,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000452814.5",
"gene_hgnc_id": 17224,
"gene_symbol": "RAB11FIP3",
"hgvs_c": "c.335+140C>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000399614.1",
"strand": true,
"transcript": "ENST00000452814.5",
"transcript_support_level": 5
},
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