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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: 3-51114368-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=51114368&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 51114368,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_004947.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.746+23984G>C",
"hgvs_p": null,
"transcript": "NM_004947.5",
"protein_id": "NP_004938.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2030,
"cds_start": null,
"cds_end": null,
"cds_length": 6093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9069,
"mane_select": "ENST00000266037.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004947.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.746+23984G>C",
"hgvs_p": null,
"transcript": "ENST00000266037.10",
"protein_id": "ENSP00000266037.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2030,
"cds_start": null,
"cds_end": null,
"cds_length": 6093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9069,
"mane_select": "NM_004947.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000266037.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.746+23984G>C",
"hgvs_p": null,
"transcript": "ENST00000945458.1",
"protein_id": "ENSP00000615517.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2013,
"cds_start": null,
"cds_end": null,
"cds_length": 6042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8998,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945458.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.746+23984G>C",
"hgvs_p": null,
"transcript": "ENST00000924010.1",
"protein_id": "ENSP00000594069.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1853,
"cds_start": null,
"cds_end": null,
"cds_length": 5562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8103,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924010.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.746+23984G>C",
"hgvs_p": null,
"transcript": "XM_005264914.4",
"protein_id": "XP_005264971.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2071,
"cds_start": null,
"cds_end": null,
"cds_length": 6216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9192,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264914.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.746+23984G>C",
"hgvs_p": null,
"transcript": "XM_005264915.4",
"protein_id": "XP_005264972.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2065,
"cds_start": null,
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"cds_length": 6198,
"cdna_start": null,
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"cdna_length": 9174,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264915.4"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.746+23984G>C",
"hgvs_p": null,
"transcript": "XM_005264916.5",
"protein_id": "XP_005264973.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 2062,
"cds_start": null,
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"cds_length": 6189,
"cdna_start": null,
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"cdna_length": 9165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264916.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.746+23984G>C",
"hgvs_p": null,
"transcript": "XM_005264917.4",
"protein_id": "XP_005264974.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2057,
"cds_start": null,
"cds_end": null,
"cds_length": 6174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9150,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264917.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.746+23984G>C",
"hgvs_p": null,
"transcript": "XM_006713008.4",
"protein_id": "XP_006713071.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"gene_symbol": "DOCK3",
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"hgvs_c": "c.746+23984G>C",
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"transcript": "XM_047447595.1",
"protein_id": "XP_047303551.1",
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},
{
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],
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"gene_symbol": "DOCK3",
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"transcript": "XM_006713009.4",
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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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},
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],
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},
{
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},
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],
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"gene_symbol": "DOCK3",
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},
{
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],
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"gene_symbol": "DOCK3",
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"hgvs_c": "c.746+23984G>C",
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"transcript": "XM_047447600.1",
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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": "XM_047447603.1"
},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "DOCK3",
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"hgvs_c": "c.392+23984G>C",
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"transcript": "XM_047447605.1",
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},
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{
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{
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],
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"computational_score_selected": -0.9399999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.94,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.32,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -2,
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"acmg_by_gene": [
{
"score": -2,
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_004947.5",
"gene_symbol": "DOCK3",
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"effects": [
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"inheritance_mode": "AD,AR",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}