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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: 22-29225488-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=29225488&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 29225488,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000334018.11",
"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": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "EMID1",
"gene_hgnc_id": 18036,
"hgvs_c": "c.403+272C>T",
"hgvs_p": null,
"transcript": "NM_133455.4",
"protein_id": "NP_597712.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": -4,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2128,
"mane_select": "ENST00000334018.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "EMID1",
"gene_hgnc_id": 18036,
"hgvs_c": "c.403+272C>T",
"hgvs_p": null,
"transcript": "ENST00000334018.11",
"protein_id": "ENSP00000335481.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": -4,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2128,
"mane_select": "NM_133455.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "EMID1",
"gene_hgnc_id": 18036,
"hgvs_c": "c.403+272C>T",
"hgvs_p": null,
"transcript": "NM_001410828.1",
"protein_id": "NP_001397757.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 445,
"cds_start": -4,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "EMID1",
"gene_hgnc_id": 18036,
"hgvs_c": "c.403+272C>T",
"hgvs_p": null,
"transcript": "ENST00000404820.7",
"protein_id": "ENSP00000384452.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 445,
"cds_start": -4,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "EMID1",
"gene_hgnc_id": 18036,
"hgvs_c": "c.397+272C>T",
"hgvs_p": null,
"transcript": "NM_001267895.2",
"protein_id": "NP_001254824.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 441,
"cds_start": -4,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "EMID1",
"gene_hgnc_id": 18036,
"hgvs_c": "c.403+272C>T",
"hgvs_p": null,
"transcript": "ENST00000404755.7",
"protein_id": "ENSP00000385414.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 422,
"cds_start": -4,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "EMID1",
"gene_hgnc_id": 18036,
"hgvs_c": "c.403+272C>T",
"hgvs_p": null,
"transcript": "ENST00000429226.5",
"protein_id": "ENSP00000403816.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 211,
"cds_start": -4,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
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"cdna_length": 769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EMID1",
"gene_hgnc_id": 18036,
"hgvs_c": "c.320-1002C>T",
"hgvs_p": null,
"transcript": "ENST00000430127.1",
"protein_id": "ENSP00000399760.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 174,
"cds_start": -4,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EMID1",
"gene_hgnc_id": 18036,
"hgvs_c": "n.102-5532C>T",
"hgvs_p": null,
"transcript": "ENST00000435427.5",
"protein_id": "ENSP00000402621.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EMID1",
"gene_hgnc_id": 18036,
"hgvs_c": "n.138+272C>T",
"hgvs_p": null,
"transcript": "ENST00000484039.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 770,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 4,
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"gene_symbol": "EMID1",
"gene_hgnc_id": 18036,
"hgvs_c": "c.403+272C>T",
"hgvs_p": null,
"transcript": "XM_011529868.4",
"protein_id": "XP_011528170.1",
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "EMID1",
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},
{
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],
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"gene_symbol": "EMID1",
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},
{
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],
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"gene_symbol": "EMID1",
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"hgvs_c": "c.320-1002C>T",
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},
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],
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},
{
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],
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"gene_symbol": "EMID1",
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},
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},
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],
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"gene_symbol": "EMID1",
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"hgvs_c": "c.403+272C>T",
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},
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],
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"intron_rank": 3,
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"gene_symbol": "EMID1",
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],
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],
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},
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],
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"gene_symbol": "EMID1",
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"hgvs_c": "c.320-1002C>T",
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},
{
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],
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EMID1",
"gene_hgnc_id": 18036,
"hgvs_c": "c.1-5532C>T",
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},
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},
{
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{
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],
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"gnomad_genomes_af": 0.962357,
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"gnomad_genomes_ac": 146592,
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"computational_score_selected": -0.8500000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.022,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"acmg_score": -12,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000334018.11",
"gene_symbol": "EMID1",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": -12,
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"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_001755481.2",
"gene_symbol": "LOC105372985",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.100+243G>A",
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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
}