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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: 8-100944649-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=100944649&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 100944649,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000395958.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "YWHAZ",
"gene_hgnc_id": 12855,
"hgvs_c": "c.294+3947G>A",
"hgvs_p": null,
"transcript": "NM_145690.3",
"protein_id": "NP_663723.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": -4,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5011,
"mane_select": "ENST00000395958.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "YWHAZ",
"gene_hgnc_id": 12855,
"hgvs_c": "c.294+3947G>A",
"hgvs_p": null,
"transcript": "ENST00000395958.6",
"protein_id": "ENSP00000379288.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": -4,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5011,
"mane_select": "NM_145690.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "YWHAZ",
"gene_hgnc_id": 12855,
"hgvs_c": "c.294+3947G>A",
"hgvs_p": null,
"transcript": "ENST00000353245.7",
"protein_id": "ENSP00000309503.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": -4,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "YWHAZ",
"gene_hgnc_id": 12855,
"hgvs_c": "c.294+3947G>A",
"hgvs_p": null,
"transcript": "ENST00000395956.7",
"protein_id": "ENSP00000379286.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": -4,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "YWHAZ",
"gene_hgnc_id": 12855,
"hgvs_c": "c.294+3947G>A",
"hgvs_p": null,
"transcript": "ENST00000521607.5",
"protein_id": "ENSP00000430058.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": -4,
"cds_end": null,
"cds_length": 739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "YWHAZ",
"gene_hgnc_id": 12855,
"hgvs_c": "c.294+3947G>A",
"hgvs_p": null,
"transcript": "NM_001135699.2",
"protein_id": "NP_001129171.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": -4,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "YWHAZ",
"gene_hgnc_id": 12855,
"hgvs_c": "c.294+3947G>A",
"hgvs_p": null,
"transcript": "NM_001135700.2",
"protein_id": "NP_001129172.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": -4,
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"cds_length": 738,
"cdna_start": null,
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"cdna_length": 4997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "YWHAZ",
"gene_hgnc_id": 12855,
"hgvs_c": "c.294+3947G>A",
"hgvs_p": null,
"transcript": "NM_001135701.2",
"protein_id": "NP_001129173.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": -4,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "YWHAZ",
"gene_hgnc_id": 12855,
"hgvs_c": "c.294+3947G>A",
"hgvs_p": null,
"transcript": "NM_001135702.2",
"protein_id": "NP_001129174.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": -4,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
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"cdna_length": 5085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
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"gene_symbol": "YWHAZ",
"gene_hgnc_id": 12855,
"hgvs_c": "c.294+3947G>A",
"hgvs_p": null,
"transcript": "NM_003406.4",
"protein_id": "NP_003397.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
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"gene_symbol": "YWHAZ",
"gene_hgnc_id": 12855,
"hgvs_c": "c.294+3947G>A",
"hgvs_p": null,
"transcript": "ENST00000395951.7",
"protein_id": "ENSP00000379281.3",
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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": "YWHAZ",
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},
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],
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},
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],
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"gene_symbol": "YWHAZ",
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},
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],
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"transcript": "ENST00000395948.6",
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},
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],
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"gene_symbol": "YWHAZ",
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"hgvs_c": "c.294+3947G>A",
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"transcript": "ENST00000521328.5",
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},
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],
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"gene_symbol": "YWHAZ",
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"hgvs_c": "c.-67+7280G>A",
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},
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],
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},
{
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"protein_coding": true,
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"consequences": [
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],
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"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "YWHAZ",
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"hgvs_c": "c.294+3947G>A",
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"transcript": "XM_005251061.4",
"protein_id": "XP_005251118.1",
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},
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{
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{
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],
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"gnomad_exomes_af": null,
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"gnomad_genomes_ac": 6045,
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"computational_score_selected": -0.7799999713897705,
"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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"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.171,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": [
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000395958.6",
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"effects": [
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"inheritance_mode": "AD",
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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
}