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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: 17-47072043-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=47072043&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 47072043,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000573341.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000262879",
"gene_hgnc_id": 58690,
"hgvs_c": "n.203+429G>C",
"hgvs_p": null,
"transcript": "ENST00000572864.6",
"protein_id": null,
"transcript_support_level": 3,
"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": 375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000262879",
"gene_hgnc_id": 58690,
"hgvs_c": "n.502+429G>C",
"hgvs_p": null,
"transcript": "ENST00000573341.6",
"protein_id": null,
"transcript_support_level": 2,
"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": 5940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000262879",
"gene_hgnc_id": 58690,
"hgvs_c": "n.196-393G>C",
"hgvs_p": null,
"transcript": "ENST00000576938.2",
"protein_id": null,
"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": 409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000262879",
"gene_hgnc_id": 58690,
"hgvs_c": "n.36-15290G>C",
"hgvs_p": null,
"transcript": "ENST00000668245.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000262879",
"gene_hgnc_id": 58690,
"hgvs_c": "n.138-393G>C",
"hgvs_p": null,
"transcript": "ENST00000701385.2",
"protein_id": null,
"transcript_support_level": null,
"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": 343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000262879",
"gene_hgnc_id": 58690,
"hgvs_c": "n.61+27792G>C",
"hgvs_p": null,
"transcript": "ENST00000722913.1",
"protein_id": null,
"transcript_support_level": null,
"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": 601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000262879",
"gene_hgnc_id": 58690,
"hgvs_c": "n.62-15290G>C",
"hgvs_p": null,
"transcript": "ENST00000722914.1",
"protein_id": null,
"transcript_support_level": null,
"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": 917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000262879",
"gene_hgnc_id": 58690,
"hgvs_c": "n.64-15290G>C",
"hgvs_p": null,
"transcript": "ENST00000722915.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000262879",
"gene_hgnc_id": 58690,
"hgvs_c": "n.113+429G>C",
"hgvs_p": null,
"transcript": "ENST00000722919.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000262879",
"gene_hgnc_id": 58690,
"hgvs_c": "n.72-15290G>C",
"hgvs_p": null,
"transcript": "ENST00000722920.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 1565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000262879",
"gene_hgnc_id": 58690,
"hgvs_c": "n.63+27792G>C",
"hgvs_p": null,
"transcript": "ENST00000722921.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1006,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "ENSG00000262879",
"gene_hgnc_id": 58690,
"hgvs_c": "n.62-15290G>C",
"hgvs_p": null,
"transcript": "ENST00000722922.1",
"protein_id": null,
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"aa_start": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "ENSG00000262879",
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"hgvs_c": "n.62-15290G>C",
"hgvs_p": null,
"transcript": "ENST00000722923.1",
"protein_id": null,
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"cds_start": -4,
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 4,
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"gene_symbol": "ENSG00000262879",
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"hgvs_c": "n.62-15290G>C",
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"transcript": "ENST00000722924.1",
"protein_id": null,
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"cds_start": -4,
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},
{
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"strand": false,
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],
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"gene_symbol": "ENSG00000262879",
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"hgvs_c": "n.28+429G>C",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000262879",
"gene_hgnc_id": 58690,
"hgvs_c": "n.43-15290G>C",
"hgvs_p": null,
"transcript": "ENST00000722939.1",
"protein_id": null,
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},
{
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],
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"gene_symbol": "ENSG00000262879",
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "ENSG00000262879",
"gene_hgnc_id": 58690,
"hgvs_c": "n.62-15290G>C",
"hgvs_p": null,
"transcript": "ENST00000722950.1",
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},
{
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"strand": false,
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000262879",
"gene_hgnc_id": 58690,
"hgvs_c": "n.62-15290G>C",
"hgvs_p": null,
"transcript": "ENST00000722951.1",
"protein_id": null,
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},
{
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],
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "ENSG00000262879",
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"hgvs_c": "n.218-15290G>C",
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},
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],
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"gene_symbol": "ENSG00000262879",
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},
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],
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"gene_symbol": "ENSG00000262879",
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"hgvs_c": "n.149+429G>C",
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"transcript": "ENST00000722958.1",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000262879",
"gene_hgnc_id": 58690,
"hgvs_c": "n.251+429G>C",
"hgvs_p": null,
"transcript": "ENST00000722959.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
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"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000573341.6",
"gene_symbol": "ENSG00000262879",
"hgnc_id": 58690,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.502+429G>C",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000723449.1",
"gene_symbol": "ENSG00000294414",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.39-1070C>G",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XR_243711.6",
"gene_symbol": "LOC101927060",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.539+429G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}