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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: 5-77129124-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=77129124&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 77129124,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000646262.1",
"consequences": [
{
"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": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PDE8B",
"gene_hgnc_id": null,
"hgvs_c": "c.-34+10603G>A",
"hgvs_p": null,
"transcript": "ENST00000646262.1",
"protein_id": "ENSP00000493971.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 761,
"cds_start": -4,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3397,
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZBED3-AS1",
"gene_hgnc_id": 44188,
"hgvs_c": "n.625-5181G>A",
"hgvs_p": null,
"transcript": "ENST00000514905.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285000",
"gene_hgnc_id": null,
"hgvs_c": "n.*85+10603G>A",
"hgvs_p": null,
"transcript": "ENST00000646704.1",
"protein_id": "ENSP00000495089.1",
"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": 2348,
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PDE8B",
"gene_hgnc_id": 8794,
"hgvs_c": "c.-34+10603G>A",
"hgvs_p": null,
"transcript": "NM_001414622.1",
"protein_id": "NP_001401551.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 761,
"cds_start": -4,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5128,
"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": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PDE8B",
"gene_hgnc_id": 8794,
"hgvs_c": "c.-34+10603G>A",
"hgvs_p": null,
"transcript": "NM_001414623.1",
"protein_id": "NP_001401552.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 761,
"cds_start": -4,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4546,
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZBED3-AS1",
"gene_hgnc_id": 44188,
"hgvs_c": "n.567-10137G>A",
"hgvs_p": null,
"transcript": "ENST00000502433.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 609,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "ZBED3-AS1",
"gene_hgnc_id": 44188,
"hgvs_c": "n.500+10603G>A",
"hgvs_p": null,
"transcript": "ENST00000503969.6",
"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": 1373,
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZBED3-AS1",
"gene_hgnc_id": 44188,
"hgvs_c": "n.586-1967G>A",
"hgvs_p": null,
"transcript": "ENST00000504506.5",
"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": 702,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZBED3-AS1",
"gene_hgnc_id": 44188,
"hgvs_c": "n.391-10137G>A",
"hgvs_p": null,
"transcript": "ENST00000507749.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 540,
"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,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "ZBED3-AS1",
"gene_hgnc_id": 44188,
"hgvs_c": "n.200+10603G>A",
"hgvs_p": null,
"transcript": "ENST00000508401.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "ZBED3-AS1",
"gene_hgnc_id": 44188,
"hgvs_c": "n.808+10603G>A",
"hgvs_p": null,
"transcript": "ENST00000512001.6",
"protein_id": null,
"transcript_support_level": 3,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"gene_symbol": "ZBED3-AS1",
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"hgvs_c": "n.203-10142G>A",
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"transcript": "ENST00000513406.1",
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},
{
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"strand": true,
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],
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"hgvs_c": "n.865+10603G>A",
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"transcript": "ENST00000513591.5",
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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": "ZBED3-AS1",
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},
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],
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},
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],
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"hgvs_c": "n.611-10137G>A",
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],
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],
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],
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},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "ZBED3-AS1",
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"hgvs_c": "n.810-10137G>A",
"hgvs_p": null,
"transcript": "ENST00000643974.1",
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},
{
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],
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"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000514905.5",
"gene_symbol": "ZBED3-AS1",
"hgnc_id": 44188,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.625-5181G>A",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_007058826.1",
"gene_symbol": "LOC124901008",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.150+696C>T",
"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
}