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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: 8-37592483-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=37592483&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 37592483,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000517363.2",
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LINC01605",
"gene_hgnc_id": 51654,
"hgvs_c": "n.34+6578A>T",
"hgvs_p": null,
"transcript": "ENST00000517363.2",
"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": 1450,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LINC01605",
"gene_hgnc_id": 51654,
"hgvs_c": "n.338+6578A>T",
"hgvs_p": null,
"transcript": "ENST00000783999.1",
"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": 1282,
"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": "LINC01605",
"gene_hgnc_id": 51654,
"hgvs_c": "n.34+6578A>T",
"hgvs_p": null,
"transcript": "ENST00000784000.1",
"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": 1337,
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LINC01605",
"gene_hgnc_id": 51654,
"hgvs_c": "n.96+6578A>T",
"hgvs_p": null,
"transcript": "ENST00000784001.1",
"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": 1601,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LINC01605",
"gene_hgnc_id": 51654,
"hgvs_c": "n.101+6578A>T",
"hgvs_p": null,
"transcript": "ENST00000784002.1",
"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": 1912,
"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": "LINC01605",
"gene_hgnc_id": 51654,
"hgvs_c": "n.88+6578A>T",
"hgvs_p": null,
"transcript": "ENST00000784003.1",
"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": 798,
"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": "LINC01605",
"gene_hgnc_id": 51654,
"hgvs_c": "n.83+6578A>T",
"hgvs_p": null,
"transcript": "ENST00000784004.1",
"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,
"cdna_end": null,
"cdna_length": 1137,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LINC01605",
"gene_hgnc_id": 51654,
"hgvs_c": "n.64+6578A>T",
"hgvs_p": null,
"transcript": "ENST00000784005.1",
"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": 1520,
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LINC01605",
"gene_hgnc_id": 51654,
"hgvs_c": "n.51+6578A>T",
"hgvs_p": null,
"transcript": "ENST00000784006.1",
"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": 1840,
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LINC01605",
"gene_hgnc_id": 51654,
"hgvs_c": "n.46+6578A>T",
"hgvs_p": null,
"transcript": "ENST00000784007.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
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"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": 8,
"intron_rank": 1,
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"gene_symbol": "LINC01605",
"gene_hgnc_id": 51654,
"hgvs_c": "n.34+6578A>T",
"hgvs_p": null,
"transcript": "ENST00000784008.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 1,
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"gene_symbol": "LINC01605",
"gene_hgnc_id": 51654,
"hgvs_c": "n.33+6578A>T",
"hgvs_p": null,
"transcript": "ENST00000784009.1",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "LINC01605",
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"hgvs_c": "n.34+6578A>T",
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"transcript": "ENST00000784010.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "LINC01605",
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"hgvs_c": "n.34+6578A>T",
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},
{
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],
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "LINC01605",
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"hgvs_c": "n.33+6578A>T",
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},
{
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],
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},
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],
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"gene_symbol": "LINC01605",
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"hgvs_c": "n.34+6578A>T",
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},
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 1,
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"gene_symbol": "LINC01605",
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"hgvs_c": "n.33+6578A>T",
"hgvs_p": null,
"transcript": "ENST00000784016.1",
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},
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],
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},
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],
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"intron_rank": 1,
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},
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],
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "LINC01605",
"gene_hgnc_id": 51654,
"hgvs_c": "n.243+6649A>T",
"hgvs_p": null,
"transcript": "ENST00000784020.1",
"protein_id": null,
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"aa_start": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "LINC01605",
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"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000517363.2",
"gene_symbol": "LINC01605",
"hgnc_id": 51654,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.34+6578A>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
}