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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: 18-1287909-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=1287909&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 1287909,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000577403.6",
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LINC00470",
"gene_hgnc_id": 1225,
"hgvs_c": "n.204-9276T>A",
"hgvs_p": null,
"transcript": "ENST00000577403.6",
"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": 778,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "LINC00470",
"gene_hgnc_id": 1225,
"hgvs_c": "n.300-15398T>A",
"hgvs_p": null,
"transcript": "ENST00000577867.5",
"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": 1211,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "LINC00470",
"gene_hgnc_id": 1225,
"hgvs_c": "n.335-11832T>A",
"hgvs_p": null,
"transcript": "ENST00000581212.1",
"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": 721,
"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": "LINC00470",
"gene_hgnc_id": 1225,
"hgvs_c": "n.503-9276T>A",
"hgvs_p": null,
"transcript": "ENST00000582862.6",
"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": 1238,
"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": "LINC00470",
"gene_hgnc_id": 1225,
"hgvs_c": "n.89-9276T>A",
"hgvs_p": null,
"transcript": "ENST00000584090.5",
"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": 1334,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "LINC00470",
"gene_hgnc_id": 1225,
"hgvs_c": "n.240-11822T>A",
"hgvs_p": null,
"transcript": "ENST00000584492.5",
"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": 1281,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "LINC00470",
"gene_hgnc_id": 1225,
"hgvs_c": "n.374-11832T>A",
"hgvs_p": null,
"transcript": "ENST00000412816.8",
"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": 2097,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "LINC00470",
"gene_hgnc_id": 1225,
"hgvs_c": "n.207-11832T>A",
"hgvs_p": null,
"transcript": "ENST00000578835.5",
"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": 674,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "LINC00470",
"gene_hgnc_id": 1225,
"hgvs_c": "n.366-15398T>A",
"hgvs_p": null,
"transcript": "ENST00000581430.6",
"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": 764,
"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": "LINC00470",
"gene_hgnc_id": 1225,
"hgvs_c": "n.340-9276T>A",
"hgvs_p": null,
"transcript": "ENST00000653213.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1087,
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LINC00470",
"gene_hgnc_id": 1225,
"hgvs_c": "n.458-11832T>A",
"hgvs_p": null,
"transcript": "ENST00000653775.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": 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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LINC00470",
"gene_hgnc_id": 1225,
"hgvs_c": "n.709-11832T>A",
"hgvs_p": null,
"transcript": "ENST00000654559.1",
"protein_id": 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": 9,
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"gene_symbol": "LINC00470",
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"hgvs_c": "n.1006-11832T>A",
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"transcript": "ENST00000655957.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 3,
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"gene_symbol": "LINC00470",
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"hgvs_c": "n.351-11832T>A",
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"cds_start": -4,
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},
{
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],
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"gene_symbol": "LINC00470",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 4,
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"gene_symbol": "LINC00470",
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"hgvs_c": "n.320-11832T>A",
"hgvs_p": null,
"transcript": "ENST00000657618.1",
"protein_id": null,
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},
{
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],
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},
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],
"exon_rank": null,
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"gene_symbol": "LINC00470",
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"hgvs_c": "n.464-9258T>A",
"hgvs_p": null,
"transcript": "ENST00000659094.1",
"protein_id": null,
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LINC00470",
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"hgvs_c": "n.545-11832T>A",
"hgvs_p": null,
"transcript": "ENST00000659289.1",
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},
{
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],
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"gene_symbol": "LINC00470",
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},
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],
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},
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],
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LINC00470",
"gene_hgnc_id": 1225,
"hgvs_c": "n.433-9276T>A",
"hgvs_p": null,
"transcript": "ENST00000660964.1",
"protein_id": null,
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"aa_start": null,
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"mane_select": null,
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"biotype": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LINC00470",
"gene_hgnc_id": 1225,
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"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000577403.6",
"gene_symbol": "LINC00470",
"hgnc_id": 1225,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.204-9276T>A",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000670380.1",
"gene_symbol": "ENSG00000263551",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.954+16074A>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
}