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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: 4-61530685-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=61530685&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 61530685,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000683033.1",
"consequences": [
{
"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": 27,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.259+13167T>A",
"hgvs_p": null,
"transcript": "NM_001387552.1",
"protein_id": "NP_001374481.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1543,
"cds_start": -4,
"cds_end": null,
"cds_length": 4632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13738,
"mane_select": "ENST00000683033.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 27,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.259+13167T>A",
"hgvs_p": null,
"transcript": "ENST00000683033.1",
"protein_id": "ENSP00000507980.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1543,
"cds_start": -4,
"cds_end": null,
"cds_length": 4632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13738,
"mane_select": "NM_001387552.1",
"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": 26,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.55+33337T>A",
"hgvs_p": null,
"transcript": "ENST00000512091.6",
"protein_id": "ENSP00000423388.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1240,
"cds_start": -4,
"cds_end": null,
"cds_length": 3723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12636,
"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": 25,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.259+13167T>A",
"hgvs_p": null,
"transcript": "ENST00000506720.5",
"protein_id": "ENSP00000420931.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1580,
"cds_start": -4,
"cds_end": null,
"cds_length": 4743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4962,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.259+13167T>A",
"hgvs_p": null,
"transcript": "ENST00000506746.5",
"protein_id": "ENSP00000425884.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1571,
"cds_start": -4,
"cds_end": null,
"cds_length": 4716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4935,
"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": 26,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.259+13167T>A",
"hgvs_p": null,
"transcript": "NM_001322402.3",
"protein_id": "NP_001309331.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1537,
"cds_start": -4,
"cds_end": null,
"cds_length": 4614,
"cdna_start": null,
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"cdna_length": 13720,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"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": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.259+13167T>A",
"hgvs_p": null,
"transcript": "NM_001371344.2",
"protein_id": "NP_001358273.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.259+13167T>A",
"hgvs_p": null,
"transcript": "NM_001387522.1",
"protein_id": "NP_001374451.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1528,
"cds_start": -4,
"cds_end": null,
"cds_length": 4587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13693,
"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": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.259+13167T>A",
"hgvs_p": null,
"transcript": "ENST00000507625.5",
"protein_id": "ENSP00000421372.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 1528,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"consequences": [
"intron_variant"
],
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"gene_symbol": "ADGRL3",
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"hgvs_c": "c.259+13167T>A",
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"transcript": "NM_001387523.1",
"protein_id": "NP_001374452.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "ADGRL3",
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"hgvs_c": "c.259+13167T>A",
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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": "ADGRL3",
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},
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],
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],
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],
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"splice_prediction_selected": "Benign",
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{
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"BP4_Strong"
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"verdict": "Likely_benign",
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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
}