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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: 1-81946916-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=81946916&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 81946916,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000686636.1",
"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": 24,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ADGRL2",
"gene_hgnc_id": 18582,
"hgvs_c": "c.1210+3147G>A",
"hgvs_p": null,
"transcript": "NM_001366006.2",
"protein_id": "NP_001352935.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1469,
"cds_start": -4,
"cds_end": null,
"cds_length": 4410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7432,
"mane_select": "ENST00000686636.1",
"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": 24,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ADGRL2",
"gene_hgnc_id": 18582,
"hgvs_c": "c.1210+3147G>A",
"hgvs_p": null,
"transcript": "ENST00000686636.1",
"protein_id": "ENSP00000509478.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1469,
"cds_start": -4,
"cds_end": null,
"cds_length": 4410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7432,
"mane_select": "NM_001366006.2",
"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": 26,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ADGRL2",
"gene_hgnc_id": 18582,
"hgvs_c": "c.1198+3147G>A",
"hgvs_p": null,
"transcript": "ENST00000370725.5",
"protein_id": "ENSP00000359760.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1474,
"cds_start": -4,
"cds_end": null,
"cds_length": 4425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5293,
"mane_select": null,
"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": 25,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ADGRL2",
"gene_hgnc_id": 18582,
"hgvs_c": "c.1198+3147G>A",
"hgvs_p": null,
"transcript": "ENST00000370723.5",
"protein_id": "ENSP00000359758.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1461,
"cds_start": -4,
"cds_end": null,
"cds_length": 4386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5254,
"mane_select": null,
"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": 25,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ADGRL2",
"gene_hgnc_id": 18582,
"hgvs_c": "c.1198+3147G>A",
"hgvs_p": null,
"transcript": "ENST00000370728.5",
"protein_id": "ENSP00000359763.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1459,
"cds_start": -4,
"cds_end": null,
"cds_length": 4380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6302,
"mane_select": null,
"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": 25,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ADGRL2",
"gene_hgnc_id": 18582,
"hgvs_c": "c.1198+3147G>A",
"hgvs_p": null,
"transcript": "ENST00000370727.5",
"protein_id": "ENSP00000359762.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1431,
"cds_start": -4,
"cds_end": null,
"cds_length": 4296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5164,
"mane_select": null,
"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": 24,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ADGRL2",
"gene_hgnc_id": 18582,
"hgvs_c": "c.1198+3147G>A",
"hgvs_p": null,
"transcript": "ENST00000370730.5",
"protein_id": "ENSP00000359765.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1416,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 6173,
"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": 20,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ADGRL2",
"gene_hgnc_id": 18582,
"hgvs_c": "c.1198+3147G>A",
"hgvs_p": null,
"transcript": "ENST00000319517.10",
"protein_id": "ENSP00000322270.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1403,
"cds_start": -4,
"cds_end": null,
"cds_length": 4212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5479,
"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": 21,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ADGRL2",
"gene_hgnc_id": 18582,
"hgvs_c": "c.1198+3147G>A",
"hgvs_p": null,
"transcript": "ENST00000359929.7",
"protein_id": "ENSP00000353006.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1403,
"cds_start": -4,
"cds_end": null,
"cds_length": 4212,
"cdna_start": null,
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"cdna_length": 4674,
"mane_select": null,
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"feature": null
},
{
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"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ADGRL2",
"gene_hgnc_id": 18582,
"hgvs_c": "c.1210+3147G>A",
"hgvs_p": null,
"transcript": "ENST00000370721.5",
"protein_id": "ENSP00000359756.1",
"transcript_support_level": 5,
"aa_start": null,
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"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": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 5,
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"gene_symbol": "ADGRL2",
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"hgvs_c": "c.1198+3147G>A",
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"transcript": "ENST00000370715.5",
"protein_id": "ENSP00000359750.1",
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},
{
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],
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"gene_symbol": "ADGRL2",
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},
{
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"strand": true,
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],
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"gene_symbol": "ADGRL2",
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"hgvs_c": "c.1198+3147G>A",
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"transcript": "ENST00000674307.1",
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},
{
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],
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"gene_symbol": "ADGRL2",
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"hgvs_c": "c.1210+3147G>A",
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"transcript": "NM_001366005.2",
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},
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],
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"gene_symbol": "ADGRL2",
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"hgvs_c": "c.1210+3147G>A",
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"transcript": "NM_001350698.2",
"protein_id": "NP_001337627.1",
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},
{
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],
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"gene_symbol": "ADGRL2",
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"hgvs_c": "c.1210+3147G>A",
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"transcript": "NM_001366003.2",
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],
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"gene_symbol": "ADGRL2",
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"hgvs_c": "c.1210+3147G>A",
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"transcript": "NM_001366004.2",
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},
{
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],
"exon_rank": null,
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"exon_count": 26,
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"gene_symbol": "ADGRL2",
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"hgvs_c": "c.1210+3147G>A",
"hgvs_p": null,
"transcript": "NM_001393349.1",
"protein_id": "NP_001380278.1",
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},
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],
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"gene_symbol": "ADGRL2",
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],
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},
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"consequences": [
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],
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"intron_rank": 5,
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"gene_symbol": "ADGRL2",
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"hgvs_c": "c.1198+3147G>A",
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"transcript": "NM_001437666.1",
"protein_id": "NP_001424595.1",
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},
{
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],
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"exon_count": 21,
"intron_rank": 5,
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"gene_symbol": "ADGRL2",
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"hgvs_c": "c.1198+3147G>A",
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"transcript": "ENST00000674209.1",
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"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}