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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: 2-40168938-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=40168938&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 40168938,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000332839.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SLC8A1",
"gene_hgnc_id": 11068,
"hgvs_c": "c.2038+1343G>A",
"hgvs_p": null,
"transcript": "NM_021097.5",
"protein_id": "NP_066920.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 973,
"cds_start": -4,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 21116,
"mane_select": "ENST00000332839.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SLC8A1",
"gene_hgnc_id": 11068,
"hgvs_c": "c.2038+1343G>A",
"hgvs_p": null,
"transcript": "ENST00000332839.9",
"protein_id": "ENSP00000332931.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 973,
"cds_start": -4,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 21116,
"mane_select": "NM_021097.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SLC8A1",
"gene_hgnc_id": 11068,
"hgvs_c": "c.2038+1343G>A",
"hgvs_p": null,
"transcript": "ENST00000403092.5",
"protein_id": "ENSP00000384763.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 973,
"cds_start": -4,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC8A1",
"gene_hgnc_id": 11068,
"hgvs_c": "c.2023+1343G>A",
"hgvs_p": null,
"transcript": "ENST00000405901.7",
"protein_id": "ENSP00000385678.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 968,
"cds_start": -4,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC8A1",
"gene_hgnc_id": 11068,
"hgvs_c": "c.1955-3954G>A",
"hgvs_p": null,
"transcript": "ENST00000417271.2",
"protein_id": "ENSP00000412560.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 945,
"cds_start": -4,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC8A1",
"gene_hgnc_id": 11068,
"hgvs_c": "c.1931-3954G>A",
"hgvs_p": null,
"transcript": "ENST00000406391.2",
"protein_id": "ENSP00000385811.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 937,
"cds_start": -4,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SLC8A1",
"gene_hgnc_id": 11068,
"hgvs_c": "c.1931-3954G>A",
"hgvs_p": null,
"transcript": "ENST00000406785.7",
"protein_id": "ENSP00000383886.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 937,
"cds_start": -4,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 6002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SLC8A1",
"gene_hgnc_id": 11068,
"hgvs_c": "c.2038+1343G>A",
"hgvs_p": null,
"transcript": "NM_001372263.2",
"protein_id": "NP_001359192.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 973,
"cds_start": -4,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 21016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SLC8A1",
"gene_hgnc_id": 11068,
"hgvs_c": "c.2038+1343G>A",
"hgvs_p": null,
"transcript": "NM_001394103.1",
"protein_id": "NP_001381032.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 973,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 21202,
"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 6,
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"gene_symbol": "SLC8A1",
"gene_hgnc_id": 11068,
"hgvs_c": "c.2023+1343G>A",
"hgvs_p": null,
"transcript": "NM_001112800.4",
"protein_id": "NP_001106271.1",
"transcript_support_level": null,
"aa_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 6,
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"gene_symbol": "SLC8A1",
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"hgvs_c": "c.2023+1343G>A",
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"transcript": "NM_001394104.1",
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},
{
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],
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},
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],
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"gene_symbol": "SLC8A1",
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"hgvs_c": "c.2014+1343G>A",
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},
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],
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"gene_symbol": "SLC8A1",
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"gene_symbol": "SLC8A1",
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"hgvs_c": "c.2002+1343G>A",
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],
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},
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],
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"gene_symbol": "SLC8A1",
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],
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"gene_symbol": "SLC8A1",
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"transcript": "ENST00000705604.1",
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},
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],
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"gene_symbol": "SLC8A1",
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"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2038+1343G>A",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000435515.5",
"gene_symbol": "SLC8A1-AS1",
"hgnc_id": 44102,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.125+53785C>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
}