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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: 18-13357201-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=13357201&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 13357201,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000359446.11",
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LDLRAD4",
"gene_hgnc_id": 1224,
"hgvs_c": "c.-382-30140A>C",
"hgvs_p": null,
"transcript": "NM_001378100.1",
"protein_id": "NP_001365029.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 306,
"cds_start": -4,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8710,
"mane_select": "ENST00000359446.11",
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LDLRAD4",
"gene_hgnc_id": 1224,
"hgvs_c": "c.-382-30140A>C",
"hgvs_p": null,
"transcript": "ENST00000359446.11",
"protein_id": "ENSP00000352420.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 306,
"cds_start": -4,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8710,
"mane_select": "NM_001378100.1",
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LDLRAD4",
"gene_hgnc_id": 1224,
"hgvs_c": "c.-382-30140A>C",
"hgvs_p": null,
"transcript": "ENST00000399848.7",
"protein_id": "ENSP00000382741.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": -4,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8633,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LDLRAD4",
"gene_hgnc_id": 1224,
"hgvs_c": "c.-383+18310A>C",
"hgvs_p": null,
"transcript": "NM_001378098.1",
"protein_id": "NP_001365027.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 306,
"cds_start": -4,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8686,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LDLRAD4",
"gene_hgnc_id": 1224,
"hgvs_c": "c.-382-30140A>C",
"hgvs_p": null,
"transcript": "NM_001378099.1",
"protein_id": "NP_001365028.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 306,
"cds_start": -4,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8662,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LDLRAD4",
"gene_hgnc_id": 1224,
"hgvs_c": "c.-382-30140A>C",
"hgvs_p": null,
"transcript": "NM_001394662.1",
"protein_id": "NP_001381591.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 306,
"cds_start": -4,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8604,
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LDLRAD4",
"gene_hgnc_id": 1224,
"hgvs_c": "c.-382-30140A>C",
"hgvs_p": null,
"transcript": "NM_001394663.1",
"protein_id": "NP_001381592.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 306,
"cds_start": -4,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8661,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LDLRAD4",
"gene_hgnc_id": 1224,
"hgvs_c": "c.-382-30140A>C",
"hgvs_p": null,
"transcript": "NM_181481.5",
"protein_id": "NP_852146.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 306,
"cds_start": -4,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8574,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LDLRAD4",
"gene_hgnc_id": 1224,
"hgvs_c": "c.-382-30140A>C",
"hgvs_p": null,
"transcript": "ENST00000679091.1",
"protein_id": "ENSP00000503185.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 306,
"cds_start": -4,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LDLRAD4",
"gene_hgnc_id": 1224,
"hgvs_c": "c.-382-30140A>C",
"hgvs_p": null,
"transcript": "NM_001378101.1",
"protein_id": "NP_001365030.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": -4,
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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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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
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"gene_symbol": "LDLRAD4",
"gene_hgnc_id": 1224,
"hgvs_c": "c.-382-30140A>C",
"hgvs_p": null,
"transcript": "NM_001394664.1",
"protein_id": "NP_001381593.1",
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},
{
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],
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},
{
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],
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"gene_symbol": "LDLRAD4",
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"hgvs_c": "c.-382-30140A>C",
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"transcript": "NM_181482.5",
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],
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"gene_symbol": "LDLRAD4",
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"hgvs_c": "c.-382-30140A>C",
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],
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},
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],
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],
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},
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],
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"hgvs_c": "c.-382-30140A>C",
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"transcript": "ENST00000679177.1",
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],
"exon_rank": null,
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],
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},
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],
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"gene_symbol": "LDLRAD4",
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"hgvs_c": "n.362-30140A>C",
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"transcript": "ENST00000590371.5",
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},
{
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],
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "LDLRAD4",
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"hgvs_c": "n.-382-30140A>C",
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"transcript": "ENST00000677304.1",
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},
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],
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{
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"verdict": "Likely_benign",
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"clinvar_disease": "",
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"clinvar_review_status": "",
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}
],
"message": null
}