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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: 3-112336946-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=112336946&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 112336946,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000315711.12",
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.12+3722A>T",
"hgvs_p": null,
"transcript": "NM_005944.7",
"protein_id": "NP_005935.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 269,
"cds_start": -4,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": "ENST00000315711.12",
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.12+3722A>T",
"hgvs_p": null,
"transcript": "ENST00000315711.12",
"protein_id": "ENSP00000312766.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 269,
"cds_start": -4,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": "NM_005944.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "n.12+3722A>T",
"hgvs_p": null,
"transcript": "ENST00000498096.6",
"protein_id": "ENSP00000418576.1",
"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": 2212,
"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": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.87+929A>T",
"hgvs_p": null,
"transcript": "NM_001004196.4",
"protein_id": "NP_001004196.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 294,
"cds_start": -4,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2204,
"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": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.87+929A>T",
"hgvs_p": null,
"transcript": "ENST00000473539.5",
"protein_id": "ENSP00000420298.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 294,
"cds_start": -4,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1524,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.12+3722A>T",
"hgvs_p": null,
"transcript": "NM_001365851.2",
"protein_id": "NP_001352780.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 278,
"cds_start": -4,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1075,
"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": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.-10+929A>T",
"hgvs_p": null,
"transcript": "NM_001365852.1",
"protein_id": "NP_001352781.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 262,
"cds_start": -4,
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"cds_length": 789,
"cdna_start": null,
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"cdna_length": 2542,
"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": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.-9-3956A>T",
"hgvs_p": null,
"transcript": "NM_001365853.1",
"protein_id": "NP_001352782.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 262,
"cds_start": -4,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2189,
"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": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.-10+929A>T",
"hgvs_p": null,
"transcript": "NM_001365854.1",
"protein_id": "NP_001352783.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 262,
"cds_start": -4,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "CD200",
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"hgvs_c": "c.-9-3956A>T",
"hgvs_p": null,
"transcript": "ENST00000607597.2",
"protein_id": "ENSP00000476114.2",
"transcript_support_level": 4,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 2,
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"gene_symbol": "CD200",
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"hgvs_c": "c.-10+929A>T",
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"transcript": "ENST00000714188.1",
"protein_id": "ENSP00000519478.1",
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},
{
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],
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},
{
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],
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"gene_symbol": "CD200",
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"transcript": "ENST00000714208.1",
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},
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],
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"gene_symbol": "CD200",
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"transcript": "ENST00000606471.6",
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},
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],
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},
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],
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"gene_symbol": "CD200",
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"hgvs_c": "c.-129+3722A>T",
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},
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},
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],
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"gene_symbol": "CD200",
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"hgvs_c": "c.-250+3722A>T",
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"transcript": "NM_001318830.2",
"protein_id": "NP_001305759.1",
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},
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],
"exon_rank": null,
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"gene_symbol": "CD200",
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"hgvs_c": "c.-331-3956A>T",
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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": "CD200",
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"hgvs_c": "n.-10+929A>T",
"hgvs_p": null,
"transcript": "ENST00000607516.2",
"protein_id": "ENSP00000519477.1",
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "n.-9-3956A>T",
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"transcript": "ENST00000714187.1",
"protein_id": "ENSP00000519476.1",
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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
}