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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: 19-11348063-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11348063&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 11348063,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000458408.6",
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "c.21+1436C>T",
"hgvs_p": null,
"transcript": "NM_001080503.3",
"protein_id": "NP_001073972.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 297,
"cds_start": -4,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1049,
"mane_select": "ENST00000458408.6",
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "c.21+1436C>T",
"hgvs_p": null,
"transcript": "ENST00000458408.6",
"protein_id": "ENSP00000402239.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 297,
"cds_start": -4,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1049,
"mane_select": "NM_001080503.3",
"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": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "c.21+1436C>T",
"hgvs_p": null,
"transcript": "ENST00000588790.5",
"protein_id": "ENSP00000468232.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 297,
"cds_start": -4,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1408,
"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": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "c.-15+1439C>T",
"hgvs_p": null,
"transcript": "ENST00000586451.5",
"protein_id": "ENSP00000465560.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 139,
"cds_start": -4,
"cds_end": null,
"cds_length": 421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 527,
"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": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "c.-127+1436C>T",
"hgvs_p": null,
"transcript": "ENST00000588592.5",
"protein_id": "ENSP00000465790.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 128,
"cds_start": -4,
"cds_end": null,
"cds_length": 388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 602,
"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": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "c.-127+1429C>T",
"hgvs_p": null,
"transcript": "ENST00000587531.5",
"protein_id": "ENSP00000466882.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 108,
"cds_start": -4,
"cds_end": null,
"cds_length": 329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 534,
"mane_select": null,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "n.97+1436C>T",
"hgvs_p": null,
"transcript": "ENST00000588821.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 981,
"mane_select": null,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "n.70+1429C>T",
"hgvs_p": null,
"transcript": "ENST00000589016.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 954,
"mane_select": null,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "n.55-903C>T",
"hgvs_p": null,
"transcript": "ENST00000589477.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 782,
"mane_select": null,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "n.104+1429C>T",
"hgvs_p": null,
"transcript": "ENST00000590054.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"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": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "n.22-903C>T",
"hgvs_p": null,
"transcript": "ENST00000590636.1",
"protein_id": "ENSP00000467391.1",
"transcript_support_level": 4,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "n.28+1429C>T",
"hgvs_p": null,
"transcript": "ENST00000590919.5",
"protein_id": "ENSP00000465744.1",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "CCDC159",
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"hgvs_c": "n.28+1429C>T",
"hgvs_p": null,
"transcript": "ENST00000592723.5",
"protein_id": "ENSP00000465290.1",
"transcript_support_level": 4,
"aa_start": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "CCDC159",
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"hgvs_c": "c.12-903C>T",
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"transcript": "XM_017026255.2",
"protein_id": "XP_016881744.1",
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},
{
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],
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"gene_symbol": "CCDC159",
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"transcript": "XM_017026256.3",
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"feature": null
},
{
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"consequences": [
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],
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"exon_count": 12,
"intron_rank": 1,
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"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "c.12-903C>T",
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"transcript": "XM_006722643.2",
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},
{
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],
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"gene_symbol": "CCDC159",
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"hgvs_c": "c.6-903C>T",
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"transcript": "XM_047438146.1",
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},
{
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"consequences": [
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],
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"intron_rank": 2,
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"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "c.-189-687C>T",
"hgvs_p": null,
"transcript": "XM_047438147.1",
"protein_id": "XP_047294103.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
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"hgvs_c": "c.-189-687C>T",
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},
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],
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},
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],
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"gene_symbol": "CCDC159",
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"hgvs_c": "c.-189-687C>T",
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},
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],
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"intron_rank": 1,
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"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "c.21+1436C>T",
"hgvs_p": null,
"transcript": "XM_017026258.3",
"protein_id": "XP_016881747.1",
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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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "c.18+1429C>T",
"hgvs_p": null,
"transcript": "XM_011527678.3",
"protein_id": "XP_011525980.2",
"transcript_support_level": null,
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"cds_start": -4,
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},
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{
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"verdict": "Benign",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}