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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: 3-49718209-CCAGCGGCGG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49718209&ref=CCAGCGGCGG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49718209,
"ref": "CCAGCGGCGG",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_198722.3",
"consequences": [
{
"aa_ref": "CRRW",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMIGO3",
"gene_hgnc_id": 24075,
"hgvs_c": "c.1248_1256delCCGCCGCTG",
"hgvs_p": "p.Cys416_Arg418del",
"transcript": "NM_198722.3",
"protein_id": "NP_942015.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 504,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000320431.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198722.3"
},
{
"aa_ref": "CRRW",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMIGO3",
"gene_hgnc_id": 24075,
"hgvs_c": "c.1248_1256delCCGCCGCTG",
"hgvs_p": "p.Cys416_Arg418del",
"transcript": "ENST00000320431.8",
"protein_id": "ENSP00000323096.7",
"transcript_support_level": 6,
"aa_start": 416,
"aa_end": null,
"aa_length": 504,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198722.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320431.8"
},
{
"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": 39,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "c.3500+1740_3500+1748delGGCAGCGGC",
"hgvs_p": null,
"transcript": "NM_022064.5",
"protein_id": "NP_071347.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1314,
"cds_start": null,
"cds_end": null,
"cds_length": 3945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000327697.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022064.5"
},
{
"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": 39,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "c.3500+1740_3500+1748delGGCAGCGGC",
"hgvs_p": null,
"transcript": "ENST00000327697.11",
"protein_id": "ENSP00000328287.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1314,
"cds_start": null,
"cds_end": null,
"cds_length": 3945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022064.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327697.11"
},
{
"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": 39,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "n.*1574+1740_*1574+1748delGGCAGCGGC",
"hgvs_p": null,
"transcript": "ENST00000457726.5",
"protein_id": "ENSP00000394369.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000457726.5"
},
{
"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": 38,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "n.3895+1740_3895+1748delGGCAGCGGC",
"hgvs_p": null,
"transcript": "ENST00000486102.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000486102.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPB",
"gene_hgnc_id": 22932,
"hgvs_c": "c.*3534_*3542delCCGCCGCTG",
"hgvs_p": null,
"transcript": "ENST00000480687.5",
"protein_id": "ENSP00000418565.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 360,
"cds_start": null,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000480687.5"
},
{
"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": 39,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "c.3500+1740_3500+1748delGGCAGCGGC",
"hgvs_p": null,
"transcript": "ENST00000859347.1",
"protein_id": "ENSP00000529406.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1314,
"cds_start": null,
"cds_end": null,
"cds_length": 3945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859347.1"
},
{
"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": 39,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "c.3500+1740_3500+1748delGGCAGCGGC",
"hgvs_p": null,
"transcript": "ENST00000931175.1",
"protein_id": "ENSP00000601234.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1314,
"cds_start": null,
"cds_end": null,
"cds_length": 3945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931175.1"
},
{
"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": 40,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "c.3497+1740_3497+1748delGGCAGCGGC",
"hgvs_p": null,
"transcript": "ENST00000859349.1",
"protein_id": "ENSP00000529408.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1313,
"cds_start": null,
"cds_end": null,
"cds_length": 3942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859349.1"
},
{
"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": 39,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "c.3497+1740_3497+1748delGGCAGCGGC",
"hgvs_p": null,
"transcript": "ENST00000955449.1",
"protein_id": "ENSP00000625508.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1313,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000955449.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "c.3497+1740_3497+1748delGGCAGCGGC",
"hgvs_p": null,
"transcript": "ENST00000955454.1",
"protein_id": "ENSP00000625513.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1313,
"cds_start": null,
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"cds_length": 3942,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955454.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "c.3494+1740_3494+1748delGGCAGCGGC",
"hgvs_p": null,
"transcript": "ENST00000859352.1",
"protein_id": "ENSP00000529411.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1312,
"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000859352.1"
},
{
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"protein_coding": true,
"strand": true,
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"intron_variant"
],
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"exon_count": 39,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "c.3494+1740_3494+1748delGGCAGCGGC",
"hgvs_p": null,
"transcript": "ENST00000931174.1",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000931174.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "c.3491+1740_3491+1748delGGCAGCGGC",
"hgvs_p": null,
"transcript": "ENST00000955447.1",
"protein_id": "ENSP00000625506.1",
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"cdna_start": null,
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"feature": "ENST00000955447.1"
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 39,
"intron_rank": 35,
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"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "c.3491+1740_3491+1748delGGCAGCGGC",
"hgvs_p": null,
"transcript": "ENST00000955455.1",
"protein_id": "ENSP00000625514.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000955455.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 39,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "c.3488+1740_3488+1748delGGCAGCGGC",
"hgvs_p": null,
"transcript": "ENST00000859348.1",
"protein_id": "ENSP00000529407.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000859348.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 39,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "c.3488+1740_3488+1748delGGCAGCGGC",
"hgvs_p": null,
"transcript": "ENST00000859354.1",
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"feature": "ENST00000859354.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "RNF123",
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"hgvs_c": "c.3479+1740_3479+1748delGGCAGCGGC",
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"protein_id": "ENSP00000625509.1",
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},
{
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"protein_coding": true,
"strand": true,
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],
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"gene_symbol": "RNF123",
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"hgvs_c": "c.3500+1740_3500+1748delGGCAGCGGC",
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"biotype": "protein_coding",
"feature": "ENST00000955452.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "c.3458+1740_3458+1748delGGCAGCGGC",
"hgvs_p": null,
"transcript": "ENST00000859351.1",
"protein_id": "ENSP00000529410.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1300,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859351.1"
},
{
"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": 38,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "c.3425+1740_3425+1748delGGCAGCGGC",
"hgvs_p": null,
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}
],
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}