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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: 10-32575802-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=32575802&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 32575802,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000639629.2",
"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": 44,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.1454+3909G>A",
"hgvs_p": null,
"transcript": "NM_001395015.1",
"protein_id": "NP_001381944.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1385,
"cds_start": -4,
"cds_end": null,
"cds_length": 4158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4826,
"mane_select": "ENST00000639629.2",
"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": 44,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.1454+3909G>A",
"hgvs_p": null,
"transcript": "ENST00000639629.2",
"protein_id": "ENSP00000491655.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1385,
"cds_start": -4,
"cds_end": null,
"cds_length": 4158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4826,
"mane_select": "NM_001395015.1",
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "n.54+7911G>A",
"hgvs_p": null,
"transcript": "ENST00000302316.12",
"protein_id": "ENSP00000303710.9",
"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": 2129,
"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": 23,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "n.189+1276G>A",
"hgvs_p": null,
"transcript": "ENST00000639290.1",
"protein_id": null,
"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": 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": 44,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.1454+3909G>A",
"hgvs_p": null,
"transcript": "NM_001321115.2",
"protein_id": "NP_001308044.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1385,
"cds_start": -4,
"cds_end": null,
"cds_length": 4158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5060,
"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": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.716+3909G>A",
"hgvs_p": null,
"transcript": "NM_001395233.1",
"protein_id": "NP_001382162.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 505,
"cds_start": -4,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3902,
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "n.169-7232G>A",
"hgvs_p": null,
"transcript": "ENST00000375025.10",
"protein_id": "ENSP00000364165.6",
"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": 2729,
"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": 44,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.1454+3909G>A",
"hgvs_p": null,
"transcript": "XM_047425742.1",
"protein_id": "XP_047281698.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1385,
"cds_start": -4,
"cds_end": null,
"cds_length": 4158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5596,
"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": 44,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.1454+3909G>A",
"hgvs_p": null,
"transcript": "XM_047425743.1",
"protein_id": "XP_047281699.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1385,
"cds_start": -4,
"cds_end": null,
"cds_length": 4158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.1454+3909G>A",
"hgvs_p": null,
"transcript": "XM_011519664.1",
"protein_id": "XP_011517966.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1380,
"cds_start": -4,
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"cds_length": 4143,
"cdna_start": null,
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"cdna_length": 4460,
"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": 43,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.1433+3909G>A",
"hgvs_p": null,
"transcript": "XM_024448165.1",
"protein_id": "XP_024303933.1",
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"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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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 43,
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"gene_symbol": "CCDC7",
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"hgvs_c": "c.1421+3909G>A",
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"transcript": "XM_024448166.1",
"protein_id": "XP_024303934.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 44,
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"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.1454+3909G>A",
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"transcript": "XM_017016638.1",
"protein_id": "XP_016872127.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 17,
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"gene_symbol": "CCDC7",
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"hgvs_c": "c.1454+3909G>A",
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"transcript": "XM_011519666.1",
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},
{
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],
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"gene_symbol": "CCDC7",
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"hgvs_c": "c.1454+3909G>A",
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"transcript": "XM_011519667.1",
"protein_id": "XP_011517969.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.1364+3909G>A",
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"transcript": "XM_011519668.1",
"protein_id": "XP_011517970.1",
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},
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],
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"gene_symbol": "CCDC7",
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"hgvs_c": "c.1454+3909G>A",
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "CCDC7",
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"hgvs_c": "c.1454+3909G>A",
"hgvs_p": null,
"transcript": "XM_011519670.1",
"protein_id": "XP_011517972.1",
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},
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "CCDC7",
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"hgvs_c": "c.1454+3909G>A",
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"transcript": "XM_011519671.1",
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],
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"gene_symbol": "CCDC7",
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},
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],
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},
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
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"hgvs_c": "c.1454+3909G>A",
"hgvs_p": null,
"transcript": "XM_047425744.1",
"protein_id": "XP_047281700.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 42,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.1454+3909G>A",
"hgvs_p": null,
"transcript": "XM_011519674.1",
"protein_id": "XP_011517976.1",
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{
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{
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": null,
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"bayesdelnoaf_score": -0.9,
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Benign",
"transcript": "ENST00000639629.2",
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"effects": [
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"inheritance_mode": "Unknown",
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}
],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"custom_annotations": null
}
],
"message": null
}