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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: 10-32876494-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=32876494&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 32876494,
"ref": "G",
"alt": "C",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000639629.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "n.*1882G>C",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "n.2483G>C",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.*101G>C",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.*101G>C",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "n.*1882G>C",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "n.*2271G>C",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.*101G>C",
"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": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "n.*2271G>C",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.*101G>C",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.*101G>C",
"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,
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"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,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.*101G>C",
"hgvs_p": null,
"transcript": "XM_024448165.1",
"protein_id": "XP_024303933.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1378,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
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"hgvs_c": "c.*101G>C",
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"transcript": "XM_024448166.1",
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
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"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.*101G>C",
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"transcript": "XM_017016638.1",
"protein_id": "XP_016872127.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
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"gene_symbol": "CCDC7",
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"hgvs_c": "c.*101G>C",
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"protein_id": "XP_011517968.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "CCDC7",
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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": 42,
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"intron_rank": null,
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"gene_symbol": "CCDC7",
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"hgvs_c": "c.*101G>C",
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},
{
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],
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"gene_symbol": "CCDC7",
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"hgvs_c": "c.*101G>C",
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"transcript": "XM_011519669.1",
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},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 43,
"intron_rank": null,
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"gene_symbol": "CCDC7",
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"hgvs_c": "c.*101G>C",
"hgvs_p": null,
"transcript": "XM_011519670.1",
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},
{
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"strand": true,
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],
"exon_rank": 42,
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"exon_count": 43,
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},
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],
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},
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],
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 41,
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"intron_rank": null,
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"gene_symbol": "CCDC7",
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"hgvs_c": "c.*101G>C",
"hgvs_p": null,
"transcript": "XM_047425744.1",
"protein_id": "XP_047281700.1",
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"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
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"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.*101G>C",
"hgvs_p": null,
"transcript": "XM_011519674.1",
"protein_id": "XP_011517976.1",
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],
"verdict": "Likely_benign",
"transcript": "ENST00000639629.2",
"gene_symbol": "CCDC7",
"hgnc_id": 26533,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.*101G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}