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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: 9-121280666-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=121280666&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 121280666,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000432226.7",
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GSN",
"gene_hgnc_id": 4620,
"hgvs_c": "c.-102-804C>G",
"hgvs_p": null,
"transcript": "NM_198252.3",
"protein_id": "NP_937895.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 731,
"cds_start": -4,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2595,
"mane_select": "ENST00000432226.7",
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GSN",
"gene_hgnc_id": 4620,
"hgvs_c": "c.-102-804C>G",
"hgvs_p": null,
"transcript": "ENST00000432226.7",
"protein_id": "ENSP00000404226.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 731,
"cds_start": -4,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2595,
"mane_select": "NM_198252.3",
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GSN",
"gene_hgnc_id": 4620,
"hgvs_c": "c.-106-804C>G",
"hgvs_p": null,
"transcript": "NM_001127663.2",
"protein_id": "NP_001121135.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 767,
"cds_start": -4,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2707,
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GSN",
"gene_hgnc_id": 4620,
"hgvs_c": "c.-106-804C>G",
"hgvs_p": null,
"transcript": "ENST00000449733.7",
"protein_id": "ENSP00000409358.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 767,
"cds_start": -4,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2702,
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GSN",
"gene_hgnc_id": 4620,
"hgvs_c": "c.-140-804C>G",
"hgvs_p": null,
"transcript": "NM_001353076.2",
"protein_id": "NP_001340005.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 755,
"cds_start": -4,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2705,
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GSN",
"gene_hgnc_id": 4620,
"hgvs_c": "c.-140-804C>G",
"hgvs_p": null,
"transcript": "NM_001127666.2",
"protein_id": "NP_001121138.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 742,
"cds_start": -4,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2666,
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GSN",
"gene_hgnc_id": 4620,
"hgvs_c": "c.-131-804C>G",
"hgvs_p": null,
"transcript": "NM_001127667.2",
"protein_id": "NP_001121139.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 742,
"cds_start": -4,
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"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2657,
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GSN",
"gene_hgnc_id": 4620,
"hgvs_c": "c.-39+12447C>G",
"hgvs_p": null,
"transcript": "NM_001353063.2",
"protein_id": "NP_001339992.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 742,
"cds_start": -4,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2564,
"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": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GSN",
"gene_hgnc_id": 4620,
"hgvs_c": "c.-140-804C>G",
"hgvs_p": null,
"transcript": "NM_001353064.2",
"protein_id": "NP_001339993.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 742,
"cds_start": -4,
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"cds_length": 2229,
"cdna_start": null,
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"cdna_length": 2720,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "GSN",
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"hgvs_c": "c.-210-804C>G",
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"transcript": "NM_001353065.2",
"protein_id": "NP_001339994.1",
"transcript_support_level": null,
"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": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 1,
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"gene_symbol": "GSN",
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"hgvs_c": "c.-353-345C>G",
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"transcript": "NM_001353066.2",
"protein_id": "NP_001339995.1",
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},
{
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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": "GSN",
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],
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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": "GSN",
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"hgvs_c": "c.-322-804C>G",
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"transcript": "NM_001353073.2",
"protein_id": "NP_001340002.1",
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},
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],
"exon_rank": null,
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},
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],
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"transcript": "ENST00000373808.8",
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},
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],
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},
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],
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"intron_rank": 1,
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"gene_symbol": "GSN",
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"hgvs_c": "c.-181-804C>G",
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"transcript": "NM_001127664.2",
"protein_id": "NP_001121136.1",
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"feature": null
},
{
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"protein_coding": true,
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"consequences": [
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],
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"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GSN",
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"hgvs_c": "c.-176-804C>G",
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000437135.2",
"gene_symbol": "ENSG00000239593",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.284-228G>C",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NR_103560.1",
"gene_symbol": "GSN-AS1",
"hgnc_id": 23372,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*102G>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
}