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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: 9-121286020-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=121286020&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "GSN",
"hgnc_id": 4620,
"hgvs_c": "c.99+3470G>A",
"hgvs_p": null,
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001127663.2",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000239593",
"hgnc_id": null,
"hgvs_c": "n.240+704C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -20,
"transcript": "ENST00000719814.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 198245,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.79,
"chr": "9",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7900000214576721,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 731,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2595,
"cdna_start": null,
"cds_end": null,
"cds_length": 2196,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_198252.3",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
"hgvs_c": "c.-10+4458G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000432226.7",
"protein_coding": true,
"protein_id": "NP_937895.1",
"strand": true,
"transcript": "NM_198252.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 731,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2595,
"cdna_start": null,
"cds_end": null,
"cds_length": 2196,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000432226.7",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
"hgvs_c": "c.-10+4458G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_198252.3",
"protein_coding": true,
"protein_id": "ENSP00000404226.2",
"strand": true,
"transcript": "ENST00000432226.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 784,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2727,
"cdna_start": null,
"cds_end": null,
"cds_length": 2355,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000900575.1",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
"hgvs_c": "c.-10+4458G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570634.1",
"strand": true,
"transcript": "ENST00000900575.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 767,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2707,
"cdna_start": null,
"cds_end": null,
"cds_length": 2304,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001127663.2",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
"hgvs_c": "c.99+3470G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121135.2",
"strand": true,
"transcript": "NM_001127663.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 767,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2702,
"cdna_start": null,
"cds_end": null,
"cds_length": 2304,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000449733.7",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
"hgvs_c": "c.99+3470G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409358.2",
"strand": true,
"transcript": "ENST00000449733.7",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 767,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2775,
"cdna_start": null,
"cds_end": null,
"cds_length": 2304,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000972572.1",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
"hgvs_c": "c.-81+4458G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642631.1",
"strand": true,
"transcript": "ENST00000972572.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 767,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2699,
"cdna_start": null,
"cds_end": null,
"cds_length": 2304,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000972579.1",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
"hgvs_c": "c.-10+4458G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642638.1",
"strand": true,
"transcript": "ENST00000972579.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 757,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2677,
"cdna_start": null,
"cds_end": null,
"cds_length": 2274,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000900548.1",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
"hgvs_c": "c.-10+4458G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570607.1",
"strand": true,
"transcript": "ENST00000900548.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2705,
"cdna_start": null,
"cds_end": null,
"cds_length": 2268,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353076.2",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
"hgvs_c": "c.-48+4458G>A",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340005.1",
"strand": true,
"transcript": "NM_001353076.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 2633,
"cdna_start": null,
"cds_end": null,
"cds_length": 2268,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
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"feature": "ENST00000699558.1",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000514432.1",
"strand": true,
"transcript": "ENST00000699558.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2666,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
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"feature": "ENST00000900584.1",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000570643.1",
"strand": true,
"transcript": "ENST00000900584.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000972568.1",
"gene_hgnc_id": 4620,
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"mane_plus": null,
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"strand": true,
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},
{
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"consequences": [
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],
"exon_count": 19,
"exon_rank": null,
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"feature": "NM_001127666.2",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
"hgvs_c": "c.-48+4458G>A",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001121138.1",
"strand": true,
"transcript": "NM_001127666.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001127667.2",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
"hgvs_c": "c.-39+4458G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001121139.1",
"strand": true,
"transcript": "NM_001127667.2",
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},
{
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"cds_end": null,
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"consequences": [
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],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353063.2",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
"hgvs_c": "c.-38-14045G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339992.1",
"strand": true,
"transcript": "NM_001353063.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353064.2",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
"hgvs_c": "c.-48+4458G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339993.1",
"strand": true,
"transcript": "NM_001353064.2",
"transcript_support_level": null
},
{
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"consequences": [
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],
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"feature": "NM_001353065.2",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
"hgvs_c": "c.-39+4067G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001339994.1",
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},
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"consequences": [
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],
"exon_count": 20,
"exon_rank": null,
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"feature": "NM_001353066.2",
"gene_hgnc_id": 4620,
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"hgvs_c": "c.-48+4458G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001339995.1",
"strand": true,
"transcript": "NM_001353066.2",
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},
{
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"consequences": [
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],
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"feature": "NM_001353067.2",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001339996.1",
"strand": true,
"transcript": "NM_001353067.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
"cds_length": 2229,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353068.2",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
"hgvs_c": "c.-39+3470G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339997.1",
"strand": true,
"transcript": "NM_001353068.2",
"transcript_support_level": null
},
{
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"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2769,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353069.2",
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