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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: 1-230787205-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=230787205&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CAPN9",
"hgnc_id": 1486,
"hgvs_c": "c.1519-317T>C",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_006615.3",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CAPN9-AS1",
"hgnc_id": 58238,
"hgvs_c": "n.380+7908A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000412344.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 10605,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.89,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8899999856948853,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 690,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2575,
"cdna_start": null,
"cds_end": null,
"cds_length": 2073,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006615.3",
"gene_hgnc_id": 1486,
"gene_symbol": "CAPN9",
"hgvs_c": "c.1519-317T>C",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000271971.7",
"protein_coding": true,
"protein_id": "NP_006606.1",
"strand": true,
"transcript": "NM_006615.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 690,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2575,
"cdna_start": null,
"cds_end": null,
"cds_length": 2073,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000271971.7",
"gene_hgnc_id": 1486,
"gene_symbol": "CAPN9",
"hgvs_c": "c.1519-317T>C",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006615.3",
"protein_coding": true,
"protein_id": "ENSP00000271971.2",
"strand": true,
"transcript": "ENST00000271971.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 664,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2484,
"cdna_start": null,
"cds_end": null,
"cds_length": 1995,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000354537.1",
"gene_hgnc_id": 1486,
"gene_symbol": "CAPN9",
"hgvs_c": "c.1441-317T>C",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000346538.1",
"strand": true,
"transcript": "ENST00000354537.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 627,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2173,
"cdna_start": null,
"cds_end": null,
"cds_length": 1884,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000366666.6",
"gene_hgnc_id": 1486,
"gene_symbol": "CAPN9",
"hgvs_c": "c.1330-317T>C",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355626.2",
"strand": true,
"transcript": "ENST00000366666.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 664,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2497,
"cdna_start": null,
"cds_end": null,
"cds_length": 1995,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_016452.3",
"gene_hgnc_id": 1486,
"gene_symbol": "CAPN9",
"hgvs_c": "c.1441-317T>C",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_057536.1",
"strand": true,
"transcript": "NM_016452.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 663,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2408,
"cdna_start": null,
"cds_end": null,
"cds_length": 1992,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000907308.1",
"gene_hgnc_id": 1486,
"gene_symbol": "CAPN9",
"hgvs_c": "c.1518+1188T>C",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577367.1",
"strand": true,
"transcript": "ENST00000907308.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 662,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2495,
"cdna_start": null,
"cds_end": null,
"cds_length": 1989,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000907306.1",
"gene_hgnc_id": 1486,
"gene_symbol": "CAPN9",
"hgvs_c": "c.1435-317T>C",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577365.1",
"strand": true,
"transcript": "ENST00000907306.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 661,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2467,
"cdna_start": null,
"cds_end": null,
"cds_length": 1986,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000907307.1",
"gene_hgnc_id": 1486,
"gene_symbol": "CAPN9",
"hgvs_c": "c.1432-317T>C",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577366.1",
"strand": true,
"transcript": "ENST00000907307.1",
"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": 2386,
"cdna_start": null,
"cds_end": null,
"cds_length": 1884,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001319676.2",
"gene_hgnc_id": 1486,
"gene_symbol": "CAPN9",
"hgvs_c": "c.1330-317T>C",
"hgvs_p": null,
"intron_rank": 10,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001306605.1",
"strand": true,
"transcript": "NM_001319676.2",
"transcript_support_level": null
},
{
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"aa_length": 601,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4756,
"cdna_start": null,
"cds_end": null,
"cds_length": 1806,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
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"feature": "ENST00000940880.1",
"gene_hgnc_id": 1486,
"gene_symbol": "CAPN9",
"hgvs_c": "c.1252-317T>C",
"hgvs_p": null,
"intron_rank": 9,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000610939.1",
"strand": true,
"transcript": "ENST00000940880.1",
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},
{
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"aa_ref": 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": 19,
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"feature": "XM_011544017.2",
"gene_hgnc_id": 1486,
"gene_symbol": "CAPN9",
"hgvs_c": "c.1519-317T>C",
"hgvs_p": null,
"intron_rank": 12,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011542319.1",
"strand": true,
"transcript": "XM_011544017.2",
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},
{
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"consequences": [
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],
"exon_count": 18,
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"feature": "XM_011544018.2",
"gene_hgnc_id": 1486,
"gene_symbol": "CAPN9",
"hgvs_c": "c.1441-317T>C",
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"mane_plus": null,
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},
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],
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"feature": "XM_017000098.2",
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"gene_symbol": "CAPN9",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_016855587.1",
"strand": true,
"transcript": "XM_017000098.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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],
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"feature": "XM_011544019.3",
"gene_hgnc_id": 1486,
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"hgvs_c": "c.1330-317T>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011542321.1",
"strand": true,
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},
{
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"consequences": [
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],
"exon_count": 15,
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"feature": "XM_047439807.1",
"gene_hgnc_id": 1486,
"gene_symbol": "CAPN9",
"hgvs_c": "c.1519-317T>C",
"hgvs_p": null,
"intron_rank": 12,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047295763.1",
"strand": true,
"transcript": "XM_047439807.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 19,
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"feature": "XM_047439808.1",
"gene_hgnc_id": 1486,
"gene_symbol": "CAPN9",
"hgvs_c": "c.934-317T>C",
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"intron_rank": 12,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295764.1",
"strand": true,
"transcript": "XM_047439808.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"consequences": [
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],
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"feature": "XM_024452513.2",
"gene_hgnc_id": 1486,
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"hgvs_c": "c.565-317T>C",
"hgvs_p": null,
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"protein_coding": true,
"protein_id": "XP_024308281.1",
"strand": true,
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},
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],
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"feature": "XM_024452514.2",
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"hgvs_c": "c.565-317T>C",
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"protein_coding": true,
"protein_id": "XP_024308282.1",
"strand": true,
"transcript": "XM_024452514.2",
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},
{
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"consequences": [
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],
"exon_count": 2,
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"feature": "ENST00000412344.1",
"gene_hgnc_id": 58238,
"gene_symbol": "CAPN9-AS1",
"hgvs_c": "n.380+7908A>G",
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"mane_plus": null,
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"protein_id": null,
"strand": false,
"transcript": "ENST00000412344.1",
"transcript_support_level": 3
},
{
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"biotype": "pseudogene",
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000428480.1",
"gene_hgnc_id": 58238,
"gene_symbol": "CAPN9-AS1",
"hgvs_c": "n.25+7908A>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000428480.1",
"transcript_support_level": 5
},
{
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"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 850,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000452640.1",
"gene_hgnc_id": 58238,
"gene_symbol": "CAPN9-AS1",
"hgvs_c": "n.41+7908A>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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