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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: 3-11358775-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=11358775&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ATG7",
"hgnc_id": 16935,
"hgvs_c": "c.1479+163C>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_006395.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.83,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8299999833106995,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 703,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5333,
"cdna_start": null,
"cds_end": null,
"cds_length": 2112,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349232.2",
"gene_hgnc_id": 16935,
"gene_symbol": "ATG7",
"hgvs_c": "c.1479+163C>A",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000693202.1",
"protein_coding": true,
"protein_id": "NP_001336161.1",
"strand": true,
"transcript": "NM_001349232.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 703,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5333,
"cdna_start": null,
"cds_end": null,
"cds_length": 2112,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000693202.1",
"gene_hgnc_id": 16935,
"gene_symbol": "ATG7",
"hgvs_c": "c.1479+163C>A",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001349232.2",
"protein_coding": true,
"protein_id": "ENSP00000510336.1",
"strand": true,
"transcript": "ENST00000693202.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 703,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4959,
"cdna_start": null,
"cds_end": null,
"cds_length": 2112,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000354449.7",
"gene_hgnc_id": 16935,
"gene_symbol": "ATG7",
"hgvs_c": "c.1479+163C>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000346437.3",
"strand": true,
"transcript": "ENST00000354449.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 676,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2296,
"cdna_start": null,
"cds_end": null,
"cds_length": 2031,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000354956.9",
"gene_hgnc_id": 16935,
"gene_symbol": "ATG7",
"hgvs_c": "c.1479+163C>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000347042.5",
"strand": true,
"transcript": "ENST00000354956.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 707,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2403,
"cdna_start": null,
"cds_end": null,
"cds_length": 2124,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891232.1",
"gene_hgnc_id": 16935,
"gene_symbol": "ATG7",
"hgvs_c": "c.1491+163C>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561291.1",
"strand": true,
"transcript": "ENST00000891232.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 703,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5087,
"cdna_start": null,
"cds_end": null,
"cds_length": 2112,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349233.2",
"gene_hgnc_id": 16935,
"gene_symbol": "ATG7",
"hgvs_c": "c.1479+163C>A",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336162.1",
"strand": true,
"transcript": "NM_001349233.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 703,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5073,
"cdna_start": null,
"cds_end": null,
"cds_length": 2112,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349234.2",
"gene_hgnc_id": 16935,
"gene_symbol": "ATG7",
"hgvs_c": "c.1479+163C>A",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336163.1",
"strand": true,
"transcript": "NM_001349234.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 703,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5224,
"cdna_start": null,
"cds_end": null,
"cds_length": 2112,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349235.2",
"gene_hgnc_id": 16935,
"gene_symbol": "ATG7",
"hgvs_c": "c.1479+163C>A",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336164.1",
"strand": true,
"transcript": "NM_001349235.2",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 703,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4978,
"cdna_start": null,
"cds_end": null,
"cds_length": 2112,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006395.3",
"gene_hgnc_id": 16935,
"gene_symbol": "ATG7",
"hgvs_c": "c.1479+163C>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_006386.1",
"strand": true,
"transcript": "NM_006395.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 703,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2436,
"cdna_start": null,
"cds_end": null,
"cds_length": 2112,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000685771.1",
"gene_hgnc_id": 16935,
"gene_symbol": "ATG7",
"hgvs_c": "c.1479+163C>A",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509725.1",
"strand": true,
"transcript": "ENST00000685771.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891233.1",
"gene_hgnc_id": 16935,
"gene_symbol": "ATG7",
"hgvs_c": "c.1479+163C>A",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561292.1",
"strand": true,
"transcript": "ENST00000891233.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 2112,
"cds_start": null,
"consequences": [
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],
"exon_count": 20,
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"feature": "ENST00000891234.1",
"gene_hgnc_id": 16935,
"gene_symbol": "ATG7",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000561293.1",
"strand": true,
"transcript": "ENST00000891234.1",
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},
{
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],
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"feature": "ENST00000911856.1",
"gene_hgnc_id": 16935,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000581915.1",
"strand": true,
"transcript": "ENST00000911856.1",
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},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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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,
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"feature": "ENST00000968356.1",
"gene_hgnc_id": 16935,
"gene_symbol": "ATG7",
"hgvs_c": "c.1479+163C>A",
"hgvs_p": null,
"intron_rank": 14,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000638415.1",
"strand": true,
"transcript": "ENST00000968356.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 19,
"exon_rank": null,
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"feature": "ENST00000968354.1",
"gene_hgnc_id": 16935,
"gene_symbol": "ATG7",
"hgvs_c": "c.1476+163C>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000638413.1",
"strand": true,
"transcript": "ENST00000968354.1",
"transcript_support_level": null
},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 18,
"exon_rank": null,
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"feature": "NM_001136031.3",
"gene_hgnc_id": 16935,
"gene_symbol": "ATG7",
"hgvs_c": "c.1479+163C>A",
"hgvs_p": null,
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"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001129503.2",
"strand": true,
"transcript": "NM_001136031.3",
"transcript_support_level": null
},
{
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"cdna_length": 2405,
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891235.1",
"gene_hgnc_id": 16935,
"gene_symbol": "ATG7",
"hgvs_c": "c.1479+163C>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000561294.1",
"strand": true,
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},
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],
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"feature": "ENST00000968357.1",
"gene_hgnc_id": 16935,
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},
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"consequences": [
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],
"exon_count": 18,
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"feature": "NM_001349236.2",
"gene_hgnc_id": 16935,
"gene_symbol": "ATG7",
"hgvs_c": "c.1362+163C>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001336165.1",
"strand": true,
"transcript": "NM_001349236.2",
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},
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
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"feature": "ENST00000911854.1",
"gene_hgnc_id": 16935,
"gene_symbol": "ATG7",
"hgvs_c": "c.1362+163C>A",
"hgvs_p": null,
"intron_rank": 13,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581913.1",
"strand": true,
"transcript": "ENST00000911854.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1965,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891236.1",
"gene_hgnc_id": 16935,
"gene_symbol": "ATG7",
"hgvs_c": "c.1332+163C>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561295.1",
"strand": true,
"transcript": "ENST00000891236.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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