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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: 6-52282511-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=52282511&ref=A&alt=T&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": "MCM3",
"hgnc_id": 6945,
"hgvs_c": "c.400+142T>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001366369.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.91,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9100000262260437,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 808,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3068,
"cdna_start": null,
"cds_end": null,
"cds_length": 2427,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002388.6",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.400+142T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000596288.7",
"protein_coding": true,
"protein_id": "NP_002379.4",
"strand": false,
"transcript": "NM_002388.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 808,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3068,
"cdna_start": null,
"cds_end": null,
"cds_length": 2427,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000596288.7",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.400+142T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002388.6",
"protein_coding": true,
"protein_id": "ENSP00000472940.2",
"strand": false,
"transcript": "ENST00000596288.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 853,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3208,
"cdna_start": null,
"cds_end": null,
"cds_length": 2562,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000616552.4",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.535+142T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480987.1",
"strand": false,
"transcript": "ENST00000616552.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 818,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3095,
"cdna_start": null,
"cds_end": null,
"cds_length": 2457,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000229854.12",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.430+142T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000229854.6",
"strand": false,
"transcript": "ENST00000229854.12",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 839,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3229,
"cdna_start": null,
"cds_end": null,
"cds_length": 2520,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860054.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.400+142T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530113.1",
"strand": false,
"transcript": "ENST00000860054.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 839,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3159,
"cdna_start": null,
"cds_end": null,
"cds_length": 2520,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860058.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.400+142T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530117.1",
"strand": false,
"transcript": "ENST00000860058.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 834,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3179,
"cdna_start": null,
"cds_end": null,
"cds_length": 2505,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939873.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.400+142T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609932.1",
"strand": false,
"transcript": "ENST00000939873.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 833,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3219,
"cdna_start": null,
"cds_end": null,
"cds_length": 2502,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001366369.2",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.400+142T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353298.1",
"strand": false,
"transcript": "NM_001366369.2",
"transcript_support_level": null
},
{
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"aa_length": 825,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3119,
"cdna_start": null,
"cds_end": null,
"cds_length": 2478,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001366370.2",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.400+142T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353299.1",
"strand": false,
"transcript": "NM_001366370.2",
"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": 2478,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860060.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.400+142T>A",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530119.1",
"strand": false,
"transcript": "ENST00000860060.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000939874.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.400+142T>A",
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"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000609933.1",
"strand": false,
"transcript": "ENST00000939874.1",
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},
{
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"cds_end": null,
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"consequences": [
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],
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"feature": "NM_001366371.2",
"gene_hgnc_id": 6945,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001353300.1",
"strand": false,
"transcript": "NM_001366371.2",
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},
{
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],
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"transcript": "ENST00000860057.1",
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},
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 17,
"exon_rank": null,
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"feature": "ENST00000939871.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.400+142T>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000609930.1",
"strand": false,
"transcript": "ENST00000939871.1",
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},
{
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],
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"feature": "ENST00000939872.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000609931.1",
"strand": false,
"transcript": "ENST00000939872.1",
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},
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"consequences": [
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],
"exon_count": 17,
"exon_rank": null,
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"feature": "ENST00000939876.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.400+142T>A",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000609935.1",
"strand": false,
"transcript": "ENST00000939876.1",
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},
{
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 17,
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"feature": "ENST00000939881.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.400+142T>A",
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"strand": false,
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},
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],
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"feature": "NM_001366372.2",
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},
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],
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"feature": "ENST00000860056.1",
"gene_hgnc_id": 6945,
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},
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"consequences": [
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],
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"feature": "ENST00000860055.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.400+142T>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000530114.1",
"strand": false,
"transcript": "ENST00000860055.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939880.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.400+142T>A",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609939.1",
"strand": false,
"transcript": "ENST00000939880.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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