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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: 1-113900063-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=113900063&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AP4B1",
"hgnc_id": 572,
"hgvs_c": "c.955T>C",
"hgvs_p": "p.Phe319Leu",
"inheritance_mode": "AR",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_006594.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3",
"PP5_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "AP4B1-AS1",
"hgnc_id": 44114,
"hgvs_c": "n.560A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 5,
"score": 5,
"transcript": "ENST00000419536.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3,PP5_Moderate",
"acmg_score": 5,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9837,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.04,
"chr": "1",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Abnormal brain morphology,Spastic paraplegia",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7589985132217407,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 739,
"aa_ref": "F",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3173,
"cdna_start": 1037,
"cds_end": null,
"cds_length": 2220,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001253852.3",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.955T>C",
"hgvs_p": "p.Phe319Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000369569.6",
"protein_coding": true,
"protein_id": "NP_001240781.1",
"strand": false,
"transcript": "NM_001253852.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 739,
"aa_ref": "F",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3173,
"cdna_start": 1037,
"cds_end": null,
"cds_length": 2220,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000369569.6",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.955T>C",
"hgvs_p": "p.Phe319Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001253852.3",
"protein_coding": true,
"protein_id": "ENSP00000358582.1",
"strand": false,
"transcript": "ENST00000369569.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 739,
"aa_ref": "F",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2742,
"cdna_start": 1160,
"cds_end": null,
"cds_length": 2220,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000256658.8",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.955T>C",
"hgvs_p": "p.Phe319Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000256658.4",
"strand": false,
"transcript": "ENST00000256658.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 781,
"aa_ref": "F",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2602,
"cdna_start": 1202,
"cds_end": null,
"cds_length": 2346,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000863127.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.955T>C",
"hgvs_p": "p.Phe319Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533186.1",
"strand": false,
"transcript": "ENST00000863127.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 739,
"aa_ref": "F",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3275,
"cdna_start": 1139,
"cds_end": null,
"cds_length": 2220,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001438373.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.955T>C",
"hgvs_p": "p.Phe319Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425302.1",
"strand": false,
"transcript": "NM_001438373.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 739,
"aa_ref": "F",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3254,
"cdna_start": 1118,
"cds_end": null,
"cds_length": 2220,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_006594.5",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.955T>C",
"hgvs_p": "p.Phe319Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_006585.2",
"strand": false,
"transcript": "NM_006594.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 739,
"aa_ref": "F",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2730,
"cdna_start": 1148,
"cds_end": null,
"cds_length": 2220,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000369571.3",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.955T>C",
"hgvs_p": "p.Phe319Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358584.3",
"strand": false,
"transcript": "ENST00000369571.3",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 739,
"aa_ref": "F",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2743,
"cdna_start": 1161,
"cds_end": null,
"cds_length": 2220,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000713590.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.955T>C",
"hgvs_p": "p.Phe319Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518886.1",
"strand": false,
"transcript": "ENST00000713590.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 739,
"aa_ref": "F",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3203,
"cdna_start": 1067,
"cds_end": null,
"cds_length": 2220,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000713645.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.955T>C",
"hgvs_p": "p.Phe319Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518947.1",
"strand": false,
"transcript": "ENST00000713645.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 739,
"aa_ref": "F",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2736,
"cdna_start": 1469,
"cds_end": null,
"cds_length": 2220,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000935535.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.955T>C",
"hgvs_p": "p.Phe319Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605594.1",
"strand": false,
"transcript": "ENST00000935535.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 693,
"aa_ref": "F",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2189,
"cdna_start": 1062,
"cds_end": null,
"cds_length": 2082,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000935541.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.955T>C",
"hgvs_p": "p.Phe319Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605600.1",
"strand": false,
"transcript": "ENST00000935541.1",
"transcript_support_level": null
},
{
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"aa_ref": "F",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2156,
"cdna_start": 1064,
"cds_end": null,
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"consequences": [
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],
"exon_count": 9,
"exon_rank": 5,
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"feature": "ENST00000863132.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.955T>C",
"hgvs_p": "p.Phe319Leu",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000533191.1",
"strand": false,
"transcript": "ENST00000863132.1",
"transcript_support_level": null
},
{
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"aa_ref": "F",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2158,
"cdna_start": 1066,
"cds_end": null,
"cds_length": 2040,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000970396.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.955T>C",
"hgvs_p": "p.Phe319Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640455.1",
"strand": false,
"transcript": "ENST00000970396.1",
"transcript_support_level": null
},
{
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"aa_ref": "F",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3029,
"cdna_start": 893,
"cds_end": null,
"cds_length": 1995,
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"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
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"feature": "NM_001437822.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.730T>C",
"hgvs_p": "p.Phe244Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424751.1",
"strand": false,
"transcript": "NM_001437822.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 664,
"aa_ref": "F",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2648,
"cdna_start": 1066,
"cds_end": null,
"cds_length": 1995,
"cds_start": 730,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000369564.6",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.730T>C",
"hgvs_p": "p.Phe244Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358577.2",
"strand": false,
"transcript": "ENST00000369564.6",
"transcript_support_level": 5
},
{
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"aa_ref": "F",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2132,
"cdna_start": 860,
"cds_end": null,
"cds_length": 1995,
"cds_start": 730,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000935536.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.730T>C",
"hgvs_p": "p.Phe244Leu",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000605595.1",
"strand": false,
"transcript": "ENST00000935536.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2212,
"cdna_start": 938,
"cds_end": null,
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"consequences": [
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],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000935543.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.730T>C",
"hgvs_p": "p.Phe244Leu",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000605602.1",
"strand": false,
"transcript": "ENST00000935543.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 646,
"aa_ref": "F",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2975,
"cdna_start": 839,
"cds_end": null,
"cds_length": 1941,
"cds_start": 676,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001438374.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.676T>C",
"hgvs_p": "p.Phe226Leu",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001425303.1",
"strand": false,
"transcript": "NM_001438374.1",
"transcript_support_level": null
},
{
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"aa_ref": "F",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3172,
"cdna_start": 1046,
"cds_end": null,
"cds_length": 1941,
"cds_start": 676,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000863120.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.676T>C",
"hgvs_p": "p.Phe226Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533179.1",
"strand": false,
"transcript": "ENST00000863120.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 646,
"aa_ref": "F",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2109,
"cdna_start": 840,
"cds_end": null,
"cds_length": 1941,
"cds_start": 676,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000863129.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.676T>C",
"hgvs_p": "p.Phe226Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533188.1",
"strand": false,
"transcript": "ENST00000863129.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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}