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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: 17-81935132-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=81935132&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"PM1",
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PYCR1",
"hgnc_id": 9721,
"hgvs_c": "c.415C>T",
"hgvs_p": "p.Arg139Trp",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -11,
"transcript": "NM_001282281.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PM1,BP4_Strong,BP6,BS1,BS2",
"acmg_score": -11,
"allele_count_reference_population": 2436,
"alphamissense_prediction": null,
"alphamissense_score": 0.1079,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.26,
"chr": "17",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Autosomal recessive cutis laxa type 2B,Cutis laxa,PYCR1-related de Barsy syndrome,PYCR1-related disorder,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.024432718753814697,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 319,
"aa_ref": "R",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2269,
"cdna_start": 820,
"cds_end": null,
"cds_length": 960,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_006907.4",
"gene_hgnc_id": 9721,
"gene_symbol": "PYCR1",
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Arg112Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000329875.13",
"protein_coding": true,
"protein_id": "NP_008838.2",
"strand": false,
"transcript": "NM_006907.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 319,
"aa_ref": "R",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2269,
"cdna_start": 820,
"cds_end": null,
"cds_length": 960,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000329875.13",
"gene_hgnc_id": 9721,
"gene_symbol": "PYCR1",
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Arg112Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006907.4",
"protein_coding": true,
"protein_id": "ENSP00000328858.8",
"strand": false,
"transcript": "ENST00000329875.13",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 319,
"aa_ref": "R",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1904,
"cdna_start": 448,
"cds_end": null,
"cds_length": 960,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000619204.4",
"gene_hgnc_id": 9721,
"gene_symbol": "PYCR1",
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Arg112Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000479793.1",
"strand": false,
"transcript": "ENST00000619204.4",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 316,
"aa_ref": "R",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1890,
"cdna_start": 777,
"cds_end": null,
"cds_length": 951,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000337943.9",
"gene_hgnc_id": 9721,
"gene_symbol": "PYCR1",
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Arg112Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000336579.5",
"strand": false,
"transcript": "ENST00000337943.9",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 288,
"aa_ref": "R",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1811,
"cdna_start": 448,
"cds_end": null,
"cds_length": 867,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000403172.8",
"gene_hgnc_id": 9721,
"gene_symbol": "PYCR1",
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Arg112Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385483.4",
"strand": false,
"transcript": "ENST00000403172.8",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 346,
"aa_ref": "R",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1951,
"cdna_start": 502,
"cds_end": null,
"cds_length": 1041,
"cds_start": 415,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001282281.2",
"gene_hgnc_id": 9721,
"gene_symbol": "PYCR1",
"hgvs_c": "c.415C>T",
"hgvs_p": "p.Arg139Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269210.1",
"strand": false,
"transcript": "NM_001282281.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 346,
"aa_ref": "R",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1346,
"cdna_start": 441,
"cds_end": null,
"cds_length": 1041,
"cds_start": 415,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000402252.6",
"gene_hgnc_id": 9721,
"gene_symbol": "PYCR1",
"hgvs_c": "c.415C>T",
"hgvs_p": "p.Arg139Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384949.2",
"strand": false,
"transcript": "ENST00000402252.6",
"transcript_support_level": 2
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 319,
"aa_ref": "R",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1869,
"cdna_start": 420,
"cds_end": null,
"cds_length": 960,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001282280.2",
"gene_hgnc_id": 9721,
"gene_symbol": "PYCR1",
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Arg112Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269209.1",
"strand": false,
"transcript": "NM_001282280.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 316,
"aa_ref": "R",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1926,
"cdna_start": 820,
"cds_end": null,
"cds_length": 951,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_153824.3",
"gene_hgnc_id": 9721,
"gene_symbol": "PYCR1",
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Arg112Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_722546.1",
"strand": false,
"transcript": "NM_153824.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 288,
"aa_ref": "R",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1776,
"cdna_start": 420,
"cds_end": null,
"cds_length": 867,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001282279.2",
"gene_hgnc_id": 9721,
"gene_symbol": "PYCR1",
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Arg112Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269208.1",
"strand": false,
"transcript": "NM_001282279.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 288,
"aa_ref": "R",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2153,
"cdna_start": 784,
"cds_end": null,
"cds_length": 867,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000922965.1",
"gene_hgnc_id": 9721,
"gene_symbol": "PYCR1",
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Arg112Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593024.1",
"strand": false,
"transcript": "ENST00000922965.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 252,
"aa_ref": "R",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 841,
"cdna_start": 416,
"cds_end": null,
"cds_length": 759,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000405481.8",
"gene_hgnc_id": 9721,
"gene_symbol": "PYCR1",
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Arg112Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386002.4",
"strand": false,
"transcript": "ENST00000405481.8",
"transcript_support_level": 2
},
{
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"aa_length": 241,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 868,
"cdna_start": 384,
"cds_end": null,
"cds_length": 728,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000582198.5",
"gene_hgnc_id": 9721,
"gene_symbol": "PYCR1",
"hgvs_c": "c.244C>T",
"hgvs_p": "p.Arg82Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463226.1",
"strand": false,
"transcript": "ENST00000582198.5",
"transcript_support_level": 5
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 224,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 767,
"cdna_start": 424,
"cds_end": null,
"cds_length": 677,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000585215.5",
"gene_hgnc_id": 9721,
"gene_symbol": "PYCR1",
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Arg112Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463343.1",
"strand": false,
"transcript": "ENST00000585215.5",
"transcript_support_level": 4
},
{
"aa_alt": "W",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1705,
"cdna_start": 420,
"cds_end": null,
"cds_length": 654,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001330523.2",
"gene_hgnc_id": 9721,
"gene_symbol": "PYCR1",
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Arg112Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317452.1",
"strand": false,
"transcript": "NM_001330523.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 217,
"aa_ref": "R",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1144,
"cdna_start": 389,
"cds_end": null,
"cds_length": 654,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000577756.5",
"gene_hgnc_id": 9721,
"gene_symbol": "PYCR1",
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Arg112Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463352.1",
"strand": false,
"transcript": "ENST00000577756.5",
"transcript_support_level": 2
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 217,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1740,
"cdna_start": 448,
"cds_end": null,
"cds_length": 654,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000629768.2",
"gene_hgnc_id": 9721,
"gene_symbol": "PYCR1",
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Arg112Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485679.1",
"strand": false,
"transcript": "ENST00000629768.2",
"transcript_support_level": 5
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 949,
"cdna_start": 295,
"cds_end": null,
"cds_length": 522,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000584848.5",
"gene_hgnc_id": 9721,
"gene_symbol": "PYCR1",
"hgvs_c": "c.295C>T",
"hgvs_p": "p.Arg99Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463342.1",
"strand": false,
"transcript": "ENST00000584848.5",
"transcript_support_level": 5
},
{
"aa_alt": "W",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 572,
"cdna_start": 411,
"cds_end": null,
"cds_length": 495,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000579698.5",
"gene_hgnc_id": 9721,
"gene_symbol": "PYCR1",
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Arg112Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463601.1",
"strand": false,
"transcript": "ENST00000579698.5",
"transcript_support_level": 4
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 131,
"aa_ref": "R",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 510,
"cdna_start": 264,
"cds_end": null,
"cds_length": 397,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000577624.5",
"gene_hgnc_id": 9721,
"gene_symbol": "PYCR1",
"hgvs_c": "c.151C>T",
"hgvs_p": "p.Arg51Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464098.1",
"strand": false,
"transcript": "ENST00000577624.5",
"transcript_support_level": 3
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 114,
"aa_ref": "R",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 528,
"cdna_start": 516,
"cds_end": null,
"cds_length": 346,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000581271.5",
"gene_hgnc_id": 9721,
"gene_symbol": "PYCR1",
"hgvs_c": "c.334C>T",
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