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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: 8-143917346-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=143917346&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"BP4_Moderate",
"BP6",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PLEC",
"hgnc_id": 9069,
"hgvs_c": "c.12886C>T",
"hgvs_p": "p.Arg4296Cys",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -7,
"transcript": "NM_201380.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS1",
"acmg_score": -7,
"allele_count_reference_population": 454,
"alphamissense_prediction": null,
"alphamissense_score": 0.2103,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.12,
"chr": "8",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " Ogna type, with muscular dystrophy, with pyloric atresia,Autosomal recessive limb-girdle muscular dystrophy type 2Q,Epidermolysis bullosa simplex,Epidermolysis bullosa simplex 5B,Epidermolysis bullosa simplex 5C,Epidermolysis bullosa simplex with nail dystrophy,Inborn genetic diseases,PLEC-related disorder,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.09076195955276489,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 4547,
"aa_ref": "R",
"aa_start": 4159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14804,
"cdna_start": 12611,
"cds_end": null,
"cds_length": 13644,
"cds_start": 12475,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "NM_201384.3",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.12475C>T",
"hgvs_p": "p.Arg4159Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000345136.8",
"protein_coding": true,
"protein_id": "NP_958786.1",
"strand": false,
"transcript": "NM_201384.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 4547,
"aa_ref": "R",
"aa_start": 4159,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 14804,
"cdna_start": 12611,
"cds_end": null,
"cds_length": 13644,
"cds_start": 12475,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000345136.8",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.12475C>T",
"hgvs_p": "p.Arg4159Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_201384.3",
"protein_coding": true,
"protein_id": "ENSP00000344848.3",
"strand": false,
"transcript": "ENST00000345136.8",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 4533,
"aa_ref": "R",
"aa_start": 4145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14683,
"cdna_start": 12490,
"cds_end": null,
"cds_length": 13602,
"cds_start": 12433,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "NM_201378.4",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.12433C>T",
"hgvs_p": "p.Arg4145Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000356346.7",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_958780.1",
"strand": false,
"transcript": "NM_201378.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 4533,
"aa_ref": "R",
"aa_start": 4145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14683,
"cdna_start": 12490,
"cds_end": null,
"cds_length": 13602,
"cds_start": 12433,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000356346.7",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.12433C>T",
"hgvs_p": "p.Arg4145Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_201378.4",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348702.3",
"strand": false,
"transcript": "ENST00000356346.7",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 4684,
"aa_ref": "R",
"aa_start": 4296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15249,
"cdna_start": 13056,
"cds_end": null,
"cds_length": 14055,
"cds_start": 12886,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000322810.8",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.12886C>T",
"hgvs_p": "p.Arg4296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000323856.4",
"strand": false,
"transcript": "ENST00000322810.8",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 4574,
"aa_ref": "R",
"aa_start": 4186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14787,
"cdna_start": 12594,
"cds_end": null,
"cds_length": 13725,
"cds_start": 12556,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000436759.6",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.12556C>T",
"hgvs_p": "p.Arg4186Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388180.2",
"strand": false,
"transcript": "ENST00000436759.6",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 4551,
"aa_ref": "R",
"aa_start": 4163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14689,
"cdna_start": 12496,
"cds_end": null,
"cds_length": 13656,
"cds_start": 12487,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000357649.6",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.12487C>T",
"hgvs_p": "p.Arg4163Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000350277.2",
"strand": false,
"transcript": "ENST00000357649.6",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 4547,
"aa_ref": "R",
"aa_start": 4159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14736,
"cdna_start": 12543,
"cds_end": null,
"cds_length": 13644,
"cds_start": 12475,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000354589.7",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.12475C>T",
"hgvs_p": "p.Arg4159Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000346602.3",
"strand": false,
"transcript": "ENST00000354589.7",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 4525,
"aa_ref": "R",
"aa_start": 4137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14751,
"cdna_start": 12558,
"cds_end": null,
"cds_length": 13578,
"cds_start": 12409,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000354958.6",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.12409C>T",
"hgvs_p": "p.Arg4137Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000347044.2",
"strand": false,
"transcript": "ENST00000354958.6",
"transcript_support_level": 1
},
{
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"aa_end": null,
"aa_length": 4515,
"aa_ref": "R",
"aa_start": 4127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14646,
"cdna_start": 12453,
"cds_end": null,
"cds_length": 13548,
"cds_start": 12379,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000398774.6",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.12379C>T",
"hgvs_p": "p.Arg4127Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381756.2",
"strand": false,
"transcript": "ENST00000398774.6",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 4684,
"aa_ref": "R",
"aa_start": 4296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15299,
"cdna_start": 13106,
"cds_end": null,
"cds_length": 14055,
"cds_start": 12886,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "NM_201380.4",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.12886C>T",
"hgvs_p": "p.Arg4296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_958782.1",
"strand": false,
"transcript": "NM_201380.4",
"transcript_support_level": null
},
{
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"aa_length": 4591,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13782,
"cdna_start": 12613,
"cds_end": null,
"cds_length": 13776,
"cds_start": 12607,
"consequences": [
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],
"exon_count": 34,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000528025.6",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.12607C>T",
"hgvs_p": "p.Arg4203Cys",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000437303.2",
"strand": false,
"transcript": "ENST00000528025.6",
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},
{
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"cdna_end": null,
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"cdna_start": 12605,
"cds_end": null,
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"cds_start": 12556,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "NM_000445.5",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.12556C>T",
"hgvs_p": "p.Arg4186Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000436.2",
"strand": false,
"transcript": "NM_000445.5",
"transcript_support_level": null
},
{
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"aa_length": 4570,
"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cds_end": null,
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"consequences": [
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],
"exon_count": 32,
"exon_rank": 32,
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"feature": "ENST00000527096.5",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.12544C>T",
"hgvs_p": "p.Arg4182Cys",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000434583.1",
"strand": false,
"transcript": "ENST00000527096.5",
"transcript_support_level": 5
},
{
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"aa_length": 4564,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13737,
"cdna_start": 12568,
"cds_end": null,
"cds_length": 13695,
"cds_start": 12526,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000685198.1",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.12526C>T",
"hgvs_p": "p.Arg4176Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510528.1",
"strand": false,
"transcript": "ENST00000685198.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14789,
"cdna_start": 12596,
"cds_end": null,
"cds_length": 13656,
"cds_start": 12487,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "NM_201383.3",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.12487C>T",
"hgvs_p": "p.Arg4163Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_958785.1",
"strand": false,
"transcript": "NM_201383.3",
"transcript_support_level": null
},
{
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"cds_end": null,
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"consequences": [
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],
"exon_count": 32,
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"feature": "NM_201382.4",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.12475C>T",
"hgvs_p": "p.Arg4159Cys",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_958784.1",
"strand": false,
"transcript": "NM_201382.4",
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},
{
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"cdna_length": 14665,
"cdna_start": 12472,
"cds_end": null,
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"cds_start": 12409,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "NM_201379.3",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.12409C>T",
"hgvs_p": "p.Arg4137Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_958781.1",
"strand": false,
"transcript": "NM_201379.3",
"transcript_support_level": null
},
{
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"cds_start": 12406,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000693060.1",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.12406C>T",
"hgvs_p": "p.Arg4136Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510329.1",
"strand": false,
"transcript": "ENST00000693060.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 4515,
"aa_ref": "R",
"aa_start": 4127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14679,
"cdna_start": 12486,
"cds_end": null,
"cds_length": 13548,
"cds_start": 12379,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "NM_201381.3",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.12379C>T",
"hgvs_p": "p.Arg4127Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_958783.1",
"strand": false,
"transcript": "NM_201381.3",
"transcript_support_level": null
},
{
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"aa_length": 4453,
"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 13695,
"cdna_start": 12526,
"cds_end": null,
"cds_length": 13362,
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