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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: 8-143920413-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=143920413&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "PLEC",
"hgnc_id": 9069,
"hgvs_c": "c.9819C>T",
"hgvs_p": "p.Ala3273Ala",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_201380.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -21,
"allele_count_reference_population": 2447,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.69,
"chr": "8",
"clinvar_classification": "Benign",
"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,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6899999976158142,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 4547,
"aa_ref": "A",
"aa_start": 3136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14804,
"cdna_start": 9544,
"cds_end": null,
"cds_length": 13644,
"cds_start": 9408,
"consequences": [
"synonymous_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.9408C>T",
"hgvs_p": "p.Ala3136Ala",
"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": "A",
"aa_end": null,
"aa_length": 4547,
"aa_ref": "A",
"aa_start": 3136,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 14804,
"cdna_start": 9544,
"cds_end": null,
"cds_length": 13644,
"cds_start": 9408,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000345136.8",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9408C>T",
"hgvs_p": "p.Ala3136Ala",
"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": "A",
"aa_end": null,
"aa_length": 4533,
"aa_ref": "A",
"aa_start": 3122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14683,
"cdna_start": 9423,
"cds_end": null,
"cds_length": 13602,
"cds_start": 9366,
"consequences": [
"synonymous_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.9366C>T",
"hgvs_p": "p.Ala3122Ala",
"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": "A",
"aa_end": null,
"aa_length": 4533,
"aa_ref": "A",
"aa_start": 3122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14683,
"cdna_start": 9423,
"cds_end": null,
"cds_length": 13602,
"cds_start": 9366,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000356346.7",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9366C>T",
"hgvs_p": "p.Ala3122Ala",
"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": "A",
"aa_end": null,
"aa_length": 4684,
"aa_ref": "A",
"aa_start": 3273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15249,
"cdna_start": 9989,
"cds_end": null,
"cds_length": 14055,
"cds_start": 9819,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000322810.8",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9819C>T",
"hgvs_p": "p.Ala3273Ala",
"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": "A",
"aa_end": null,
"aa_length": 4574,
"aa_ref": "A",
"aa_start": 3163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14787,
"cdna_start": 9527,
"cds_end": null,
"cds_length": 13725,
"cds_start": 9489,
"consequences": [
"synonymous_variant"
],
"exon_count": 33,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000436759.6",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9489C>T",
"hgvs_p": "p.Ala3163Ala",
"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": "A",
"aa_end": null,
"aa_length": 4551,
"aa_ref": "A",
"aa_start": 3140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14689,
"cdna_start": 9429,
"cds_end": null,
"cds_length": 13656,
"cds_start": 9420,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000357649.6",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9420C>T",
"hgvs_p": "p.Ala3140Ala",
"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": "A",
"aa_end": null,
"aa_length": 4547,
"aa_ref": "A",
"aa_start": 3136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14736,
"cdna_start": 9476,
"cds_end": null,
"cds_length": 13644,
"cds_start": 9408,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000354589.7",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9408C>T",
"hgvs_p": "p.Ala3136Ala",
"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": "A",
"aa_end": null,
"aa_length": 4525,
"aa_ref": "A",
"aa_start": 3114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14751,
"cdna_start": 9491,
"cds_end": null,
"cds_length": 13578,
"cds_start": 9342,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000354958.6",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9342C>T",
"hgvs_p": "p.Ala3114Ala",
"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
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 4515,
"aa_ref": "A",
"aa_start": 3104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14646,
"cdna_start": 9386,
"cds_end": null,
"cds_length": 13548,
"cds_start": 9312,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000398774.6",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9312C>T",
"hgvs_p": "p.Ala3104Ala",
"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": "A",
"aa_end": null,
"aa_length": 4684,
"aa_ref": "A",
"aa_start": 3273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15299,
"cdna_start": 10039,
"cds_end": null,
"cds_length": 14055,
"cds_start": 9819,
"consequences": [
"synonymous_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.9819C>T",
"hgvs_p": "p.Ala3273Ala",
"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
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 4591,
"aa_ref": "A",
"aa_start": 3180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13782,
"cdna_start": 9546,
"cds_end": null,
"cds_length": 13776,
"cds_start": 9540,
"consequences": [
"synonymous_variant"
],
"exon_count": 34,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000528025.6",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9540C>T",
"hgvs_p": "p.Ala3180Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437303.2",
"strand": false,
"transcript": "ENST00000528025.6",
"transcript_support_level": 5
},
{
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"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14798,
"cdna_start": 9538,
"cds_end": null,
"cds_length": 13725,
"cds_start": 9489,
"consequences": [
"synonymous_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.9489C>T",
"hgvs_p": "p.Ala3163Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000436.2",
"strand": false,
"transcript": "NM_000445.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 4570,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13713,
"cdna_start": 9477,
"cds_end": null,
"cds_length": 13713,
"cds_start": 9477,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000527096.5",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9477C>T",
"hgvs_p": "p.Ala3159Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434583.1",
"strand": false,
"transcript": "ENST00000527096.5",
"transcript_support_level": 5
},
{
"aa_alt": "A",
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"aa_length": 4564,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13737,
"cdna_start": 9501,
"cds_end": null,
"cds_length": 13695,
"cds_start": 9459,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000685198.1",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9459C>T",
"hgvs_p": "p.Ala3153Ala",
"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
},
{
"aa_alt": "A",
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"aa_length": 4551,
"aa_ref": "A",
"aa_start": 3140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14789,
"cdna_start": 9529,
"cds_end": null,
"cds_length": 13656,
"cds_start": 9420,
"consequences": [
"synonymous_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.9420C>T",
"hgvs_p": "p.Ala3140Ala",
"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
},
{
"aa_alt": "A",
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"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 14763,
"cdna_start": 9503,
"cds_end": null,
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"cds_start": 9408,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "NM_201382.4",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9408C>T",
"hgvs_p": "p.Ala3136Ala",
"intron_rank": null,
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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",
"transcript_support_level": null
},
{
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"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_length": 14665,
"cdna_start": 9405,
"cds_end": null,
"cds_length": 13578,
"cds_start": 9342,
"consequences": [
"synonymous_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.9342C>T",
"hgvs_p": "p.Ala3114Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_958781.1",
"strand": false,
"transcript": "NM_201379.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 9352,
"cds_end": null,
"cds_length": 13575,
"cds_start": 9339,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000693060.1",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9339C>T",
"hgvs_p": "p.Ala3113Ala",
"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": "A",
"aa_end": null,
"aa_length": 4515,
"aa_ref": "A",
"aa_start": 3104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14679,
"cdna_start": 9419,
"cds_end": null,
"cds_length": 13548,
"cds_start": 9312,
"consequences": [
"synonymous_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.9312C>T",
"hgvs_p": "p.Ala3104Ala",
"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
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 4453,
"aa_ref": "A",
"aa_start": 3042,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13695,
"cdna_start": 9459,
"cds_end": null,
"cds_length": 13362,
"cds_start": 9126,
"consequences": [
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