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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: 20-34932027-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=34932027&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GSS",
"hgnc_id": 4624,
"hgvs_c": "c.941C>T",
"hgvs_p": "p.Pro314Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_000178.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_score": -13,
"allele_count_reference_population": 918,
"alphamissense_prediction": null,
"alphamissense_score": 0.1135,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.22,
"chr": "20",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Glutathione synthetase deficiency with 5-oxoprolinuria,Inherited glutathione synthetase deficiency,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 B:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.010305792093276978,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 474,
"aa_ref": "P",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1909,
"cdna_start": 1029,
"cds_end": null,
"cds_length": 1425,
"cds_start": 941,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_000178.4",
"gene_hgnc_id": 4624,
"gene_symbol": "GSS",
"hgvs_c": "c.941C>T",
"hgvs_p": "p.Pro314Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000651619.1",
"protein_coding": true,
"protein_id": "NP_000169.1",
"strand": false,
"transcript": "NM_000178.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 474,
"aa_ref": "P",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1909,
"cdna_start": 1029,
"cds_end": null,
"cds_length": 1425,
"cds_start": 941,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000651619.1",
"gene_hgnc_id": 4624,
"gene_symbol": "GSS",
"hgvs_c": "c.941C>T",
"hgvs_p": "p.Pro314Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000178.4",
"protein_coding": true,
"protein_id": "ENSP00000498303.1",
"strand": false,
"transcript": "ENST00000651619.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 363,
"aa_ref": "P",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1092,
"cdna_start": 608,
"cds_end": null,
"cds_length": 1092,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000451957.2",
"gene_hgnc_id": 4624,
"gene_symbol": "GSS",
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Pro203Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407517.2",
"strand": false,
"transcript": "ENST00000451957.2",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 492,
"aa_ref": "P",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1954,
"cdna_start": 1075,
"cds_end": null,
"cds_length": 1479,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000854976.1",
"gene_hgnc_id": 4624,
"gene_symbol": "GSS",
"hgvs_c": "c.995C>T",
"hgvs_p": "p.Pro332Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525035.1",
"strand": false,
"transcript": "ENST00000854976.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 486,
"aa_ref": "P",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1903,
"cdna_start": 1024,
"cds_end": null,
"cds_length": 1461,
"cds_start": 977,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000854980.1",
"gene_hgnc_id": 4624,
"gene_symbol": "GSS",
"hgvs_c": "c.977C>T",
"hgvs_p": "p.Pro326Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525039.1",
"strand": false,
"transcript": "ENST00000854980.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 478,
"aa_ref": "P",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1896,
"cdna_start": 1018,
"cds_end": null,
"cds_length": 1437,
"cds_start": 953,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000854979.1",
"gene_hgnc_id": 4624,
"gene_symbol": "GSS",
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Pro318Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525038.1",
"strand": false,
"transcript": "ENST00000854979.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 474,
"aa_ref": "P",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1986,
"cdna_start": 1107,
"cds_end": null,
"cds_length": 1425,
"cds_start": 941,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001322494.1",
"gene_hgnc_id": 4624,
"gene_symbol": "GSS",
"hgvs_c": "c.941C>T",
"hgvs_p": "p.Pro314Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309423.1",
"strand": false,
"transcript": "NM_001322494.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 474,
"aa_ref": "P",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2748,
"cdna_start": 1869,
"cds_end": null,
"cds_length": 1425,
"cds_start": 941,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001322495.1",
"gene_hgnc_id": 4624,
"gene_symbol": "GSS",
"hgvs_c": "c.941C>T",
"hgvs_p": "p.Pro314Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309424.1",
"strand": false,
"transcript": "NM_001322495.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 474,
"aa_ref": "P",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1940,
"cdna_start": 1107,
"cds_end": null,
"cds_length": 1425,
"cds_start": 941,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000643188.1",
"gene_hgnc_id": 4624,
"gene_symbol": "GSS",
"hgvs_c": "c.941C>T",
"hgvs_p": "p.Pro314Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493903.1",
"strand": false,
"transcript": "ENST00000643188.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 474,
"aa_ref": "P",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2702,
"cdna_start": 1869,
"cds_end": null,
"cds_length": 1425,
"cds_start": 941,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000644793.1",
"gene_hgnc_id": 4624,
"gene_symbol": "GSS",
"hgvs_c": "c.941C>T",
"hgvs_p": "p.Pro314Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495750.1",
"strand": false,
"transcript": "ENST00000644793.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 474,
"aa_ref": "P",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1909,
"cdna_start": 1030,
"cds_end": null,
"cds_length": 1425,
"cds_start": 941,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000854975.1",
"gene_hgnc_id": 4624,
"gene_symbol": "GSS",
"hgvs_c": "c.941C>T",
"hgvs_p": "p.Pro314Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525034.1",
"strand": false,
"transcript": "ENST00000854975.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 474,
"aa_ref": "P",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1880,
"cdna_start": 1001,
"cds_end": null,
"cds_length": 1425,
"cds_start": 941,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000854981.1",
"gene_hgnc_id": 4624,
"gene_symbol": "GSS",
"hgvs_c": "c.941C>T",
"hgvs_p": "p.Pro314Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525040.1",
"strand": false,
"transcript": "ENST00000854981.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 474,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1849,
"cdna_start": 971,
"cds_end": null,
"cds_length": 1425,
"cds_start": 941,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000854982.1",
"gene_hgnc_id": 4624,
"gene_symbol": "GSS",
"hgvs_c": "c.941C>T",
"hgvs_p": "p.Pro314Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525041.1",
"strand": false,
"transcript": "ENST00000854982.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 474,
"aa_ref": "P",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1883,
"cdna_start": 1007,
"cds_end": null,
"cds_length": 1425,
"cds_start": 941,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000961051.1",
"gene_hgnc_id": 4624,
"gene_symbol": "GSS",
"hgvs_c": "c.941C>T",
"hgvs_p": "p.Pro314Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631110.1",
"strand": false,
"transcript": "ENST00000961051.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 473,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1895,
"cdna_start": 1019,
"cds_end": null,
"cds_length": 1422,
"cds_start": 941,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000912769.1",
"gene_hgnc_id": 4624,
"gene_symbol": "GSS",
"hgvs_c": "c.941C>T",
"hgvs_p": "p.Pro314Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582828.1",
"strand": false,
"transcript": "ENST00000912769.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 472,
"aa_ref": "P",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1878,
"cdna_start": 1000,
"cds_end": null,
"cds_length": 1419,
"cds_start": 935,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000854978.1",
"gene_hgnc_id": 4624,
"gene_symbol": "GSS",
"hgvs_c": "c.935C>T",
"hgvs_p": "p.Pro312Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525037.1",
"strand": false,
"transcript": "ENST00000854978.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 450,
"aa_ref": "P",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2131,
"cdna_start": 1006,
"cds_end": null,
"cds_length": 1353,
"cds_start": 941,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000642498.1",
"gene_hgnc_id": 4624,
"gene_symbol": "GSS",
"hgvs_c": "c.941C>T",
"hgvs_p": "p.Pro314Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493631.1",
"strand": false,
"transcript": "ENST00000642498.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 435,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1783,
"cdna_start": 904,
"cds_end": null,
"cds_length": 1308,
"cds_start": 824,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000854977.1",
"gene_hgnc_id": 4624,
"gene_symbol": "GSS",
"hgvs_c": "c.824C>T",
"hgvs_p": "p.Pro275Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525036.1",
"strand": false,
"transcript": "ENST00000854977.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 400,
"aa_ref": "P",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1672,
"cdna_start": 1018,
"cds_end": null,
"cds_length": 1203,
"cds_start": 941,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000961050.1",
"gene_hgnc_id": 4624,
"gene_symbol": "GSS",
"hgvs_c": "c.941C>T",
"hgvs_p": "p.Pro314Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631109.1",
"strand": false,
"transcript": "ENST00000961050.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 363,
"aa_ref": "P",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1554,
"cdna_start": 675,
"cds_end": null,
"cds_length": 1092,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000646735.1",
"gene_hgnc_id": 4624,
"gene_symbol": "GSS",
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Pro203Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493763.1",
"strand": false,
"transcript": "ENST00000646735.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 359,
"aa_ref": "P",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1310,
"cdna_start": 598,
"cds_end": null,
"cds_length": 1080,
"cds_start": 596,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000643502.1",
"gene_hgnc_id": 4624,
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