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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: 14-73211811-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=73211811&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PP2",
"BP6",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PSEN1",
"hgnc_id": 9508,
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Asp333Gly",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": -4,
"transcript": "NM_000021.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP2,BP6,BS2",
"acmg_score": -4,
"allele_count_reference_population": 66,
"alphamissense_prediction": null,
"alphamissense_score": 0.1827,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.5,
"chr": "14",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " 3, familial,Acne inversa,Alzheimer disease 3,Dilated cardiomyopathy 1U,Frontotemporal dementia,Heart failure,Pick disease,Primary dilated cardiomyopathy",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5278641581535339,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 467,
"aa_ref": "D",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6018,
"cdna_start": 1210,
"cds_end": null,
"cds_length": 1404,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_000021.4",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Asp333Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000324501.10",
"protein_coding": true,
"protein_id": "NP_000012.1",
"strand": true,
"transcript": "NM_000021.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 467,
"aa_ref": "D",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6018,
"cdna_start": 1210,
"cds_end": null,
"cds_length": 1404,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000324501.10",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Asp333Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000021.4",
"protein_coding": true,
"protein_id": "ENSP00000326366.5",
"strand": true,
"transcript": "ENST00000324501.10",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 463,
"aa_ref": "D",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2776,
"cdna_start": 1258,
"cds_end": null,
"cds_length": 1392,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000357710.8",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.986A>G",
"hgvs_p": "p.Asp329Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000350342.4",
"strand": true,
"transcript": "ENST00000357710.8",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 463,
"aa_ref": "D",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3046,
"cdna_start": 1528,
"cds_end": null,
"cds_length": 1392,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000394164.5",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.986A>G",
"hgvs_p": "p.Asp329Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377719.1",
"strand": true,
"transcript": "ENST00000394164.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1254,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000553855.5",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "n.1090A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000452242.1",
"strand": true,
"transcript": "ENST00000553855.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1752,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000555386.6",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "n.1078A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000450845.1",
"strand": true,
"transcript": "ENST00000555386.6",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 501,
"aa_ref": "D",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2810,
"cdna_start": 1301,
"cds_end": null,
"cds_length": 1506,
"cds_start": 1100,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000894169.1",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.1100A>G",
"hgvs_p": "p.Asp367Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564228.1",
"strand": true,
"transcript": "ENST00000894169.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 495,
"aa_ref": "D",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2843,
"cdna_start": 1324,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1082,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000894165.1",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.1082A>G",
"hgvs_p": "p.Asp361Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564224.1",
"strand": true,
"transcript": "ENST00000894165.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 476,
"aa_ref": "D",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6034,
"cdna_start": 1237,
"cds_end": null,
"cds_length": 1431,
"cds_start": 1025,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000700320.1",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.1025A>G",
"hgvs_p": "p.Asp342Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514947.1",
"strand": true,
"transcript": "ENST00000700320.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 467,
"aa_ref": "D",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6064,
"cdna_start": 1262,
"cds_end": null,
"cds_length": 1404,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000554131.6",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Asp333Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451915.2",
"strand": true,
"transcript": "ENST00000554131.6",
"transcript_support_level": 3
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 467,
"aa_ref": "D",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5957,
"cdna_start": 1155,
"cds_end": null,
"cds_length": 1404,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000700267.1",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Asp333Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514903.1",
"strand": true,
"transcript": "ENST00000700267.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 467,
"aa_ref": "D",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6076,
"cdna_start": 1274,
"cds_end": null,
"cds_length": 1404,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000700268.1",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Asp333Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514904.1",
"strand": true,
"transcript": "ENST00000700268.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 467,
"aa_ref": "D",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6116,
"cdna_start": 1314,
"cds_end": null,
"cds_length": 1404,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000700269.1",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Asp333Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514905.1",
"strand": true,
"transcript": "ENST00000700269.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 467,
"aa_ref": "D",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6089,
"cdna_start": 1287,
"cds_end": null,
"cds_length": 1404,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000700306.1",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Asp333Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514933.1",
"strand": true,
"transcript": "ENST00000700306.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 467,
"aa_ref": "D",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5975,
"cdna_start": 1178,
"cds_end": null,
"cds_length": 1404,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000700317.1",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Asp333Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514944.1",
"strand": true,
"transcript": "ENST00000700317.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 467,
"aa_ref": "D",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6014,
"cdna_start": 1212,
"cds_end": null,
"cds_length": 1404,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000700321.1",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Asp333Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514948.1",
"strand": true,
"transcript": "ENST00000700321.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 467,
"aa_ref": "D",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6056,
"cdna_start": 1254,
"cds_end": null,
"cds_length": 1404,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000700323.1",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Asp333Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514950.1",
"strand": true,
"transcript": "ENST00000700323.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 467,
"aa_ref": "D",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6075,
"cdna_start": 1273,
"cds_end": null,
"cds_length": 1404,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000700375.1",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Asp333Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514966.1",
"strand": true,
"transcript": "ENST00000700375.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 467,
"aa_ref": "D",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6396,
"cdna_start": 1594,
"cds_end": null,
"cds_length": 1404,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000700378.1",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Asp333Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514968.1",
"strand": true,
"transcript": "ENST00000700378.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 467,
"aa_ref": "D",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2890,
"cdna_start": 1371,
"cds_end": null,
"cds_length": 1404,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000894159.1",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Asp333Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564218.1",
"strand": true,
"transcript": "ENST00000894159.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 467,
"aa_ref": "D",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2747,
"cdna_start": 1230,
"cds_end": null,
"cds_length": 1404,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000894162.1",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.998A>G",
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"phenotype_combined": "Primary dilated cardiomyopathy;Heart failure|Frontotemporal dementia;Pick disease;Alzheimer disease 3;Acne inversa, familial, 3|Dilated cardiomyopathy 1U",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.519,
"pos": 73211811,
"ref": "A",
"revel_prediction": "Pathogenic",
"revel_score": 0.732,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_000021.4"
}
]
}