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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: 16-18838114-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=18838114&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SMG1",
"hgnc_id": 30045,
"hgvs_c": "c.7313A>T",
"hgvs_p": "p.Tyr2438Phe",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_015092.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.2888,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4502750635147095,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 3661,
"aa_ref": "Y",
"aa_start": 2438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16062,
"cdna_start": 7680,
"cds_end": null,
"cds_length": 10986,
"cds_start": 7313,
"consequences": [
"missense_variant"
],
"exon_count": 63,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "NM_015092.5",
"gene_hgnc_id": 30045,
"gene_symbol": "SMG1",
"hgvs_c": "c.7313A>T",
"hgvs_p": "p.Tyr2438Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000446231.7",
"protein_coding": true,
"protein_id": "NP_055907.3",
"strand": false,
"transcript": "NM_015092.5",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 3661,
"aa_ref": "Y",
"aa_start": 2438,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 16062,
"cdna_start": 7680,
"cds_end": null,
"cds_length": 10986,
"cds_start": 7313,
"consequences": [
"missense_variant"
],
"exon_count": 63,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "ENST00000446231.7",
"gene_hgnc_id": 30045,
"gene_symbol": "SMG1",
"hgvs_c": "c.7313A>T",
"hgvs_p": "p.Tyr2438Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015092.5",
"protein_coding": true,
"protein_id": "ENSP00000402515.3",
"strand": false,
"transcript": "ENST00000446231.7",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 3551,
"aa_ref": "Y",
"aa_start": 2328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12465,
"cdna_start": 6983,
"cds_end": null,
"cds_length": 10656,
"cds_start": 6983,
"consequences": [
"missense_variant"
],
"exon_count": 61,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000565324.5",
"gene_hgnc_id": 30045,
"gene_symbol": "SMG1",
"hgvs_c": "c.6983A>T",
"hgvs_p": "p.Tyr2328Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456259.1",
"strand": false,
"transcript": "ENST00000565324.5",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 3660,
"aa_ref": "Y",
"aa_start": 2438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16063,
"cdna_start": 7684,
"cds_end": null,
"cds_length": 10983,
"cds_start": 7313,
"consequences": [
"missense_variant"
],
"exon_count": 63,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "ENST00000940395.1",
"gene_hgnc_id": 30045,
"gene_symbol": "SMG1",
"hgvs_c": "c.7313A>T",
"hgvs_p": "p.Tyr2438Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610454.1",
"strand": false,
"transcript": "ENST00000940395.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 3689,
"aa_ref": "Y",
"aa_start": 2466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16146,
"cdna_start": 7764,
"cds_end": null,
"cds_length": 11070,
"cds_start": 7397,
"consequences": [
"missense_variant"
],
"exon_count": 62,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "XM_005255182.4",
"gene_hgnc_id": 30045,
"gene_symbol": "SMG1",
"hgvs_c": "c.7397A>T",
"hgvs_p": "p.Tyr2466Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005255239.1",
"strand": false,
"transcript": "XM_005255182.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 3688,
"aa_ref": "Y",
"aa_start": 2466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16143,
"cdna_start": 7764,
"cds_end": null,
"cds_length": 11067,
"cds_start": 7397,
"consequences": [
"missense_variant"
],
"exon_count": 62,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "XM_011545769.4",
"gene_hgnc_id": 30045,
"gene_symbol": "SMG1",
"hgvs_c": "c.7397A>T",
"hgvs_p": "p.Tyr2466Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011544071.1",
"strand": false,
"transcript": "XM_011545769.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 3663,
"aa_ref": "Y",
"aa_start": 2440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16204,
"cdna_start": 7822,
"cds_end": null,
"cds_length": 10992,
"cds_start": 7319,
"consequences": [
"missense_variant"
],
"exon_count": 63,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "XM_005255183.5",
"gene_hgnc_id": 30045,
"gene_symbol": "SMG1",
"hgvs_c": "c.7319A>T",
"hgvs_p": "p.Tyr2440Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005255240.1",
"strand": false,
"transcript": "XM_005255183.5",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 3663,
"aa_ref": "Y",
"aa_start": 2440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15954,
"cdna_start": 7572,
"cds_end": null,
"cds_length": 10992,
"cds_start": 7319,
"consequences": [
"missense_variant"
],
"exon_count": 63,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "XM_017023066.3",
"gene_hgnc_id": 30045,
"gene_symbol": "SMG1",
"hgvs_c": "c.7319A>T",
"hgvs_p": "p.Tyr2440Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878555.1",
"strand": false,
"transcript": "XM_017023066.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 3663,
"aa_ref": "Y",
"aa_start": 2440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19592,
"cdna_start": 11210,
"cds_end": null,
"cds_length": 10992,
"cds_start": 7319,
"consequences": [
"missense_variant"
],
"exon_count": 63,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "XM_047433792.1",
"gene_hgnc_id": 30045,
"gene_symbol": "SMG1",
"hgvs_c": "c.7319A>T",
"hgvs_p": "p.Tyr2440Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289748.1",
"strand": false,
"transcript": "XM_047433792.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 3660,
"aa_ref": "Y",
"aa_start": 2438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16059,
"cdna_start": 7680,
"cds_end": null,
"cds_length": 10983,
"cds_start": 7313,
"consequences": [
"missense_variant"
],
"exon_count": 63,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "XM_047433793.1",
"gene_hgnc_id": 30045,
"gene_symbol": "SMG1",
"hgvs_c": "c.7313A>T",
"hgvs_p": "p.Tyr2438Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289749.1",
"strand": false,
"transcript": "XM_047433793.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 3637,
"aa_ref": "Y",
"aa_start": 2414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15990,
"cdna_start": 7608,
"cds_end": null,
"cds_length": 10914,
"cds_start": 7241,
"consequences": [
"missense_variant"
],
"exon_count": 61,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "XM_005255184.5",
"gene_hgnc_id": 30045,
"gene_symbol": "SMG1",
"hgvs_c": "c.7241A>T",
"hgvs_p": "p.Tyr2414Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005255241.1",
"strand": false,
"transcript": "XM_005255184.5",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 3635,
"aa_ref": "Y",
"aa_start": 2412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15870,
"cdna_start": 7488,
"cds_end": null,
"cds_length": 10908,
"cds_start": 7235,
"consequences": [
"missense_variant"
],
"exon_count": 64,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "XM_047433794.1",
"gene_hgnc_id": 30045,
"gene_symbol": "SMG1",
"hgvs_c": "c.7235A>T",
"hgvs_p": "p.Tyr2412Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289750.1",
"strand": false,
"transcript": "XM_047433794.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 3611,
"aa_ref": "Y",
"aa_start": 2388,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19436,
"cdna_start": 11054,
"cds_end": null,
"cds_length": 10836,
"cds_start": 7163,
"consequences": [
"missense_variant"
],
"exon_count": 62,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "XM_024450199.2",
"gene_hgnc_id": 30045,
"gene_symbol": "SMG1",
"hgvs_c": "c.7163A>T",
"hgvs_p": "p.Tyr2388Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024305967.1",
"strand": false,
"transcript": "XM_024450199.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 3611,
"aa_ref": "Y",
"aa_start": 2388,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15666,
"cdna_start": 7284,
"cds_end": null,
"cds_length": 10836,
"cds_start": 7163,
"consequences": [
"missense_variant"
],
"exon_count": 62,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "XM_047433795.1",
"gene_hgnc_id": 30045,
"gene_symbol": "SMG1",
"hgvs_c": "c.7163A>T",
"hgvs_p": "p.Tyr2388Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289751.1",
"strand": false,
"transcript": "XM_047433795.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 3609,
"aa_ref": "Y",
"aa_start": 2386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15906,
"cdna_start": 7524,
"cds_end": null,
"cds_length": 10830,
"cds_start": 7157,
"consequences": [
"missense_variant"
],
"exon_count": 62,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "XM_047433796.1",
"gene_hgnc_id": 30045,
"gene_symbol": "SMG1",
"hgvs_c": "c.7157A>T",
"hgvs_p": "p.Tyr2386Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289752.1",
"strand": false,
"transcript": "XM_047433796.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 3059,
"aa_ref": "Y",
"aa_start": 1836,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13952,
"cdna_start": 5570,
"cds_end": null,
"cds_length": 9180,
"cds_start": 5507,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "XM_011545770.2",
"gene_hgnc_id": 30045,
"gene_symbol": "SMG1",
"hgvs_c": "c.5507A>T",
"hgvs_p": "p.Tyr1836Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011544072.1",
"strand": false,
"transcript": "XM_011545770.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 3059,
"aa_ref": "Y",
"aa_start": 1836,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14022,
"cdna_start": 5640,
"cds_end": null,
"cds_length": 9180,
"cds_start": 5507,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "XM_017023067.2",
"gene_hgnc_id": 30045,
"gene_symbol": "SMG1",
"hgvs_c": "c.5507A>T",
"hgvs_p": "p.Tyr1836Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878556.1",
"strand": false,
"transcript": "XM_017023067.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2033694474",
"effect": "missense_variant",
"frequency_reference_population": 6.8415085e-7,
"gene_hgnc_id": 30045,
"gene_symbol": "SMG1",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84151e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.895,
"pos": 18838114,
"ref": "T",
"revel_prediction": "Benign",
"revel_score": 0.259,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_015092.5"
}
]
}