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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: 16-18819585-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=18819585&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 18819585,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_015092.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "c.9811T>C",
"hgvs_p": "p.Leu3271Leu",
"transcript": "NM_015092.5",
"protein_id": "NP_055907.3",
"transcript_support_level": null,
"aa_start": 3271,
"aa_end": null,
"aa_length": 3661,
"cds_start": 9811,
"cds_end": null,
"cds_length": 10986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000446231.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015092.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "c.9811T>C",
"hgvs_p": "p.Leu3271Leu",
"transcript": "ENST00000446231.7",
"protein_id": "ENSP00000402515.3",
"transcript_support_level": 1,
"aa_start": 3271,
"aa_end": null,
"aa_length": 3661,
"cds_start": 9811,
"cds_end": null,
"cds_length": 10986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015092.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446231.7"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "c.9481T>C",
"hgvs_p": "p.Leu3161Leu",
"transcript": "ENST00000565324.5",
"protein_id": "ENSP00000456259.1",
"transcript_support_level": 1,
"aa_start": 3161,
"aa_end": null,
"aa_length": 3551,
"cds_start": 9481,
"cds_end": null,
"cds_length": 10656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565324.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "c.9811T>C",
"hgvs_p": "p.Leu3271Leu",
"transcript": "ENST00000940395.1",
"protein_id": "ENSP00000610454.1",
"transcript_support_level": null,
"aa_start": 3271,
"aa_end": null,
"aa_length": 3660,
"cds_start": 9811,
"cds_end": null,
"cds_length": 10983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940395.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "c.9895T>C",
"hgvs_p": "p.Leu3299Leu",
"transcript": "XM_005255182.4",
"protein_id": "XP_005255239.1",
"transcript_support_level": null,
"aa_start": 3299,
"aa_end": null,
"aa_length": 3689,
"cds_start": 9895,
"cds_end": null,
"cds_length": 11070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255182.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "c.9895T>C",
"hgvs_p": "p.Leu3299Leu",
"transcript": "XM_011545769.4",
"protein_id": "XP_011544071.1",
"transcript_support_level": null,
"aa_start": 3299,
"aa_end": null,
"aa_length": 3688,
"cds_start": 9895,
"cds_end": null,
"cds_length": 11067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545769.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "c.9817T>C",
"hgvs_p": "p.Leu3273Leu",
"transcript": "XM_005255183.5",
"protein_id": "XP_005255240.1",
"transcript_support_level": null,
"aa_start": 3273,
"aa_end": null,
"aa_length": 3663,
"cds_start": 9817,
"cds_end": null,
"cds_length": 10992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255183.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "c.9817T>C",
"hgvs_p": "p.Leu3273Leu",
"transcript": "XM_017023066.3",
"protein_id": "XP_016878555.1",
"transcript_support_level": null,
"aa_start": 3273,
"aa_end": null,
"aa_length": 3663,
"cds_start": 9817,
"cds_end": null,
"cds_length": 10992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023066.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "c.9817T>C",
"hgvs_p": "p.Leu3273Leu",
"transcript": "XM_047433792.1",
"protein_id": "XP_047289748.1",
"transcript_support_level": null,
"aa_start": 3273,
"aa_end": null,
"aa_length": 3663,
"cds_start": 9817,
"cds_end": null,
"cds_length": 10992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433792.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "c.9811T>C",
"hgvs_p": "p.Leu3271Leu",
"transcript": "XM_047433793.1",
"protein_id": "XP_047289749.1",
"transcript_support_level": null,
"aa_start": 3271,
"aa_end": null,
"aa_length": 3660,
"cds_start": 9811,
"cds_end": null,
"cds_length": 10983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433793.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "c.9739T>C",
"hgvs_p": "p.Leu3247Leu",
"transcript": "XM_005255184.5",
"protein_id": "XP_005255241.1",
"transcript_support_level": null,
"aa_start": 3247,
"aa_end": null,
"aa_length": 3637,
"cds_start": 9739,
"cds_end": null,
"cds_length": 10914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255184.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "c.9733T>C",
"hgvs_p": "p.Leu3245Leu",
"transcript": "XM_047433794.1",
"protein_id": "XP_047289750.1",
"transcript_support_level": null,
"aa_start": 3245,
"aa_end": null,
"aa_length": 3635,
"cds_start": 9733,
"cds_end": null,
"cds_length": 10908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433794.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "c.9661T>C",
"hgvs_p": "p.Leu3221Leu",
"transcript": "XM_024450199.2",
"protein_id": "XP_024305967.1",
"transcript_support_level": null,
"aa_start": 3221,
"aa_end": null,
"aa_length": 3611,
"cds_start": 9661,
"cds_end": null,
"cds_length": 10836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450199.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "c.9661T>C",
"hgvs_p": "p.Leu3221Leu",
"transcript": "XM_047433795.1",
"protein_id": "XP_047289751.1",
"transcript_support_level": null,
"aa_start": 3221,
"aa_end": null,
"aa_length": 3611,
"cds_start": 9661,
"cds_end": null,
"cds_length": 10836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433795.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "c.9655T>C",
"hgvs_p": "p.Leu3219Leu",
"transcript": "XM_047433796.1",
"protein_id": "XP_047289752.1",
"transcript_support_level": null,
"aa_start": 3219,
"aa_end": null,
"aa_length": 3609,
"cds_start": 9655,
"cds_end": null,
"cds_length": 10830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433796.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "c.8005T>C",
"hgvs_p": "p.Leu2669Leu",
"transcript": "XM_011545770.2",
"protein_id": "XP_011544072.1",
"transcript_support_level": null,
"aa_start": 2669,
"aa_end": null,
"aa_length": 3059,
"cds_start": 8005,
"cds_end": null,
"cds_length": 9180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545770.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"hgvs_c": "c.8005T>C",
"hgvs_p": "p.Leu2669Leu",
"transcript": "XM_017023067.2",
"protein_id": "XP_016878556.1",
"transcript_support_level": null,
"aa_start": 2669,
"aa_end": null,
"aa_length": 3059,
"cds_start": 8005,
"cds_end": null,
"cds_length": 9180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023067.2"
}
],
"gene_symbol": "SMG1",
"gene_hgnc_id": 30045,
"dbsnp": "rs764873531",
"frequency_reference_population": 0.000010007043,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.00000898649,
"gnomad_genomes_af": 0.0000197034,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7799999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.162,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_015092.5",
"gene_symbol": "SMG1",
"hgnc_id": 30045,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.9811T>C",
"hgvs_p": "p.Leu3271Leu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}