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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: 17-2065632-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=2065632&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 2065632,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_017575.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.3883C>A",
"hgvs_p": "p.Arg1295Arg",
"transcript": "NM_017575.5",
"protein_id": "NP_060045.4",
"transcript_support_level": null,
"aa_start": 1295,
"aa_end": null,
"aa_length": 1419,
"cds_start": 3883,
"cds_end": null,
"cds_length": 4260,
"cdna_start": 3948,
"cdna_end": null,
"cdna_length": 5974,
"mane_select": "ENST00000263073.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017575.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.3883C>A",
"hgvs_p": "p.Arg1295Arg",
"transcript": "ENST00000263073.11",
"protein_id": "ENSP00000263073.5",
"transcript_support_level": 1,
"aa_start": 1295,
"aa_end": null,
"aa_length": 1419,
"cds_start": 3883,
"cds_end": null,
"cds_length": 4260,
"cdna_start": 3948,
"cdna_end": null,
"cdna_length": 5974,
"mane_select": "NM_017575.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263073.11"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.1159C>A",
"hgvs_p": "p.Arg387Arg",
"transcript": "ENST00000354901.8",
"protein_id": "ENSP00000346977.4",
"transcript_support_level": 1,
"aa_start": 387,
"aa_end": null,
"aa_length": 511,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1454,
"cdna_end": null,
"cdna_length": 3473,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354901.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "n.2213C>A",
"hgvs_p": null,
"transcript": "ENST00000573166.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4236,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000573166.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.3706C>A",
"hgvs_p": "p.Arg1236Arg",
"transcript": "ENST00000883972.1",
"protein_id": "ENSP00000554031.1",
"transcript_support_level": null,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1360,
"cds_start": 3706,
"cds_end": null,
"cds_length": 4083,
"cdna_start": 3764,
"cdna_end": null,
"cdna_length": 5790,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883972.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.1159C>A",
"hgvs_p": "p.Arg387Arg",
"transcript": "NM_001256827.2",
"protein_id": "NP_001243756.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 511,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1440,
"cdna_end": null,
"cdna_length": 3466,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256827.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.1159C>A",
"hgvs_p": "p.Arg387Arg",
"transcript": "NM_001256828.1",
"protein_id": "NP_001243757.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 511,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 3241,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256828.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.1159C>A",
"hgvs_p": "p.Arg387Arg",
"transcript": "ENST00000536871.6",
"protein_id": "ENSP00000440283.2",
"transcript_support_level": 2,
"aa_start": 387,
"aa_end": null,
"aa_length": 511,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1401,
"cdna_end": null,
"cdna_length": 1865,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536871.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.616C>A",
"hgvs_p": "p.Arg206Arg",
"transcript": "NM_001282326.2",
"protein_id": "NP_001269255.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 330,
"cds_start": 616,
"cds_end": null,
"cds_length": 993,
"cdna_start": 2213,
"cdna_end": null,
"cdna_length": 4239,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282326.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.3790C>A",
"hgvs_p": "p.Arg1264Arg",
"transcript": "XM_005256569.5",
"protein_id": "XP_005256626.1",
"transcript_support_level": null,
"aa_start": 1264,
"aa_end": null,
"aa_length": 1388,
"cds_start": 3790,
"cds_end": null,
"cds_length": 4167,
"cdna_start": 4129,
"cdna_end": null,
"cdna_length": 6159,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005256569.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.3790C>A",
"hgvs_p": "p.Arg1264Arg",
"transcript": "XM_011523769.3",
"protein_id": "XP_011522071.1",
"transcript_support_level": null,
"aa_start": 1264,
"aa_end": null,
"aa_length": 1388,
"cds_start": 3790,
"cds_end": null,
"cds_length": 4167,
"cdna_start": 4091,
"cdna_end": null,
"cdna_length": 6121,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523769.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.3790C>A",
"hgvs_p": "p.Arg1264Arg",
"transcript": "XM_047435696.1",
"protein_id": "XP_047291652.1",
"transcript_support_level": null,
"aa_start": 1264,
"aa_end": null,
"aa_length": 1388,
"cds_start": 3790,
"cds_end": null,
"cds_length": 4167,
"cdna_start": 3938,
"cdna_end": null,
"cdna_length": 5968,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435696.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.1159C>A",
"hgvs_p": "p.Arg387Arg",
"transcript": "XM_005256571.6",
"protein_id": "XP_005256628.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 511,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 3202,
"cdna_end": null,
"cdna_length": 5232,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005256571.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.1159C>A",
"hgvs_p": "p.Arg387Arg",
"transcript": "XM_011523775.3",
"protein_id": "XP_011522077.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 511,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1478,
"cdna_end": null,
"cdna_length": 3508,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523775.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.1159C>A",
"hgvs_p": "p.Arg387Arg",
"transcript": "XM_017024399.3",
"protein_id": "XP_016879888.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 511,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1240,
"cdna_end": null,
"cdna_length": 3270,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024399.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.1159C>A",
"hgvs_p": "p.Arg387Arg",
"transcript": "XM_047435699.1",
"protein_id": "XP_047291655.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 511,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1240,
"cdna_end": null,
"cdna_length": 3270,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435699.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.616C>A",
"hgvs_p": "p.Arg206Arg",
"transcript": "XM_047435700.1",
"protein_id": "XP_047291656.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 330,
"cds_start": 616,
"cds_end": null,
"cds_length": 993,
"cdna_start": 730,
"cdna_end": null,
"cdna_length": 2760,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435700.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "n.433C>A",
"hgvs_p": null,
"transcript": "ENST00000570756.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2426,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000570756.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "n.135C>A",
"hgvs_p": null,
"transcript": "ENST00000573153.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 552,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000573153.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "n.283C>A",
"hgvs_p": null,
"transcript": "ENST00000573827.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 601,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000573827.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "n.407C>A",
"hgvs_p": null,
"transcript": "ENST00000576218.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 902,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000576218.5"
}
],
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"dbsnp": "rs201641597",
"frequency_reference_population": 6.8421355e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84214e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4000000059604645,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.759,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_017575.5",
"gene_symbol": "SMG6",
"hgnc_id": 17809,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3883C>A",
"hgvs_p": "p.Arg1295Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}