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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: 8-31167168-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=31167168&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "WRN",
"hgnc_id": 12791,
"hgvs_c": "c.4129G>A",
"hgvs_p": "p.Gly1377Ser",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_000553.6",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000253961",
"hgnc_id": 58431,
"hgvs_c": "n.206C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000521252.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 18,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0631,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.73,
"chr": "8",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Werner syndrome",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.019204020500183105,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1432,
"aa_ref": "G",
"aa_start": 1377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7575,
"cdna_start": 4369,
"cds_end": null,
"cds_length": 4299,
"cds_start": 4129,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "NM_000553.6",
"gene_hgnc_id": 12791,
"gene_symbol": "WRN",
"hgvs_c": "c.4129G>A",
"hgvs_p": "p.Gly1377Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000298139.7",
"protein_coding": true,
"protein_id": "NP_000544.2",
"strand": true,
"transcript": "NM_000553.6",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1432,
"aa_ref": "G",
"aa_start": 1377,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7575,
"cdna_start": 4369,
"cds_end": null,
"cds_length": 4299,
"cds_start": 4129,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000298139.7",
"gene_hgnc_id": 12791,
"gene_symbol": "WRN",
"hgvs_c": "c.4129G>A",
"hgvs_p": "p.Gly1377Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000553.6",
"protein_coding": true,
"protein_id": "ENSP00000298139.5",
"strand": true,
"transcript": "ENST00000298139.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3593,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000521620.5",
"gene_hgnc_id": 12791,
"gene_symbol": "WRN",
"hgvs_c": "n.2762G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000521620.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1437,
"aa_ref": "G",
"aa_start": 1382,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5171,
"cdna_start": 4356,
"cds_end": null,
"cds_length": 4314,
"cds_start": 4144,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000966176.1",
"gene_hgnc_id": 12791,
"gene_symbol": "WRN",
"hgvs_c": "c.4144G>A",
"hgvs_p": "p.Gly1382Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636235.1",
"strand": true,
"transcript": "ENST00000966176.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1432,
"aa_ref": "G",
"aa_start": 1377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5201,
"cdna_start": 4380,
"cds_end": null,
"cds_length": 4299,
"cds_start": 4129,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000860283.1",
"gene_hgnc_id": 12791,
"gene_symbol": "WRN",
"hgvs_c": "c.4129G>A",
"hgvs_p": "p.Gly1377Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530342.1",
"strand": true,
"transcript": "ENST00000860283.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1432,
"aa_ref": "G",
"aa_start": 1377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4765,
"cdna_start": 4294,
"cds_end": null,
"cds_length": 4299,
"cds_start": 4129,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000860286.1",
"gene_hgnc_id": 12791,
"gene_symbol": "WRN",
"hgvs_c": "c.4129G>A",
"hgvs_p": "p.Gly1377Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530345.1",
"strand": true,
"transcript": "ENST00000860286.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1432,
"aa_ref": "G",
"aa_start": 1377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5208,
"cdna_start": 4384,
"cds_end": null,
"cds_length": 4299,
"cds_start": 4129,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000928034.1",
"gene_hgnc_id": 12791,
"gene_symbol": "WRN",
"hgvs_c": "c.4129G>A",
"hgvs_p": "p.Gly1377Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598093.1",
"strand": true,
"transcript": "ENST00000928034.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1431,
"aa_ref": "G",
"aa_start": 1376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5212,
"cdna_start": 4388,
"cds_end": null,
"cds_length": 4296,
"cds_start": 4126,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000928033.1",
"gene_hgnc_id": 12791,
"gene_symbol": "WRN",
"hgvs_c": "c.4126G>A",
"hgvs_p": "p.Gly1376Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598092.1",
"strand": true,
"transcript": "ENST00000928033.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1426,
"aa_ref": "G",
"aa_start": 1377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5208,
"cdna_start": 4400,
"cds_end": null,
"cds_length": 4281,
"cds_start": 4129,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000966175.1",
"gene_hgnc_id": 12791,
"gene_symbol": "WRN",
"hgvs_c": "c.4129G>A",
"hgvs_p": "p.Gly1377Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636234.1",
"strand": true,
"transcript": "ENST00000966175.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1401,
"aa_ref": "G",
"aa_start": 1346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4770,
"cdna_start": 4298,
"cds_end": null,
"cds_length": 4206,
"cds_start": 4036,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000860285.1",
"gene_hgnc_id": 12791,
"gene_symbol": "WRN",
"hgvs_c": "c.4036G>A",
"hgvs_p": "p.Gly1346Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530344.1",
"strand": true,
"transcript": "ENST00000860285.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1382,
"aa_ref": "G",
"aa_start": 1327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5046,
"cdna_start": 4222,
"cds_end": null,
"cds_length": 4149,
"cds_start": 3979,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000860284.1",
"gene_hgnc_id": 12791,
"gene_symbol": "WRN",
"hgvs_c": "c.3979G>A",
"hgvs_p": "p.Gly1327Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530343.1",
"strand": true,
"transcript": "ENST00000860284.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1405,
"aa_ref": "G",
"aa_start": 1350,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7494,
"cdna_start": 4288,
"cds_end": null,
"cds_length": 4218,
"cds_start": 4048,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "XM_011544639.4",
"gene_hgnc_id": 12791,
"gene_symbol": "WRN",
"hgvs_c": "c.4048G>A",
"hgvs_p": "p.Gly1350Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542941.1",
"strand": true,
"transcript": "XM_011544639.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 899,
"aa_ref": "G",
"aa_start": 844,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5836,
"cdna_start": 2630,
"cds_end": null,
"cds_length": 2700,
"cds_start": 2530,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_011544640.2",
"gene_hgnc_id": 12791,
"gene_symbol": "WRN",
"hgvs_c": "c.2530G>A",
"hgvs_p": "p.Gly844Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542942.1",
"strand": true,
"transcript": "XM_011544640.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 296,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000521252.1",
"gene_hgnc_id": 58431,
"gene_symbol": "ENSG00000253961",
"hgvs_c": "n.206C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000521252.1",
"transcript_support_level": 5
},
{
"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": 5051,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 34,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000650667.1",
"gene_hgnc_id": 12791,
"gene_symbol": "WRN",
"hgvs_c": "n.*3743G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498593.1",
"strand": true,
"transcript": "ENST00000650667.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 772,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000651946.1",
"gene_hgnc_id": 12791,
"gene_symbol": "WRN",
"hgvs_c": "n.353G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000651946.1",
"transcript_support_level": null
},
{
"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": 5051,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 34,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000650667.1",
"gene_hgnc_id": 12791,
"gene_symbol": "WRN",
"hgvs_c": "n.*3743G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498593.1",
"strand": true,
"transcript": "ENST00000650667.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4395,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_949470.4",
"gene_hgnc_id": 12791,
"gene_symbol": "WRN",
"hgvs_c": "n.*65G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_949470.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4758,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_949471.4",
"gene_hgnc_id": 12791,
"gene_symbol": "WRN",
"hgvs_c": "n.*65G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_949471.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4672,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_949472.4",
"gene_hgnc_id": 12791,
"gene_symbol": "WRN",
"hgvs_c": "n.*60G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_949472.4",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs760127655",
"effect": "missense_variant",
"frequency_reference_population": 0.000011158625,
"gene_hgnc_id": 12791,
"gene_symbol": "WRN",
"gnomad_exomes_ac": 17,
"gnomad_exomes_af": 0.0000116351,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657851,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Werner syndrome",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.209,
"pos": 31167168,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.028,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_000553.6"
}
]
}