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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: 3-113268444-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=113268444&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "BOC",
"hgnc_id": 17173,
"hgvs_c": "c.522A>C",
"hgvs_p": "p.Arg174Ser",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001301861.2",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "LOC124909409",
"hgnc_id": null,
"hgvs_c": "n.-145T>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -2,
"transcript": "XR_007096006.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 469,
"alphamissense_prediction": null,
"alphamissense_score": 0.3901,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.1,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.159784197807312,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "R",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4574,
"cdna_start": 1151,
"cds_end": null,
"cds_length": 3348,
"cds_start": 522,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001378074.1",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.522A>C",
"hgvs_p": "p.Arg174Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000682979.1",
"protein_coding": true,
"protein_id": "NP_001365003.1",
"strand": true,
"transcript": "NM_001378074.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "R",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4574,
"cdna_start": 1151,
"cds_end": null,
"cds_length": 3348,
"cds_start": 522,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000682979.1",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.522A>C",
"hgvs_p": "p.Arg174Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001378074.1",
"protein_coding": true,
"protein_id": "ENSP00000507783.1",
"strand": true,
"transcript": "ENST00000682979.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "R",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4276,
"cdna_start": 861,
"cds_end": null,
"cds_length": 3348,
"cds_start": 522,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000273395.8",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.522A>C",
"hgvs_p": "p.Arg174Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000273395.4",
"strand": true,
"transcript": "ENST00000273395.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1114,
"aa_ref": "R",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4646,
"cdna_start": 1226,
"cds_end": null,
"cds_length": 3345,
"cds_start": 522,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000495514.5",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.522A>C",
"hgvs_p": "p.Arg174Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418663.1",
"strand": true,
"transcript": "ENST00000495514.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1149,
"aa_ref": "R",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4461,
"cdna_start": 932,
"cds_end": null,
"cds_length": 3450,
"cds_start": 522,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000928198.1",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.522A>C",
"hgvs_p": "p.Arg174Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598257.1",
"strand": true,
"transcript": "ENST00000928198.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1149,
"aa_ref": "R",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4676,
"cdna_start": 1148,
"cds_end": null,
"cds_length": 3450,
"cds_start": 522,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000959895.1",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.522A>C",
"hgvs_p": "p.Arg174Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629954.1",
"strand": true,
"transcript": "ENST00000959895.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1149,
"aa_ref": "R",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4545,
"cdna_start": 1025,
"cds_end": null,
"cds_length": 3450,
"cds_start": 522,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000959901.1",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.522A>C",
"hgvs_p": "p.Arg174Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629960.1",
"strand": true,
"transcript": "ENST00000959901.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1148,
"aa_ref": "R",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4673,
"cdna_start": 1147,
"cds_end": null,
"cds_length": 3447,
"cds_start": 522,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000909640.1",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.522A>C",
"hgvs_p": "p.Arg174Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579699.1",
"strand": true,
"transcript": "ENST00000909640.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1148,
"aa_ref": "R",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4569,
"cdna_start": 1050,
"cds_end": null,
"cds_length": 3447,
"cds_start": 522,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000959900.1",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.522A>C",
"hgvs_p": "p.Arg174Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629959.1",
"strand": true,
"transcript": "ENST00000959900.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "R",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4696,
"cdna_start": 1273,
"cds_end": null,
"cds_length": 3348,
"cds_start": 522,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001301861.2",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.522A>C",
"hgvs_p": "p.Arg174Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001288790.1",
"strand": true,
"transcript": "NM_001301861.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "R",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4578,
"cdna_start": 1155,
"cds_end": null,
"cds_length": 3348,
"cds_start": 522,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001378073.1",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.522A>C",
"hgvs_p": "p.Arg174Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365002.1",
"strand": true,
"transcript": "NM_001378073.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 1115,
"aa_ref": "R",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4692,
"cdna_start": 1269,
"cds_end": null,
"cds_length": 3348,
"cds_start": 522,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001387919.1",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.522A>C",
"hgvs_p": "p.Arg174Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374848.1",
"strand": true,
"transcript": "NM_001387919.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 1115,
"aa_ref": "R",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4254,
"cdna_start": 842,
"cds_end": null,
"cds_length": 3348,
"cds_start": 522,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000909635.1",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.522A>C",
"hgvs_p": "p.Arg174Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579694.1",
"strand": true,
"transcript": "ENST00000909635.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 1115,
"aa_ref": "R",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4675,
"cdna_start": 1252,
"cds_end": null,
"cds_length": 3348,
"cds_start": 522,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000909636.1",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.522A>C",
"hgvs_p": "p.Arg174Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579695.1",
"strand": true,
"transcript": "ENST00000909636.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "R",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4243,
"cdna_start": 1352,
"cds_end": null,
"cds_length": 3348,
"cds_start": 522,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 21,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000909645.1",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.522A>C",
"hgvs_p": "p.Arg174Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579704.1",
"strand": true,
"transcript": "ENST00000909645.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "R",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4087,
"cdna_start": 1196,
"cds_end": null,
"cds_length": 3348,
"cds_start": 522,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000909646.1",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.522A>C",
"hgvs_p": "p.Arg174Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579705.1",
"strand": true,
"transcript": "ENST00000909646.1",
"transcript_support_level": null
},
{
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"aa_length": 1115,
"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4050,
"cdna_start": 1159,
"cds_end": null,
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"cds_start": 522,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000909651.1",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.522A>C",
"hgvs_p": "p.Arg174Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579710.1",
"strand": true,
"transcript": "ENST00000909651.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "R",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4061,
"cdna_start": 1170,
"cds_end": null,
"cds_length": 3348,
"cds_start": 522,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000909652.1",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.522A>C",
"hgvs_p": "p.Arg174Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579711.1",
"strand": true,
"transcript": "ENST00000909652.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "R",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3760,
"cdna_start": 869,
"cds_end": null,
"cds_length": 3348,
"cds_start": 522,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000909654.1",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.522A>C",
"hgvs_p": "p.Arg174Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579713.1",
"strand": true,
"transcript": "ENST00000909654.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "R",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4452,
"cdna_start": 1029,
"cds_end": null,
"cds_length": 3348,
"cds_start": 522,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000928196.1",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.522A>C",
"hgvs_p": "p.Arg174Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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