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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: 3-15256165-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=15256165&ref=C&alt=T&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": "SH3BP5",
"hgnc_id": 10827,
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Arg430Gln",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_004844.5",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "SH3BP5-AS1",
"hgnc_id": 44501,
"hgvs_c": "n.1982C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000420195.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 47,
"alphamissense_prediction": null,
"alphamissense_score": 0.0765,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.36,
"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": 0.0667509138584137,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 455,
"aa_ref": "R",
"aa_start": 430,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3279,
"cdna_start": 1467,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1289,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_004844.5",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Arg430Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000383791.8",
"protein_coding": true,
"protein_id": "NP_004835.2",
"strand": false,
"transcript": "NM_004844.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 455,
"aa_ref": "R",
"aa_start": 430,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3279,
"cdna_start": 1467,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1289,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000383791.8",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Arg430Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004844.5",
"protein_coding": true,
"protein_id": "ENSP00000373301.3",
"strand": false,
"transcript": "ENST00000383791.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 298,
"aa_ref": "R",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1880,
"cdna_start": 1365,
"cds_end": null,
"cds_length": 897,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000408919.7",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Arg273Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386231.3",
"strand": false,
"transcript": "ENST00000408919.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5570,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000420195.1",
"gene_hgnc_id": 44501,
"gene_symbol": "SH3BP5-AS1",
"hgvs_c": "n.1982C>T",
"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": "ENST00000420195.1",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2031,
"cdna_start": 1456,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1349,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000947043.1",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.1349G>A",
"hgvs_p": "p.Arg450Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617102.1",
"strand": false,
"transcript": "ENST00000947043.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 454,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2777,
"cdna_start": 1472,
"cds_end": null,
"cds_length": 1365,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000947042.1",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617101.1",
"strand": false,
"transcript": "ENST00000947042.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 445,
"aa_ref": "R",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3422,
"cdna_start": 1610,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1259,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000885923.1",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.1259G>A",
"hgvs_p": "p.Arg420Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555982.1",
"strand": false,
"transcript": "ENST00000885923.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 402,
"aa_ref": "R",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2776,
"cdna_start": 1464,
"cds_end": null,
"cds_length": 1209,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000885925.1",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.1130G>A",
"hgvs_p": "p.Arg377Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555984.1",
"strand": false,
"transcript": "ENST00000885925.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 400,
"aa_ref": "R",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2626,
"cdna_start": 1311,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1124,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000885926.1",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.1124G>A",
"hgvs_p": "p.Arg375Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555985.1",
"strand": false,
"transcript": "ENST00000885926.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 399,
"aa_ref": "R",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1783,
"cdna_start": 1287,
"cds_end": null,
"cds_length": 1200,
"cds_start": 1121,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000947046.1",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.1121G>A",
"hgvs_p": "p.Arg374Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617105.1",
"strand": false,
"transcript": "ENST00000947046.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 397,
"aa_ref": "R",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1780,
"cdna_start": 1284,
"cds_end": null,
"cds_length": 1194,
"cds_start": 1115,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000947045.1",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.1115G>A",
"hgvs_p": "p.Arg372Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617104.1",
"strand": false,
"transcript": "ENST00000947045.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 368,
"aa_ref": "R",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2733,
"cdna_start": 1397,
"cds_end": null,
"cds_length": 1107,
"cds_start": 1028,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000885924.1",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.1028G>A",
"hgvs_p": "p.Arg343Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555983.1",
"strand": false,
"transcript": "ENST00000885924.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 358,
"aa_ref": "R",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2489,
"cdna_start": 1177,
"cds_end": null,
"cds_length": 1077,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000885927.1",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.998G>A",
"hgvs_p": "p.Arg333Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555986.1",
"strand": false,
"transcript": "ENST00000885927.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 357,
"aa_ref": "R",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1673,
"cdna_start": 1174,
"cds_end": null,
"cds_length": 1074,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000947044.1",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.995G>A",
"hgvs_p": "p.Arg332Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617103.1",
"strand": false,
"transcript": "ENST00000947044.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 313,
"aa_ref": "R",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2312,
"cdna_start": 1000,
"cds_end": null,
"cds_length": 942,
"cds_start": 863,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000885928.1",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.863G>A",
"hgvs_p": "p.Arg288Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555987.1",
"strand": false,
"transcript": "ENST00000885928.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 298,
"aa_ref": "R",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3189,
"cdna_start": 1377,
"cds_end": null,
"cds_length": 897,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001018009.4",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Arg273Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001018009.2",
"strand": false,
"transcript": "NM_001018009.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 298,
"aa_ref": "R",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2190,
"cdna_start": 1614,
"cds_end": null,
"cds_length": 897,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000426925.5",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Arg273Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388553.1",
"strand": false,
"transcript": "ENST00000426925.5",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 448,
"aa_ref": "R",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3131,
"cdna_start": 1319,
"cds_end": null,
"cds_length": 1347,
"cds_start": 1268,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017007525.2",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.1268G>A",
"hgvs_p": "p.Arg423Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016863014.2",
"strand": false,
"transcript": "XM_017007525.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 442,
"aa_ref": "R",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3297,
"cdna_start": 1485,
"cds_end": null,
"cds_length": 1329,
"cds_start": 1250,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047449240.1",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.1250G>A",
"hgvs_p": "p.Arg417Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305196.1",
"strand": false,
"transcript": "XM_047449240.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 415,
"aa_ref": "R",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3143,
"cdna_start": 1331,
"cds_end": null,
"cds_length": 1248,
"cds_start": 1169,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011534251.3",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.1169G>A",
"hgvs_p": "p.Arg390Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011532553.1",
"strand": false,
"transcript": "XM_011534251.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 368,
"aa_ref": "R",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
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}