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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: 3-15259025-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=15259025&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SH3BP5",
"hgnc_id": 10827,
"hgvs_c": "c.695T>A",
"hgvs_p": "p.Leu232Gln",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_004844.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "SH3BP5-AS1",
"hgnc_id": 44501,
"hgvs_c": "n.3815A>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000420195.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": 0.2938,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.09,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8306176662445068,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 455,
"aa_ref": "L",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3279,
"cdna_start": 873,
"cds_end": null,
"cds_length": 1368,
"cds_start": 695,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_004844.5",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.695T>A",
"hgvs_p": "p.Leu232Gln",
"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": "L",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3279,
"cdna_start": 873,
"cds_end": null,
"cds_length": 1368,
"cds_start": 695,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000383791.8",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.695T>A",
"hgvs_p": "p.Leu232Gln",
"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": "L",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1880,
"cdna_start": 771,
"cds_end": null,
"cds_length": 897,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000408919.7",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.224T>A",
"hgvs_p": "p.Leu75Gln",
"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": 2,
"exon_rank_end": null,
"feature": "ENST00000420195.1",
"gene_hgnc_id": 44501,
"gene_symbol": "SH3BP5-AS1",
"hgvs_c": "n.3815A>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": "L",
"aa_start": 252,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2031,
"cdna_start": 862,
"cds_end": null,
"cds_length": 1428,
"cds_start": 755,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000947043.1",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.755T>A",
"hgvs_p": "p.Leu252Gln",
"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": "L",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2777,
"cdna_start": 881,
"cds_end": null,
"cds_length": 1365,
"cds_start": 695,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000947042.1",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.695T>A",
"hgvs_p": "p.Leu232Gln",
"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": 400,
"aa_ref": "L",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2626,
"cdna_start": 717,
"cds_end": null,
"cds_length": 1203,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000885926.1",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.530T>A",
"hgvs_p": "p.Leu177Gln",
"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": "L",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1783,
"cdna_start": 696,
"cds_end": null,
"cds_length": 1200,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000947046.1",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.530T>A",
"hgvs_p": "p.Leu177Gln",
"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": "L",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1780,
"cdna_start": 690,
"cds_end": null,
"cds_length": 1194,
"cds_start": 521,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000947045.1",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.521T>A",
"hgvs_p": "p.Leu174Gln",
"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": "L",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2733,
"cdna_start": 1064,
"cds_end": null,
"cds_length": 1107,
"cds_start": 695,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000885924.1",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.695T>A",
"hgvs_p": "p.Leu232Gln",
"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": 357,
"aa_ref": "L",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1673,
"cdna_start": 580,
"cds_end": null,
"cds_length": 1074,
"cds_start": 401,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000947044.1",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.401T>A",
"hgvs_p": "p.Leu134Gln",
"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": "L",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2312,
"cdna_start": 667,
"cds_end": null,
"cds_length": 942,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000885928.1",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.530T>A",
"hgvs_p": "p.Leu177Gln",
"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": "L",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3189,
"cdna_start": 783,
"cds_end": null,
"cds_length": 897,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001018009.4",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.224T>A",
"hgvs_p": "p.Leu75Gln",
"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": "L",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2190,
"cdna_start": 1020,
"cds_end": null,
"cds_length": 897,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000426925.5",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.224T>A",
"hgvs_p": "p.Leu75Gln",
"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": 127,
"aa_ref": "L",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 903,
"cdna_start": 743,
"cds_end": null,
"cds_length": 384,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000366391.6",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.224T>A",
"hgvs_p": "p.Leu75Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394115.1",
"strand": false,
"transcript": "ENST00000366391.6",
"transcript_support_level": 3
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 448,
"aa_ref": "L",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3131,
"cdna_start": 725,
"cds_end": null,
"cds_length": 1347,
"cds_start": 674,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017007525.2",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.674T>A",
"hgvs_p": "p.Leu225Gln",
"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": "L",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3297,
"cdna_start": 891,
"cds_end": null,
"cds_length": 1329,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047449240.1",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.656T>A",
"hgvs_p": "p.Leu219Gln",
"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": "L",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3143,
"cdna_start": 737,
"cds_end": null,
"cds_length": 1248,
"cds_start": 575,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011534251.3",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.575T>A",
"hgvs_p": "p.Leu192Gln",
"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": "L",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3018,
"cdna_start": 873,
"cds_end": null,
"cds_length": 1107,
"cds_start": 695,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047449241.1",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.695T>A",
"hgvs_p": "p.Leu232Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305197.1",
"strand": false,
"transcript": "XM_047449241.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 328,
"aa_ref": "L",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2882,
"cdna_start": 737,
"cds_end": null,
"cds_length": 987,
"cds_start": 575,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047449242.1",
"gene_hgnc_id": 10827,
"gene_symbol": "SH3BP5",
"hgvs_c": "c.575T>A",
"hgvs_p": "p.Leu192Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305198.1",
"strand": false,
"transcript": "XM_047449242.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 298,
"aa_ref": "L",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3035,
"cdna_start": 629,
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