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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: 11-8618940-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=8618940&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TRIM66",
"hgnc_id": 29005,
"hgvs_c": "c.3929G>T",
"hgvs_p": "p.Arg1310Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001388022.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 13,
"alphamissense_prediction": null,
"alphamissense_score": 0.482,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.2,
"chr": "11",
"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": 0.40301334857940674,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1392,
"aa_ref": "R",
"aa_start": 1310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10695,
"cdna_start": 4541,
"cds_end": null,
"cds_length": 4179,
"cds_start": 3929,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001388022.1",
"gene_hgnc_id": 29005,
"gene_symbol": "TRIM66",
"hgvs_c": "c.3929G>T",
"hgvs_p": "p.Arg1310Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000646038.2",
"protein_coding": true,
"protein_id": "NP_001374951.1",
"strand": false,
"transcript": "NM_001388022.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1392,
"aa_ref": "R",
"aa_start": 1310,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10695,
"cdna_start": 4541,
"cds_end": null,
"cds_length": 4179,
"cds_start": 3929,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000646038.2",
"gene_hgnc_id": 29005,
"gene_symbol": "TRIM66",
"hgvs_c": "c.3929G>T",
"hgvs_p": "p.Arg1310Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001388022.1",
"protein_coding": true,
"protein_id": "ENSP00000495413.1",
"strand": false,
"transcript": "ENST00000646038.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1364,
"aa_ref": "R",
"aa_start": 1282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11047,
"cdna_start": 4893,
"cds_end": null,
"cds_length": 4095,
"cds_start": 3845,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001388024.1",
"gene_hgnc_id": 29005,
"gene_symbol": "TRIM66",
"hgvs_c": "c.3845G>T",
"hgvs_p": "p.Arg1282Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374953.1",
"strand": false,
"transcript": "NM_001388024.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1355,
"aa_ref": "R",
"aa_start": 1273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10584,
"cdna_start": 4430,
"cds_end": null,
"cds_length": 4068,
"cds_start": 3818,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001388023.1",
"gene_hgnc_id": 29005,
"gene_symbol": "TRIM66",
"hgvs_c": "c.3818G>T",
"hgvs_p": "p.Arg1273Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374952.1",
"strand": false,
"transcript": "NM_001388023.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1355,
"aa_ref": "R",
"aa_start": 1273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10551,
"cdna_start": 4397,
"cds_end": null,
"cds_length": 4068,
"cds_start": 3818,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000705689.1",
"gene_hgnc_id": 29005,
"gene_symbol": "TRIM66",
"hgvs_c": "c.3818G>T",
"hgvs_p": "p.Arg1273Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516162.1",
"strand": false,
"transcript": "ENST00000705689.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1247,
"aa_ref": "R",
"aa_start": 1165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6344,
"cdna_start": 3689,
"cds_end": null,
"cds_length": 3744,
"cds_start": 3494,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000705690.1",
"gene_hgnc_id": 29005,
"gene_symbol": "TRIM66",
"hgvs_c": "c.3494G>T",
"hgvs_p": "p.Arg1165Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516163.1",
"strand": false,
"transcript": "ENST00000705690.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1239,
"aa_ref": "R",
"aa_start": 1165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10202,
"cdna_start": 4017,
"cds_end": null,
"cds_length": 3720,
"cds_start": 3494,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000525788.2",
"gene_hgnc_id": 29005,
"gene_symbol": "TRIM66",
"hgvs_c": "c.3494G>T",
"hgvs_p": "p.Arg1165Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516161.1",
"strand": false,
"transcript": "ENST00000525788.2",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1216,
"aa_ref": "R",
"aa_start": 1134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9800,
"cdna_start": 3646,
"cds_end": null,
"cds_length": 3651,
"cds_start": 3401,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_014818.2",
"gene_hgnc_id": 29005,
"gene_symbol": "TRIM66",
"hgvs_c": "c.3401G>T",
"hgvs_p": "p.Arg1134Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055633.1",
"strand": false,
"transcript": "NM_014818.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 327,
"aa_ref": "R",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 988,
"cdna_start": 925,
"cds_end": null,
"cds_length": 986,
"cds_start": 923,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000530502.2",
"gene_hgnc_id": 29005,
"gene_symbol": "TRIM66",
"hgvs_c": "c.923G>T",
"hgvs_p": "p.Arg308Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437234.2",
"strand": false,
"transcript": "ENST00000530502.2",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1392,
"aa_ref": "R",
"aa_start": 1310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10731,
"cdna_start": 4577,
"cds_end": null,
"cds_length": 4179,
"cds_start": 3929,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_011520504.1",
"gene_hgnc_id": 29005,
"gene_symbol": "TRIM66",
"hgvs_c": "c.3929G>T",
"hgvs_p": "p.Arg1310Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011518806.1",
"strand": false,
"transcript": "XM_011520504.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1392,
"aa_ref": "R",
"aa_start": 1310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10628,
"cdna_start": 4474,
"cds_end": null,
"cds_length": 4179,
"cds_start": 3929,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_011520507.4",
"gene_hgnc_id": 29005,
"gene_symbol": "TRIM66",
"hgvs_c": "c.3929G>T",
"hgvs_p": "p.Arg1310Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011518809.1",
"strand": false,
"transcript": "XM_011520507.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1392,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11095,
"cdna_start": 4941,
"cds_end": null,
"cds_length": 4179,
"cds_start": 3929,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_017018629.2",
"gene_hgnc_id": 29005,
"gene_symbol": "TRIM66",
"hgvs_c": "c.3929G>T",
"hgvs_p": "p.Arg1310Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016874118.1",
"strand": false,
"transcript": "XM_017018629.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1385,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10738,
"cdna_start": 4541,
"cds_end": null,
"cds_length": 4158,
"cds_start": 3929,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_011520508.3",
"gene_hgnc_id": 29005,
"gene_symbol": "TRIM66",
"hgvs_c": "c.3929G>T",
"hgvs_p": "p.Arg1310Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011518810.1",
"strand": false,
"transcript": "XM_011520508.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1367,
"aa_ref": "R",
"aa_start": 1285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10620,
"cdna_start": 4466,
"cds_end": null,
"cds_length": 4104,
"cds_start": 3854,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_011520509.2",
"gene_hgnc_id": 29005,
"gene_symbol": "TRIM66",
"hgvs_c": "c.3854G>T",
"hgvs_p": "p.Arg1285Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011518811.1",
"strand": false,
"transcript": "XM_011520509.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1364,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10611,
"cdna_start": 4457,
"cds_end": null,
"cds_length": 4095,
"cds_start": 3845,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_011520510.2",
"gene_hgnc_id": 29005,
"gene_symbol": "TRIM66",
"hgvs_c": "c.3845G>T",
"hgvs_p": "p.Arg1282Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011518812.1",
"strand": false,
"transcript": "XM_011520510.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1364,
"aa_ref": "R",
"aa_start": 1282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10647,
"cdna_start": 4493,
"cds_end": null,
"cds_length": 4095,
"cds_start": 3845,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_047427940.1",
"gene_hgnc_id": 29005,
"gene_symbol": "TRIM66",
"hgvs_c": "c.3845G>T",
"hgvs_p": "p.Arg1282Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283896.1",
"strand": false,
"transcript": "XM_047427940.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1364,
"aa_ref": "R",
"aa_start": 1282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10544,
"cdna_start": 4390,
"cds_end": null,
"cds_length": 4095,
"cds_start": 3845,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_047427941.1",
"gene_hgnc_id": 29005,
"gene_symbol": "TRIM66",
"hgvs_c": "c.3845G>T",
"hgvs_p": "p.Arg1282Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283897.1",
"strand": false,
"transcript": "XM_047427941.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 10620,
"cdna_start": 4466,
"cds_end": null,
"cds_length": 4068,
"cds_start": 3818,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_047427942.1",
"gene_hgnc_id": 29005,
"gene_symbol": "TRIM66",
"hgvs_c": "c.3818G>T",
"hgvs_p": "p.Arg1273Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283898.1",
"strand": false,
"transcript": "XM_047427942.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1327,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10500,
"cdna_start": 4346,
"cds_end": null,
"cds_length": 3984,
"cds_start": 3734,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_047427943.1",
"gene_hgnc_id": 29005,
"gene_symbol": "TRIM66",
"hgvs_c": "c.3734G>T",
"hgvs_p": "p.Arg1245Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283899.1",
"strand": false,
"transcript": "XM_047427943.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1327,
"aa_ref": "R",
"aa_start": 1245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10536,
"cdna_start": 4382,
"cds_end": null,
"cds_length": 3984,
"cds_start": 3734,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_047427944.1",
"gene_hgnc_id": 29005,
"gene_symbol": "TRIM66",
"hgvs_c": "c.3734G>T",
"hgvs_p": "p.Arg1245Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283900.1",
"strand": false,
"transcript": "XM_047427944.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1306,
"aa_ref": "R",
"aa_start": 1224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9952,
"cdna_start": 3798,
"cds_end": null,
"cds_length": 3921,
"cds_start": 3671,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
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