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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: 11-72302339-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72302339&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"PM5",
"BP6_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CLPB",
"hgnc_id": 30664,
"hgvs_c": "c.1222A>T",
"hgvs_p": "p.Arg408Trp",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": -4,
"transcript": "NM_030813.6",
"verdict": "Likely_benign"
},
{
"benign_score": 6,
"criteria": [
"BP6_Moderate",
"BS2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000255843",
"hgnc_id": null,
"hgvs_c": "n.201T>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -6,
"transcript": "ENST00000546065.1",
"verdict": "Likely_benign"
},
{
"benign_score": 6,
"criteria": [
"BP6_Moderate",
"BS2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "LOC124902708",
"hgnc_id": null,
"hgvs_c": "n.1921T>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -6,
"transcript": "XR_007062766.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM5,BP6_Moderate,BS2",
"acmg_score": -4,
"allele_count_reference_population": 152,
"alphamissense_prediction": null,
"alphamissense_score": 0.9879,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.14,
"chr": "11",
"clinvar_classification": "Likely benign",
"clinvar_disease": " type VIIB,3-methylglutaconic aciduria",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7102296352386475,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 707,
"aa_ref": "R",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10053,
"cdna_start": 1279,
"cds_end": null,
"cds_length": 2124,
"cds_start": 1222,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_030813.6",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1222A>T",
"hgvs_p": "p.Arg408Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000294053.9",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_110440.1",
"strand": false,
"transcript": "NM_030813.6",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 707,
"aa_ref": "R",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10053,
"cdna_start": 1279,
"cds_end": null,
"cds_length": 2124,
"cds_start": 1222,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000294053.9",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1222A>T",
"hgvs_p": "p.Arg408Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_030813.6",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000294053.3",
"strand": false,
"transcript": "ENST00000294053.9",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 677,
"aa_ref": "R",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9963,
"cdna_start": 1189,
"cds_end": null,
"cds_length": 2034,
"cds_start": 1132,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001258392.3",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1132A>T",
"hgvs_p": "p.Arg378Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000538039.6",
"protein_coding": true,
"protein_id": "NP_001245321.1",
"strand": false,
"transcript": "NM_001258392.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 677,
"aa_ref": "R",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9963,
"cdna_start": 1189,
"cds_end": null,
"cds_length": 2034,
"cds_start": 1132,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000538039.6",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1132A>T",
"hgvs_p": "p.Arg378Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001258392.3",
"protein_coding": true,
"protein_id": "ENSP00000441518.1",
"strand": false,
"transcript": "ENST00000538039.6",
"transcript_support_level": 2
},
{
"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": 1108,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000538021.5",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "n.149A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000445180.2",
"strand": false,
"transcript": "ENST00000538021.5",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 698,
"aa_ref": "R",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2218,
"cdna_start": 1247,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1195,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000955687.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1195A>T",
"hgvs_p": "p.Arg399Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625746.1",
"strand": false,
"transcript": "ENST00000955687.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 688,
"aa_ref": "R",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3230,
"cdna_start": 1215,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1132,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000955683.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1132A>T",
"hgvs_p": "p.Arg378Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625742.1",
"strand": false,
"transcript": "ENST00000955683.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 687,
"aa_ref": "R",
"aa_start": 388,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2359,
"cdna_start": 1239,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1162,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000866363.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1162A>T",
"hgvs_p": "p.Arg388Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536422.1",
"strand": false,
"transcript": "ENST00000866363.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 676,
"aa_ref": "R",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2150,
"cdna_start": 1179,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1129,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000955688.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1129A>T",
"hgvs_p": "p.Arg377Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625747.1",
"strand": false,
"transcript": "ENST00000955688.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 672,
"aa_ref": "R",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2153,
"cdna_start": 1182,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1117,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000955686.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1117A>T",
"hgvs_p": "p.Arg373Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625745.1",
"strand": false,
"transcript": "ENST00000955686.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 662,
"aa_ref": "R",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10160,
"cdna_start": 1386,
"cds_end": null,
"cds_length": 1989,
"cds_start": 1087,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001258394.3",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1087A>T",
"hgvs_p": "p.Arg363Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001245323.1",
"strand": false,
"transcript": "NM_001258394.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 651,
"aa_ref": "R",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2076,
"cdna_start": 1108,
"cds_end": null,
"cds_length": 1956,
"cds_start": 1054,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000938927.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1054A>T",
"hgvs_p": "p.Arg352Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608986.1",
"strand": false,
"transcript": "ENST00000938927.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 648,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9876,
"cdna_start": 1102,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1045,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001258393.3",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1045A>T",
"hgvs_p": "p.Arg349Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001245322.1",
"strand": false,
"transcript": "NM_001258393.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 648,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2071,
"cdna_start": 1105,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1045,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000340729.9",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1045A>T",
"hgvs_p": "p.Arg349Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340385.5",
"strand": false,
"transcript": "ENST00000340729.9",
"transcript_support_level": 2
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 637,
"aa_ref": "R",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2065,
"cdna_start": 1215,
"cds_end": null,
"cds_length": 1914,
"cds_start": 1132,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000955685.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1132A>T",
"hgvs_p": "p.Arg378Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625744.1",
"strand": false,
"transcript": "ENST00000955685.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 634,
"aa_ref": "R",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2067,
"cdna_start": 1062,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1003,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000955684.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1003A>T",
"hgvs_p": "p.Arg335Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625743.1",
"strand": false,
"transcript": "ENST00000955684.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 573,
"aa_ref": "R",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1875,
"cdna_start": 877,
"cds_end": null,
"cds_length": 1722,
"cds_start": 820,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000866364.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.820A>T",
"hgvs_p": "p.Arg274Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536423.1",
"strand": false,
"transcript": "ENST00000866364.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 381,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1421,
"cdna_start": 894,
"cds_end": null,
"cds_length": 1146,
"cds_start": 619,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000642288.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.619A>T",
"hgvs_p": "p.Arg207Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495167.1",
"strand": false,
"transcript": "ENST00000642288.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 678,
"aa_ref": "R",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9966,
"cdna_start": 1192,
"cds_end": null,
"cds_length": 2037,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_005274320.2",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1135A>T",
"hgvs_p": "p.Arg379Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005274377.1",
"strand": false,
"transcript": "XM_005274320.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 632,
"aa_ref": "R",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10070,
"cdna_start": 1296,
"cds_end": null,
"cds_length": 1899,
"cds_start": 997,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047427655.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
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