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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: 5-146120433-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=146120433&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LARS1",
"hgnc_id": 6512,
"hgvs_c": "c.3263G>A",
"hgvs_p": "p.Arg1088Lys",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_020117.11",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "ENSG00000251556",
"hgnc_id": null,
"hgvs_c": "n.*21C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -20,
"transcript": "ENST00000514002.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 443064,
"alphamissense_prediction": null,
"alphamissense_score": 0.1502,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"chr": "5",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0032483041286468506,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1176,
"aa_ref": "R",
"aa_start": 1088,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4760,
"cdna_start": 3420,
"cds_end": null,
"cds_length": 3531,
"cds_start": 3263,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "NM_020117.11",
"gene_hgnc_id": 6512,
"gene_symbol": "LARS1",
"hgvs_c": "c.3263G>A",
"hgvs_p": "p.Arg1088Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000394434.7",
"protein_coding": true,
"protein_id": "NP_064502.9",
"strand": false,
"transcript": "NM_020117.11",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1176,
"aa_ref": "R",
"aa_start": 1088,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4760,
"cdna_start": 3420,
"cds_end": null,
"cds_length": 3531,
"cds_start": 3263,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000394434.7",
"gene_hgnc_id": 6512,
"gene_symbol": "LARS1",
"hgvs_c": "c.3263G>A",
"hgvs_p": "p.Arg1088Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020117.11",
"protein_coding": true,
"protein_id": "ENSP00000377954.2",
"strand": false,
"transcript": "ENST00000394434.7",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1216,
"aa_ref": "R",
"aa_start": 1128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3976,
"cdna_start": 3513,
"cds_end": null,
"cds_length": 3651,
"cds_start": 3383,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000908002.1",
"gene_hgnc_id": 6512,
"gene_symbol": "LARS1",
"hgvs_c": "c.3383G>A",
"hgvs_p": "p.Arg1128Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578061.1",
"strand": false,
"transcript": "ENST00000908002.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1207,
"aa_ref": "R",
"aa_start": 1119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4842,
"cdna_start": 3505,
"cds_end": null,
"cds_length": 3624,
"cds_start": 3356,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000907999.1",
"gene_hgnc_id": 6512,
"gene_symbol": "LARS1",
"hgvs_c": "c.3356G>A",
"hgvs_p": "p.Arg1119Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578058.1",
"strand": false,
"transcript": "ENST00000907999.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1206,
"aa_ref": "R",
"aa_start": 1118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3946,
"cdna_start": 3483,
"cds_end": null,
"cds_length": 3621,
"cds_start": 3353,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000923248.1",
"gene_hgnc_id": 6512,
"gene_symbol": "LARS1",
"hgvs_c": "c.3353G>A",
"hgvs_p": "p.Arg1118Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593307.1",
"strand": false,
"transcript": "ENST00000923248.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1175,
"aa_ref": "R",
"aa_start": 1087,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4768,
"cdna_start": 3437,
"cds_end": null,
"cds_length": 3528,
"cds_start": 3260,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000674398.1",
"gene_hgnc_id": 6512,
"gene_symbol": "LARS1",
"hgvs_c": "c.3260G>A",
"hgvs_p": "p.Arg1087Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501476.1",
"strand": false,
"transcript": "ENST00000674398.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1175,
"aa_ref": "R",
"aa_start": 1087,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4782,
"cdna_start": 3434,
"cds_end": null,
"cds_length": 3528,
"cds_start": 3260,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000923242.1",
"gene_hgnc_id": 6512,
"gene_symbol": "LARS1",
"hgvs_c": "c.3260G>A",
"hgvs_p": "p.Arg1087Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593301.1",
"strand": false,
"transcript": "ENST00000923242.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "R",
"aa_start": 1076,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7202,
"cdna_start": 3394,
"cds_end": null,
"cds_length": 3495,
"cds_start": 3227,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000674290.1",
"gene_hgnc_id": 6512,
"gene_symbol": "LARS1",
"hgvs_c": "c.3227G>A",
"hgvs_p": "p.Arg1076Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501435.1",
"strand": false,
"transcript": "ENST00000674290.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1158,
"aa_ref": "R",
"aa_start": 1070,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3752,
"cdna_start": 3289,
"cds_end": null,
"cds_length": 3477,
"cds_start": 3209,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000908004.1",
"gene_hgnc_id": 6512,
"gene_symbol": "LARS1",
"hgvs_c": "c.3209G>A",
"hgvs_p": "p.Arg1070Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578063.1",
"strand": false,
"transcript": "ENST00000908004.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1157,
"aa_ref": "R",
"aa_start": 1069,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3801,
"cdna_start": 3339,
"cds_end": null,
"cds_length": 3474,
"cds_start": 3206,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000970934.1",
"gene_hgnc_id": 6512,
"gene_symbol": "LARS1",
"hgvs_c": "c.3206G>A",
"hgvs_p": "p.Arg1069Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640993.1",
"strand": false,
"transcript": "ENST00000970934.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1152,
"aa_ref": "R",
"aa_start": 1064,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3809,
"cdna_start": 3346,
"cds_end": null,
"cds_length": 3459,
"cds_start": 3191,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000923244.1",
"gene_hgnc_id": 6512,
"gene_symbol": "LARS1",
"hgvs_c": "c.3191G>A",
"hgvs_p": "p.Arg1064Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593303.1",
"strand": false,
"transcript": "ENST00000923244.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1150,
"aa_ref": "R",
"aa_start": 1062,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3779,
"cdna_start": 3316,
"cds_end": null,
"cds_length": 3453,
"cds_start": 3185,
"consequences": [
"missense_variant"
],
"exon_count": 31,
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"exon_rank_end": null,
"feature": "ENST00000923247.1",
"gene_hgnc_id": 6512,
"gene_symbol": "LARS1",
"hgvs_c": "c.3185G>A",
"hgvs_p": "p.Arg1062Lys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593306.1",
"strand": false,
"transcript": "ENST00000923247.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1149,
"aa_ref": "R",
"aa_start": 1061,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4679,
"cdna_start": 3339,
"cds_end": null,
"cds_length": 3450,
"cds_start": 3182,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "NM_016460.4",
"gene_hgnc_id": 6512,
"gene_symbol": "LARS1",
"hgvs_c": "c.3182G>A",
"hgvs_p": "p.Arg1061Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_057544.2",
"strand": false,
"transcript": "NM_016460.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 1149,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7147,
"cdna_start": 3339,
"cds_end": null,
"cds_length": 3450,
"cds_start": 3182,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000674447.1",
"gene_hgnc_id": 6512,
"gene_symbol": "LARS1",
"hgvs_c": "c.3182G>A",
"hgvs_p": "p.Arg1061Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501376.1",
"strand": false,
"transcript": "ENST00000674447.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1144,
"aa_ref": "R",
"aa_start": 1056,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3734,
"cdna_start": 3271,
"cds_end": null,
"cds_length": 3435,
"cds_start": 3167,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000908003.1",
"gene_hgnc_id": 6512,
"gene_symbol": "LARS1",
"hgvs_c": "c.3167G>A",
"hgvs_p": "p.Arg1056Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578062.1",
"strand": false,
"transcript": "ENST00000908003.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1144,
"aa_ref": "R",
"aa_start": 1056,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4673,
"cdna_start": 3333,
"cds_end": null,
"cds_length": 3435,
"cds_start": 3167,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000970933.1",
"gene_hgnc_id": 6512,
"gene_symbol": "LARS1",
"hgvs_c": "c.3167G>A",
"hgvs_p": "p.Arg1056Lys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640992.1",
"strand": false,
"transcript": "ENST00000970933.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4622,
"cdna_start": 3282,
"cds_end": null,
"cds_length": 3393,
"cds_start": 3125,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "NM_001317964.2",
"gene_hgnc_id": 6512,
"gene_symbol": "LARS1",
"hgvs_c": "c.3125G>A",
"hgvs_p": "p.Arg1042Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001304893.1",
"strand": false,
"transcript": "NM_001317964.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1130,
"aa_ref": "R",
"aa_start": 1042,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7090,
"cdna_start": 3282,
"cds_end": null,
"cds_length": 3393,
"cds_start": 3125,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000674270.1",
"gene_hgnc_id": 6512,
"gene_symbol": "LARS1",
"hgvs_c": "c.3125G>A",
"hgvs_p": "p.Arg1042Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501365.1",
"strand": false,
"transcript": "ENST00000674270.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 1129,
"aa_ref": "R",
"aa_start": 1041,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4590,
"cdna_start": 3259,
"cds_end": null,
"cds_length": 3390,
"cds_start": 3122,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000923243.1",
"gene_hgnc_id": 6512,
"gene_symbol": "LARS1",
"hgvs_c": "c.3122G>A",
"hgvs_p": "p.Arg1041Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593302.1",
"strand": false,
"transcript": "ENST00000923243.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1122,
"aa_ref": "R",
"aa_start": 1034,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4641,
"cdna_start": 3301,
"cds_end": null,
"cds_length": 3369,
"cds_start": 3101,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "NM_001317965.2",
"gene_hgnc_id": 6512,
"gene_symbol": "LARS1",
"hgvs_c": "c.3101G>A",
"hgvs_p": "p.Arg1034Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001304894.1",
"strand": false,
"transcript": "NM_001317965.2",
"transcript_support_level": null
},
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}