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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: 1-32780240-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=32780240&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 11,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "YARS1",
"hgnc_id": 12840,
"hgvs_c": "c.1179C>T",
"hgvs_p": "p.Asp393Asp",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -11,
"transcript": "NM_003680.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7",
"acmg_score": -11,
"allele_count_reference_population": 30,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"chr": "1",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Charcot-Marie-Tooth disease dominant intermediate C,Inborn genetic diseases",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.46000000834465027,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 528,
"aa_ref": "D",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2443,
"cdna_start": 1293,
"cds_end": null,
"cds_length": 1587,
"cds_start": 1179,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_003680.4",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "c.1179C>T",
"hgvs_p": "p.Asp393Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000373477.9",
"protein_coding": true,
"protein_id": "NP_003671.1",
"strand": false,
"transcript": "NM_003680.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 528,
"aa_ref": "D",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2443,
"cdna_start": 1293,
"cds_end": null,
"cds_length": 1587,
"cds_start": 1179,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000373477.9",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "c.1179C>T",
"hgvs_p": "p.Asp393Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003680.4",
"protein_coding": true,
"protein_id": "ENSP00000362576.4",
"strand": false,
"transcript": "ENST00000373477.9",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 557,
"aa_ref": "D",
"aa_start": 422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2536,
"cdna_start": 1389,
"cds_end": null,
"cds_length": 1674,
"cds_start": 1266,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000906066.1",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "c.1266C>T",
"hgvs_p": "p.Asp422Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576125.1",
"strand": false,
"transcript": "ENST00000906066.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 527,
"aa_ref": "D",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2503,
"cdna_start": 1351,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1176,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000918766.1",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "c.1176C>T",
"hgvs_p": "p.Asp392Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588825.1",
"strand": false,
"transcript": "ENST00000918766.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 527,
"aa_ref": "D",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2502,
"cdna_start": 1351,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1176,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000918768.1",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "c.1176C>T",
"hgvs_p": "p.Asp392Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588827.1",
"strand": false,
"transcript": "ENST00000918768.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 524,
"aa_ref": "D",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1927,
"cdna_start": 1231,
"cds_end": null,
"cds_length": 1575,
"cds_start": 1179,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000956435.1",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "c.1179C>T",
"hgvs_p": "p.Asp393Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626494.1",
"strand": false,
"transcript": "ENST00000956435.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 506,
"aa_ref": "D",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2377,
"cdna_start": 1307,
"cds_end": null,
"cds_length": 1521,
"cds_start": 1179,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000906068.1",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "c.1179C>T",
"hgvs_p": "p.Asp393Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576127.1",
"strand": false,
"transcript": "ENST00000906068.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 501,
"aa_ref": "D",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2383,
"cdna_start": 1232,
"cds_end": null,
"cds_length": 1506,
"cds_start": 1098,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000906065.1",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "c.1098C>T",
"hgvs_p": "p.Asp366Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576124.1",
"strand": false,
"transcript": "ENST00000906065.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 497,
"aa_ref": "D",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2413,
"cdna_start": 1262,
"cds_end": null,
"cds_length": 1494,
"cds_start": 1086,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000918767.1",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "c.1086C>T",
"hgvs_p": "p.Asp362Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588826.1",
"strand": false,
"transcript": "ENST00000918767.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 479,
"aa_ref": "D",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2899,
"cdna_start": 1819,
"cds_end": null,
"cds_length": 1440,
"cds_start": 1032,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000675785.2",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "c.1032C>T",
"hgvs_p": "p.Asp344Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502019.1",
"strand": false,
"transcript": "ENST00000675785.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 470,
"aa_ref": "D",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2275,
"cdna_start": 1125,
"cds_end": null,
"cds_length": 1413,
"cds_start": 1005,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000906067.1",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "c.1005C>T",
"hgvs_p": "p.Asp335Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576126.1",
"strand": false,
"transcript": "ENST00000906067.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 454,
"aa_ref": "D",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2246,
"cdna_start": 1094,
"cds_end": null,
"cds_length": 1365,
"cds_start": 957,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000906064.1",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "c.957C>T",
"hgvs_p": "p.Asp319Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576123.1",
"strand": false,
"transcript": "ENST00000906064.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 423,
"aa_ref": "D",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2088,
"cdna_start": 940,
"cds_end": null,
"cds_length": 1272,
"cds_start": 864,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000918770.1",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "c.864C>T",
"hgvs_p": "p.Asp288Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588829.1",
"strand": false,
"transcript": "ENST00000918770.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 396,
"aa_ref": "D",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2053,
"cdna_start": 901,
"cds_end": null,
"cds_length": 1191,
"cds_start": 783,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000918769.1",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "c.783C>T",
"hgvs_p": "p.Asp261Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588828.1",
"strand": false,
"transcript": "ENST00000918769.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 377,
"aa_ref": "D",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1964,
"cdna_start": 822,
"cds_end": null,
"cds_length": 1134,
"cds_start": 726,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906069.1",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "c.726C>T",
"hgvs_p": "p.Asp242Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576128.1",
"strand": false,
"transcript": "ENST00000906069.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 318,
"aa_ref": "D",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2120,
"cdna_start": 970,
"cds_end": null,
"cds_length": 957,
"cds_start": 549,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011542347.3",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "c.549C>T",
"hgvs_p": "p.Asp183Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011540649.1",
"strand": false,
"transcript": "XM_011542347.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2247,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000469100.5",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "n.1095C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000469100.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1044,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000478828.1",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "n.646C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000478828.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2197,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000487404.5",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "n.1489C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000487404.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2178,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000490826.1",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "n.472C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000490826.1",
"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": 2075,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000674629.1",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "n.*727C>T",
"hgvs_p": null,
"intron_rank": null,
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}