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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: 1-32810729-TC-AT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=32810729&ref=TC&alt=AT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "YARS1",
"hgnc_id": 12840,
"hgvs_c": "c.241_242delGAinsAT",
"hgvs_p": "p.Asp81Ile",
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_003680.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3,PP5",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Charcot-Marie-Tooth disease dominant intermediate C",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 528,
"aa_ref": "D",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2443,
"cdna_start": 356,
"cds_end": null,
"cds_length": 1587,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003680.4",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "c.241_242delGAinsAT",
"hgvs_p": "p.Asp81Ile",
"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": "I",
"aa_end": null,
"aa_length": 528,
"aa_ref": "D",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2443,
"cdna_start": 356,
"cds_end": null,
"cds_length": 1587,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000373477.9",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "c.241_242delGAinsAT",
"hgvs_p": "p.Asp81Ile",
"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": "I",
"aa_end": null,
"aa_length": 557,
"aa_ref": "D",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2536,
"cdna_start": 365,
"cds_end": null,
"cds_length": 1674,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906066.1",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "c.241_242delGAinsAT",
"hgvs_p": "p.Asp81Ile",
"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": "I",
"aa_end": null,
"aa_length": 527,
"aa_ref": "D",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2503,
"cdna_start": 417,
"cds_end": null,
"cds_length": 1584,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918766.1",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "c.241_242delGAinsAT",
"hgvs_p": "p.Asp81Ile",
"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": "I",
"aa_end": null,
"aa_length": 527,
"aa_ref": "D",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2502,
"cdna_start": 414,
"cds_end": null,
"cds_length": 1584,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918768.1",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "c.238_239delGAinsAT",
"hgvs_p": "p.Asp80Ile",
"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": "I",
"aa_end": null,
"aa_length": 524,
"aa_ref": "D",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1927,
"cdna_start": 294,
"cds_end": null,
"cds_length": 1575,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956435.1",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "c.241_242delGAinsAT",
"hgvs_p": "p.Asp81Ile",
"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": "I",
"aa_end": null,
"aa_length": 506,
"aa_ref": "D",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2377,
"cdna_start": 370,
"cds_end": null,
"cds_length": 1521,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906068.1",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "c.241_242delGAinsAT",
"hgvs_p": "p.Asp81Ile",
"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": "I",
"aa_end": null,
"aa_length": 501,
"aa_ref": "D",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2383,
"cdna_start": 376,
"cds_end": null,
"cds_length": 1506,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906065.1",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "c.241_242delGAinsAT",
"hgvs_p": "p.Asp81Ile",
"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": "I",
"aa_end": null,
"aa_length": 497,
"aa_ref": "D",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2413,
"cdna_start": 418,
"cds_end": null,
"cds_length": 1494,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918767.1",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "c.241_242delGAinsAT",
"hgvs_p": "p.Asp81Ile",
"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": "I",
"aa_end": null,
"aa_length": 479,
"aa_ref": "D",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2899,
"cdna_start": 882,
"cds_end": null,
"cds_length": 1440,
"cds_start": 94,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675785.2",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "c.94_95delGAinsAT",
"hgvs_p": "p.Asp32Ile",
"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": "I",
"aa_end": null,
"aa_length": 470,
"aa_ref": "D",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2275,
"cdna_start": 362,
"cds_end": null,
"cds_length": 1413,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906067.1",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "c.241_242delGAinsAT",
"hgvs_p": "p.Asp81Ile",
"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": "I",
"aa_end": null,
"aa_length": 454,
"aa_ref": "D",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2246,
"cdna_start": 379,
"cds_end": null,
"cds_length": 1365,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906064.1",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "c.241_242delGAinsAT",
"hgvs_p": "p.Asp81Ile",
"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": "I",
"aa_end": null,
"aa_length": 423,
"aa_ref": "D",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2088,
"cdna_start": 318,
"cds_end": null,
"cds_length": 1272,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918770.1",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "c.241_242delGAinsAT",
"hgvs_p": "p.Asp81Ile",
"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": "I",
"aa_end": null,
"aa_length": 396,
"aa_ref": "D",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2053,
"cdna_start": 360,
"cds_end": null,
"cds_length": 1191,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918769.1",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "c.241_242delGAinsAT",
"hgvs_p": "p.Asp81Ile",
"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": null,
"aa_end": null,
"aa_length": 377,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1964,
"cdna_start": null,
"cds_end": null,
"cds_length": 1134,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906069.1",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "c.57+6458_57+6459delGAinsAT",
"hgvs_p": null,
"intron_rank": 1,
"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": null,
"aa_end": null,
"aa_length": 318,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2120,
"cdna_start": null,
"cds_end": null,
"cds_length": 957,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011542347.3",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "c.-250-4119_-250-4118delGAinsAT",
"hgvs_p": null,
"intron_rank": 1,
"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": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2521,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000481895.6",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "n.241_242delGAinsAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502016.1",
"strand": false,
"transcript": "ENST00000481895.6",
"transcript_support_level": 5
},
{
"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": 1018,
"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": "ENST00000616261.2",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "n.241_242delGAinsAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000484192.2",
"strand": false,
"transcript": "ENST00000616261.2",
"transcript_support_level": 5
},
{
"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": 2784,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000674654.1",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "n.241_242delGAinsAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501729.1",
"strand": false,
"transcript": "ENST00000674654.1",
"transcript_support_level": null
},
{
"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": 3263,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000676297.1",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "n.241_242delGAinsAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501596.1",
"strand": false,
"transcript": "ENST00000676297.1",
"transcript_support_level": null
},
{
"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": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000674629.1",
"gene_hgnc_id": 12840,
"gene_symbol": "YARS1",
"hgvs_c": "n.58-4119_58-4118delGAinsAT",
"hgvs_p": null,
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]
}