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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: 14-100334893-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=100334893&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 100334893,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_004184.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS1",
"gene_hgnc_id": 12729,
"hgvs_c": "c.1398G>T",
"hgvs_p": "p.Leu466Leu",
"transcript": "NM_004184.4",
"protein_id": "NP_004175.2",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 471,
"cds_start": 1398,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000392882.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004184.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS1",
"gene_hgnc_id": 12729,
"hgvs_c": "c.1398G>T",
"hgvs_p": "p.Leu466Leu",
"transcript": "ENST00000392882.7",
"protein_id": "ENSP00000376620.2",
"transcript_support_level": 1,
"aa_start": 466,
"aa_end": null,
"aa_length": 471,
"cds_start": 1398,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004184.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392882.7"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS1",
"gene_hgnc_id": 12729,
"hgvs_c": "c.1398G>T",
"hgvs_p": "p.Leu466Leu",
"transcript": "ENST00000355338.6",
"protein_id": "ENSP00000347495.2",
"transcript_support_level": 1,
"aa_start": 466,
"aa_end": null,
"aa_length": 471,
"cds_start": 1398,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355338.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS1",
"gene_hgnc_id": 12729,
"hgvs_c": "c.1398G>T",
"hgvs_p": "p.Leu466Leu",
"transcript": "ENST00000557135.5",
"protein_id": "ENSP00000451460.1",
"transcript_support_level": 1,
"aa_start": 466,
"aa_end": null,
"aa_length": 471,
"cds_start": 1398,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557135.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS1",
"gene_hgnc_id": 12729,
"hgvs_c": "c.1527G>T",
"hgvs_p": "p.Leu509Leu",
"transcript": "ENST00000883301.1",
"protein_id": "ENSP00000553360.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 514,
"cds_start": 1527,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883301.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS1",
"gene_hgnc_id": 12729,
"hgvs_c": "c.1419G>T",
"hgvs_p": "p.Leu473Leu",
"transcript": "ENST00000940841.1",
"protein_id": "ENSP00000610900.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 478,
"cds_start": 1419,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940841.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS1",
"gene_hgnc_id": 12729,
"hgvs_c": "c.1398G>T",
"hgvs_p": "p.Leu466Leu",
"transcript": "NM_173701.2",
"protein_id": "NP_776049.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 471,
"cds_start": 1398,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173701.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS1",
"gene_hgnc_id": 12729,
"hgvs_c": "c.1398G>T",
"hgvs_p": "p.Leu466Leu",
"transcript": "ENST00000883283.1",
"protein_id": "ENSP00000553342.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 471,
"cds_start": 1398,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883283.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS1",
"gene_hgnc_id": 12729,
"hgvs_c": "c.1398G>T",
"hgvs_p": "p.Leu466Leu",
"transcript": "ENST00000883284.1",
"protein_id": "ENSP00000553343.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 471,
"cds_start": 1398,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883284.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS1",
"gene_hgnc_id": 12729,
"hgvs_c": "c.1398G>T",
"hgvs_p": "p.Leu466Leu",
"transcript": "ENST00000883285.1",
"protein_id": "ENSP00000553344.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 471,
"cds_start": 1398,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883285.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS1",
"gene_hgnc_id": 12729,
"hgvs_c": "c.1398G>T",
"hgvs_p": "p.Leu466Leu",
"transcript": "ENST00000883286.1",
"protein_id": "ENSP00000553345.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 471,
"cds_start": 1398,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883286.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS1",
"gene_hgnc_id": 12729,
"hgvs_c": "c.1398G>T",
"hgvs_p": "p.Leu466Leu",
"transcript": "ENST00000883287.1",
"protein_id": "ENSP00000553346.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 471,
"cds_start": 1398,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883287.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS1",
"gene_hgnc_id": 12729,
"hgvs_c": "c.1398G>T",
"hgvs_p": "p.Leu466Leu",
"transcript": "ENST00000883288.1",
"protein_id": "ENSP00000553347.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 471,
"cds_start": 1398,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883288.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS1",
"gene_hgnc_id": 12729,
"hgvs_c": "c.1398G>T",
"hgvs_p": "p.Leu466Leu",
"transcript": "ENST00000883289.1",
"protein_id": "ENSP00000553348.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 471,
"cds_start": 1398,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883289.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS1",
"gene_hgnc_id": 12729,
"hgvs_c": "c.1398G>T",
"hgvs_p": "p.Leu466Leu",
"transcript": "ENST00000883291.1",
"protein_id": "ENSP00000553350.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 471,
"cds_start": 1398,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883291.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS1",
"gene_hgnc_id": 12729,
"hgvs_c": "c.1398G>T",
"hgvs_p": "p.Leu466Leu",
"transcript": "ENST00000883292.1",
"protein_id": "ENSP00000553351.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 471,
"cds_start": 1398,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883292.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS1",
"gene_hgnc_id": 12729,
"hgvs_c": "c.1398G>T",
"hgvs_p": "p.Leu466Leu",
"transcript": "ENST00000883293.1",
"protein_id": "ENSP00000553352.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 471,
"cds_start": 1398,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883293.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS1",
"gene_hgnc_id": 12729,
"hgvs_c": "c.1398G>T",
"hgvs_p": "p.Leu466Leu",
"transcript": "ENST00000883294.1",
"protein_id": "ENSP00000553353.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 471,
"cds_start": 1398,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883294.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS1",
"gene_hgnc_id": 12729,
"hgvs_c": "c.1398G>T",
"hgvs_p": "p.Leu466Leu",
"transcript": "ENST00000883295.1",
"protein_id": "ENSP00000553354.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 471,
"cds_start": 1398,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883295.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS1",
"gene_hgnc_id": 12729,
"hgvs_c": "c.1398G>T",
"hgvs_p": "p.Leu466Leu",
"transcript": "ENST00000883296.1",
"protein_id": "ENSP00000553355.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 471,
"cds_start": 1398,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883296.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS1",
"gene_hgnc_id": 12729,
"hgvs_c": "c.1398G>T",
"hgvs_p": "p.Leu466Leu",
"transcript": "ENST00000883297.1",
"protein_id": "ENSP00000553356.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 471,
"cds_start": 1398,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883297.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS1",
"gene_hgnc_id": 12729,
"hgvs_c": "c.1398G>T",
"hgvs_p": "p.Leu466Leu",
"transcript": "ENST00000883298.1",
"protein_id": "ENSP00000553357.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 471,
"cds_start": 1398,
"cds_end": null,
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"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_004184.4",
"gene_symbol": "WARS1",
"hgnc_id": 12729,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1398G>T",
"hgvs_p": "p.Leu466Leu"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000557226.1",
"gene_symbol": "WARS1-AS1",
"hgnc_id": 58289,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.114+990C>A",
"hgvs_p": null
}
],
"clinvar_disease": "WARS1-related disorder,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "WARS1-related disorder|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}