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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: 6-87514303-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=87514303&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 87514303,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001350505.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.*110G>A",
"hgvs_p": null,
"transcript": "NM_020320.5",
"protein_id": "NP_064716.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 578,
"cds_start": null,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369536.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020320.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.*110G>A",
"hgvs_p": null,
"transcript": "ENST00000369536.10",
"protein_id": "ENSP00000358549.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 578,
"cds_start": null,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020320.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369536.10"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1728G>A",
"hgvs_p": "p.Glu576Glu",
"transcript": "NM_001350505.2",
"protein_id": "NP_001337434.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 588,
"cds_start": 1728,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350505.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1728G>A",
"hgvs_p": "p.Glu576Glu",
"transcript": "ENST00000691725.1",
"protein_id": "ENSP00000509453.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 588,
"cds_start": 1728,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691725.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1203G>A",
"hgvs_p": "p.Glu401Glu",
"transcript": "NM_001350506.2",
"protein_id": "NP_001337435.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 413,
"cds_start": 1203,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350506.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1203G>A",
"hgvs_p": "p.Glu401Glu",
"transcript": "ENST00000693431.1",
"protein_id": "ENSP00000509147.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 413,
"cds_start": 1203,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693431.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Glu263Glu",
"transcript": "ENST00000686154.1",
"protein_id": "ENSP00000508436.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 275,
"cds_start": 789,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686154.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Glu263Glu",
"transcript": "ENST00000689206.1",
"protein_id": "ENSP00000510495.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 275,
"cds_start": 789,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689206.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Glu263Glu",
"transcript": "ENST00000690622.1",
"protein_id": "ENSP00000508528.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 275,
"cds_start": 789,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690622.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1203G>A",
"hgvs_p": "p.Glu401Glu",
"transcript": "XM_017011073.2",
"protein_id": "XP_016866562.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 413,
"cds_start": 1203,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011073.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1203G>A",
"hgvs_p": "p.Glu401Glu",
"transcript": "XM_017011074.3",
"protein_id": "XP_016866563.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 413,
"cds_start": 1203,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011074.3"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1203G>A",
"hgvs_p": "p.Glu401Glu",
"transcript": "XM_047419092.1",
"protein_id": "XP_047275048.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 413,
"cds_start": 1203,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419092.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1203G>A",
"hgvs_p": "p.Glu401Glu",
"transcript": "XM_047419093.1",
"protein_id": "XP_047275049.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 413,
"cds_start": 1203,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419093.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1203G>A",
"hgvs_p": "p.Glu401Glu",
"transcript": "XM_047419094.1",
"protein_id": "XP_047275050.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 413,
"cds_start": 1203,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419094.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.*110G>A",
"hgvs_p": null,
"transcript": "NM_001318785.2",
"protein_id": "NP_001305714.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": null,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318785.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.*110G>A",
"hgvs_p": null,
"transcript": "NM_001350507.2",
"protein_id": "NP_001337436.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": null,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350507.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.*110G>A",
"hgvs_p": null,
"transcript": "NM_001350508.2",
"protein_id": "NP_001337437.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": null,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350508.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.*110G>A",
"hgvs_p": null,
"transcript": "NM_001350509.2",
"protein_id": "NP_001337438.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": null,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350509.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.*110G>A",
"hgvs_p": null,
"transcript": "NM_001350510.2",
"protein_id": "NP_001337439.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": null,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350510.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.*110G>A",
"hgvs_p": null,
"transcript": "NM_001350511.2",
"protein_id": "NP_001337440.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": null,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350511.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.*110G>A",
"hgvs_p": null,
"transcript": "ENST00000685408.1",
"protein_id": "ENSP00000509026.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": null,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685408.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.*110G>A",
"hgvs_p": null,
"transcript": "ENST00000689174.1",
"protein_id": "ENSP00000510542.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": null,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689174.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
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"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_001350505.2",
"gene_symbol": "RARS2",
"hgnc_id": 21406,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1728G>A",
"hgvs_p": "p.Glu576Glu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}