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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: 5-146145585-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=146145585&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 146145585,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000394434.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "c.1504-876A>T",
"hgvs_p": null,
"transcript": "NM_020117.11",
"protein_id": "NP_064502.9",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1176,
"cds_start": -4,
"cds_end": null,
"cds_length": 3531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4760,
"mane_select": "ENST00000394434.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "c.1504-876A>T",
"hgvs_p": null,
"transcript": "ENST00000394434.7",
"protein_id": "ENSP00000377954.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1176,
"cds_start": -4,
"cds_end": null,
"cds_length": 3531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4760,
"mane_select": "NM_020117.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "n.972A>T",
"hgvs_p": null,
"transcript": "ENST00000504323.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "n.776A>T",
"hgvs_p": null,
"transcript": "ENST00000506231.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "n.688A>T",
"hgvs_p": null,
"transcript": "ENST00000674471.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "c.1504-876A>T",
"hgvs_p": null,
"transcript": "ENST00000674398.1",
"protein_id": "ENSP00000501476.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1175,
"cds_start": -4,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "c.1468-876A>T",
"hgvs_p": null,
"transcript": "ENST00000674290.1",
"protein_id": "ENSP00000501435.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1164,
"cds_start": -4,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "c.1423-876A>T",
"hgvs_p": null,
"transcript": "NM_016460.4",
"protein_id": "NP_057544.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1149,
"cds_start": -4,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "c.1423-876A>T",
"hgvs_p": null,
"transcript": "ENST00000674447.1",
"protein_id": "ENSP00000501376.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1149,
"cds_start": -4,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "c.1366-876A>T",
"hgvs_p": null,
"transcript": "NM_001317964.2",
"protein_id": "NP_001304893.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1130,
"cds_start": -4,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "c.1366-876A>T",
"hgvs_p": null,
"transcript": "ENST00000674270.1",
"protein_id": "ENSP00000501365.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "c.1342-876A>T",
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"transcript": "NM_001317965.2",
"protein_id": "NP_001304894.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 31,
"intron_rank": 14,
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"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "c.1342-876A>T",
"hgvs_p": null,
"transcript": "ENST00000510191.5",
"protein_id": "ENSP00000426005.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 15,
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"gene_symbol": "LARS1",
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"hgvs_c": "c.1342-876A>T",
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"transcript": "ENST00000674174.1",
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},
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],
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"intron_rank": 15,
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"gene_symbol": "LARS1",
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"hgvs_c": "c.1342-876A>T",
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"transcript": "ENST00000674277.1",
"protein_id": "ENSP00000501510.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 30,
"intron_rank": 13,
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"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "c.1123-876A>T",
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"transcript": "ENST00000674158.1",
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},
{
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],
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"gene_symbol": "LARS1",
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"hgvs_c": "c.1048-876A>T",
"hgvs_p": null,
"transcript": "ENST00000674191.1",
"protein_id": "ENSP00000501478.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "n.125-876A>T",
"hgvs_p": null,
"transcript": "ENST00000507095.1",
"protein_id": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
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"gene_symbol": "LARS1",
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"hgvs_c": "n.166-876A>T",
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"transcript": "ENST00000508667.5",
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},
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],
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"gene_symbol": "LARS1",
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},
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"strand": false,
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],
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"gene_symbol": "LARS1",
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"hgvs_c": "n.1574-876A>T",
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},
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "LARS1",
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"hgvs_c": "n.1681-876A>T",
"hgvs_p": null,
"transcript": "ENST00000674218.1",
"protein_id": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 31,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "n.1504-876A>T",
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"transcript": "ENST00000674309.1",
"protein_id": "ENSP00000501400.1",
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},
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{
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
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}
],
"message": null
}