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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: 14-81108343-TTCTC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=81108343&ref=TTCTC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 81108343,
"ref": "TTCTC",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000298171.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TSHR",
"gene_hgnc_id": 12373,
"hgvs_c": "c.615-22_615-19delCTCT",
"hgvs_p": null,
"transcript": "NM_000369.5",
"protein_id": "NP_000360.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 764,
"cds_start": -4,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": "ENST00000298171.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TSHR",
"gene_hgnc_id": 12373,
"hgvs_c": "c.615-31_615-28delTCTC",
"hgvs_p": null,
"transcript": "ENST00000298171.7",
"protein_id": "ENSP00000298171.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 764,
"cds_start": -4,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": "NM_000369.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TSHR",
"gene_hgnc_id": 12373,
"hgvs_c": "c.615-31_615-28delTCTC",
"hgvs_p": null,
"transcript": "ENST00000554435.1",
"protein_id": "ENSP00000450549.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 274,
"cds_start": -4,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TSHR",
"gene_hgnc_id": 12373,
"hgvs_c": "c.615-31_615-28delTCTC",
"hgvs_p": null,
"transcript": "ENST00000342443.10",
"protein_id": "ENSP00000340113.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 253,
"cds_start": -4,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TSHR",
"gene_hgnc_id": 12373,
"hgvs_c": "c.615-31_615-28delTCTC",
"hgvs_p": null,
"transcript": "ENST00000554263.5",
"protein_id": "ENSP00000451202.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 231,
"cds_start": -4,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TSHR",
"gene_hgnc_id": 12373,
"hgvs_c": "c.615-31_615-28delTCTC",
"hgvs_p": null,
"transcript": "ENST00000541158.6",
"protein_id": "ENSP00000441235.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 764,
"cds_start": -4,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TSHR",
"gene_hgnc_id": 12373,
"hgvs_c": "c.615-22_615-19delCTCT",
"hgvs_p": null,
"transcript": "NM_001142626.3",
"protein_id": "NP_001136098.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 274,
"cds_start": -4,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TSHR",
"gene_hgnc_id": 12373,
"hgvs_c": "c.615-22_615-19delCTCT",
"hgvs_p": null,
"transcript": "NM_001018036.3",
"protein_id": "NP_001018046.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 253,
"cds_start": -4,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TSHR",
"gene_hgnc_id": 12373,
"hgvs_c": "n.533-31_533-28delTCTC",
"hgvs_p": null,
"transcript": "ENST00000636454.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 1606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284959",
"gene_hgnc_id": 58172,
"hgvs_c": "n.511-8821_511-8818delGAGA",
"hgvs_p": null,
"transcript": "ENST00000646052.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": 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,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
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"gene_symbol": "ENSG00000284959",
"gene_hgnc_id": 58172,
"hgvs_c": "n.496-1209_496-1206delGAGA",
"hgvs_p": null,
"transcript": "ENST00000646928.1",
"protein_id": null,
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},
{
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"consequences": [
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],
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"gene_symbol": "ENSG00000284959",
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},
{
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"consequences": [
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],
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"gene_symbol": "ENSG00000284959",
"gene_hgnc_id": 58172,
"hgvs_c": "n.455-14023_455-14020delGAGA",
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"transcript": "ENST00000654681.1",
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},
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],
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"gene_symbol": "ENSG00000284959",
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"hgvs_c": "n.330-1209_330-1206delGAGA",
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},
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],
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"gene_symbol": "ENSG00000284959",
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"hgvs_c": "n.136-8821_136-8818delGAGA",
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"transcript": "ENST00000788233.1",
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},
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],
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"intron_rank": 2,
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"gene_symbol": "ENSG00000284959",
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"hgvs_c": "n.521-14023_521-14020delGAGA",
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},
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],
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"gene_symbol": "ENSG00000284959",
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"hgvs_c": "n.218-14023_218-14020delGAGA",
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},
{
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"strand": false,
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],
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"intron_rank": 1,
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"gene_symbol": "ENSG00000284959",
"gene_hgnc_id": 58172,
"hgvs_c": "n.119-8821_119-8818delGAGA",
"hgvs_p": null,
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"strand": false,
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],
"exon_rank": null,
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"gene_symbol": "ENSG00000284959",
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"hgvs_c": "n.223-1167_223-1164delGAGA",
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],
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},
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],
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"gene_symbol": "TSHR-AS1",
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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": "TSHR-AS1",
"gene_hgnc_id": 58172,
"hgvs_c": "n.488-8821_488-8818delGAGA",
"hgvs_p": null,
"transcript": "XR_001751022.2",
"protein_id": null,
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},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
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"gene_symbol": "TSHR-AS1",
"gene_hgnc_id": 58172,
"hgvs_c": "n.488-1167_488-1164delGAGA",
"hgvs_p": null,
"transcript": "XR_007064286.1",
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"acmg_by_gene": [
{
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"verdict": "Uncertain_significance",
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{
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},
{
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}
],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}