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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: 2-39764622-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=39764622&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 39764622,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000505747.6",
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.803+1435G>C",
"hgvs_p": null,
"transcript": "NM_025264.5",
"protein_id": "NP_079540.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 503,
"cds_start": -4,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2205,
"mane_select": "ENST00000505747.6",
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.803+1435G>C",
"hgvs_p": null,
"transcript": "ENST00000505747.6",
"protein_id": "ENSP00000423933.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 503,
"cds_start": -4,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2205,
"mane_select": "NM_025264.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "n.803+1435G>C",
"hgvs_p": null,
"transcript": "ENST00000378727.8",
"protein_id": "ENSP00000368001.4",
"transcript_support_level": 1,
"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": 2089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"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": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "n.1643+1435G>C",
"hgvs_p": null,
"transcript": "ENST00000460072.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 3148,
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.803+1435G>C",
"hgvs_p": null,
"transcript": "NM_001321468.1",
"protein_id": "NP_001308397.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 415,
"cds_start": -4,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2322,
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.524+1435G>C",
"hgvs_p": null,
"transcript": "NM_001321469.1",
"protein_id": "NP_001308398.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 410,
"cds_start": -4,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2214,
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.476+1435G>C",
"hgvs_p": null,
"transcript": "NM_001321470.1",
"protein_id": "NP_001308399.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 394,
"cds_start": -4,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2166,
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.803+1435G>C",
"hgvs_p": null,
"transcript": "NM_001321474.1",
"protein_id": "NP_001308403.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": -4,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2109,
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.524+1435G>C",
"hgvs_p": null,
"transcript": "NM_001321475.1",
"protein_id": "NP_001308404.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 322,
"cds_start": -4,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2312,
"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": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.101+1435G>C",
"hgvs_p": null,
"transcript": "NM_001321477.1",
"protein_id": "NP_001308406.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 269,
"cds_start": -4,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
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"cdna_length": 2407,
"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": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.101+1435G>C",
"hgvs_p": null,
"transcript": "NM_001321478.1",
"protein_id": "NP_001308407.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 269,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 4,
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"gene_symbol": "THUMPD2",
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"hgvs_c": "c.101+1435G>C",
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"transcript": "NM_001321479.1",
"protein_id": "NP_001308408.1",
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},
{
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"canonical": false,
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 6,
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"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.101+1435G>C",
"hgvs_p": null,
"transcript": "NM_001321480.1",
"protein_id": "NP_001308409.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.101+1435G>C",
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"transcript": "NM_001321481.1",
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},
{
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],
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"gene_symbol": "THUMPD2",
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"hgvs_c": "n.909+1435G>C",
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"transcript": "ENST00000510781.2",
"protein_id": null,
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"aa_start": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "n.156+1435G>C",
"hgvs_p": null,
"transcript": "ENST00000527689.1",
"protein_id": null,
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},
{
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],
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"gene_symbol": "THUMPD2",
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"hgvs_c": "n.*460+1435G>C",
"hgvs_p": null,
"transcript": "ENST00000530522.1",
"protein_id": "ENSP00000434844.1",
"transcript_support_level": 2,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 5,
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"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "n.840+1435G>C",
"hgvs_p": null,
"transcript": "NR_028102.1",
"protein_id": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "n.1131+1435G>C",
"hgvs_p": null,
"transcript": "NR_135659.1",
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},
{
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],
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"intron_rank": 6,
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"gene_symbol": "THUMPD2",
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},
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],
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"gene_symbol": "THUMPD2",
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"hgvs_c": "n.1121+1435G>C",
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},
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"consequences": [
"intron_variant"
],
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"exon_count": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "n.830+1435G>C",
"hgvs_p": null,
"transcript": "NR_135662.1",
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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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "n.430+1435G>C",
"hgvs_p": null,
"transcript": "NR_135663.1",
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"mane_select": null,
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"biotype": null,
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},
{
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"protein_coding": false,
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{
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{
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Benign",
"transcript": "ENST00000505747.6",
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"effects": [
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}