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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: 12-56018703-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56018703&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 56018703,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_001351089.2",
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.-162+526T>G",
"hgvs_p": null,
"transcript": "NM_001351089.2",
"protein_id": "NP_001338018.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 585,
"cds_start": -4,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5384,
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.-162+526T>G",
"hgvs_p": null,
"transcript": "ENST00000262032.9",
"protein_id": "ENSP00000262032.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 585,
"cds_start": -4,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5229,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.40+526T>G",
"hgvs_p": null,
"transcript": "NM_001351091.2",
"protein_id": "NP_001338020.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 538,
"cds_start": -4,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5042,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.-159+526T>G",
"hgvs_p": null,
"transcript": "ENST00000552689.1",
"protein_id": "ENSP00000449168.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 9,
"cds_start": -4,
"cds_end": null,
"cds_length": 30,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 420,
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "n.118+526T>G",
"hgvs_p": null,
"transcript": "ENST00000548601.5",
"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": 696,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "n.414+526T>G",
"hgvs_p": null,
"transcript": "ENST00000550860.5",
"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,
"cdna_end": null,
"cdna_length": 543,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000257449",
"gene_hgnc_id": null,
"hgvs_c": "n.342-8432A>C",
"hgvs_p": null,
"transcript": "ENST00000766735.1",
"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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"cdna_length": 520,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000257449",
"gene_hgnc_id": null,
"hgvs_c": "n.186+2860A>C",
"hgvs_p": null,
"transcript": "ENST00000766737.1",
"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": 490,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000257449",
"gene_hgnc_id": null,
"hgvs_c": "n.141+2860A>C",
"hgvs_p": null,
"transcript": "ENST00000766738.1",
"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": 320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000257449",
"gene_hgnc_id": null,
"hgvs_c": "n.231+1053A>C",
"hgvs_p": null,
"transcript": "ENST00000766739.1",
"protein_id": null,
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"aa_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "LOC105369781",
"gene_hgnc_id": null,
"hgvs_c": "n.63+6326A>C",
"hgvs_p": null,
"transcript": "NR_135023.1",
"protein_id": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 3,
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"gene_symbol": "IKZF4",
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"hgvs_c": "c.-162+526T>G",
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"transcript": "XM_017019806.2",
"protein_id": "XP_016875295.1",
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},
{
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],
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"gene_symbol": "IKZF4",
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"hgvs_c": "c.-162+526T>G",
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},
{
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],
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"gene_symbol": "IKZF4",
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},
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],
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},
{
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],
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"gene_symbol": "IKZF4",
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"hgvs_c": "c.21+526T>G",
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],
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"gene_symbol": "IKZF4",
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"transcript": "XM_047429344.1",
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],
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"gene_symbol": "IKZF4",
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"hgvs_c": "c.21+526T>G",
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],
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],
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"gene_symbol": "IKZF4",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "IKZF4",
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"hgvs_c": "c.40+526T>G",
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},
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"splice_prediction_selected": "Benign",
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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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"custom_annotations": null
}
],
"message": null
}