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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: 20-18292988-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=18292988&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 18292988,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000425686.3",
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF133",
"gene_hgnc_id": 12917,
"hgvs_c": "c.-432+4384G>T",
"hgvs_p": null,
"transcript": "NM_001352452.2",
"protein_id": "NP_001339381.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": -4,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2654,
"mane_select": "ENST00000425686.3",
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF133",
"gene_hgnc_id": 12917,
"hgvs_c": "c.-432+4384G>T",
"hgvs_p": null,
"transcript": "ENST00000425686.3",
"protein_id": "ENSP00000406638.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": -4,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2654,
"mane_select": "NM_001352452.2",
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF133",
"gene_hgnc_id": 12917,
"hgvs_c": "c.-432+4384G>T",
"hgvs_p": null,
"transcript": "ENST00000377671.7",
"protein_id": "ENSP00000366899.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 653,
"cds_start": -4,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2701,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000230010",
"gene_hgnc_id": null,
"hgvs_c": "n.194C>A",
"hgvs_p": null,
"transcript": "ENST00000716730.1",
"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": 594,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF133",
"gene_hgnc_id": 12917,
"hgvs_c": "c.-7+4384G>T",
"hgvs_p": null,
"transcript": "NM_001387295.1",
"protein_id": "NP_001374224.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 691,
"cds_start": -4,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2340,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF133",
"gene_hgnc_id": 12917,
"hgvs_c": "c.-7+4384G>T",
"hgvs_p": null,
"transcript": "NM_001387296.1",
"protein_id": "NP_001374225.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 690,
"cds_start": -4,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2337,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF133",
"gene_hgnc_id": 12917,
"hgvs_c": "c.-76+4384G>T",
"hgvs_p": null,
"transcript": "NM_001282996.3",
"protein_id": "NP_001269925.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 671,
"cds_start": -4,
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"cds_length": 2016,
"cdna_start": null,
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"cdna_length": 2349,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF133",
"gene_hgnc_id": 12917,
"hgvs_c": "c.-76+4384G>T",
"hgvs_p": null,
"transcript": "NM_001283002.3",
"protein_id": "NP_001269931.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 657,
"cds_start": -4,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2307,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF133",
"gene_hgnc_id": 12917,
"hgvs_c": "c.-76+4384G>T",
"hgvs_p": null,
"transcript": "ENST00000628216.2",
"protein_id": "ENSP00000487315.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 657,
"cds_start": -4,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2318,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "ZNF133",
"gene_hgnc_id": 12917,
"hgvs_c": "c.-76+4384G>T",
"hgvs_p": null,
"transcript": "NM_001387297.1",
"protein_id": "NP_001374226.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "ZNF133",
"gene_hgnc_id": 12917,
"hgvs_c": "c.-178+4384G>T",
"hgvs_p": null,
"transcript": "NM_001282997.3",
"protein_id": "NP_001269926.2",
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},
{
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],
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},
{
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"consequences": [
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],
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"gene_symbol": "ZNF133",
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},
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],
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"gene_symbol": "ZNF133",
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},
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],
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},
{
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "ZNF133",
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"hgvs_c": "c.-261+4384G>T",
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},
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],
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"gene_symbol": "ZNF133",
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"hgvs_c": "c.-178+2914G>T",
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"transcript": "NM_001352455.2",
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},
{
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],
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"gene_symbol": "ZNF133",
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"hgvs_c": "c.-269+4384G>T",
"hgvs_p": null,
"transcript": "NM_001352463.2",
"protein_id": "NP_001339392.2",
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},
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],
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"gene_symbol": "ZNF133",
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},
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],
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},
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],
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},
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"consequences": [
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],
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"gene_symbol": "ZNF133",
"gene_hgnc_id": 12917,
"hgvs_c": "c.-432+2914G>T",
"hgvs_p": null,
"transcript": "NM_001387300.1",
"protein_id": "NP_001374229.1",
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"feature": null
},
{
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],
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"intron_rank": 2,
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"gene_symbol": "ZNF133",
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"hgvs_c": "c.-256+2914G>T",
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{
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],
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}
],
"message": null
}