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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: 5-123519722-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=123519722&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 123519722,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000696905.1",
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CSNK1G3",
"gene_hgnc_id": 2456,
"hgvs_c": "c.-248+7152G>T",
"hgvs_p": null,
"transcript": "NM_001364140.2",
"protein_id": "NP_001351069.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": -4,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4665,
"mane_select": "ENST00000696905.1",
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CSNK1G3",
"gene_hgnc_id": 2456,
"hgvs_c": "c.-248+7152G>T",
"hgvs_p": null,
"transcript": "ENST00000696905.1",
"protein_id": "ENSP00000512966.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": -4,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4665,
"mane_select": "NM_001364140.2",
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CSNK1G3",
"gene_hgnc_id": 2456,
"hgvs_c": "c.-248+7152G>T",
"hgvs_p": null,
"transcript": "ENST00000345990.9",
"protein_id": "ENSP00000334735.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 455,
"cds_start": -4,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4653,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CSNK1G3",
"gene_hgnc_id": 2456,
"hgvs_c": "c.-248+7152G>T",
"hgvs_p": null,
"transcript": "NM_001044723.3",
"protein_id": "NP_001038188.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 455,
"cds_start": -4,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4662,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CSNK1G3",
"gene_hgnc_id": 2456,
"hgvs_c": "c.-248+7152G>T",
"hgvs_p": null,
"transcript": "NM_001437477.1",
"protein_id": "NP_001424406.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 454,
"cds_start": -4,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4659,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CSNK1G3",
"gene_hgnc_id": 2456,
"hgvs_c": "c.-333+7152G>T",
"hgvs_p": null,
"transcript": "NM_001437479.1",
"protein_id": "NP_001424408.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 453,
"cds_start": -4,
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"cds_length": 1362,
"cdna_start": null,
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"cdna_length": 4741,
"mane_select": null,
"mane_plus": null,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CSNK1G3",
"gene_hgnc_id": 2456,
"hgvs_c": "c.-333+7152G>T",
"hgvs_p": null,
"transcript": "NM_001364141.2",
"protein_id": "NP_001351070.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 448,
"cds_start": -4,
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"cdna_start": null,
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"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CSNK1G3",
"gene_hgnc_id": 2456,
"hgvs_c": "c.-248+7152G>T",
"hgvs_p": null,
"transcript": "NM_004384.5",
"protein_id": "NP_004375.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 447,
"cds_start": -4,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4360,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CSNK1G3",
"gene_hgnc_id": 2456,
"hgvs_c": "c.-248+7152G>T",
"hgvs_p": null,
"transcript": "NM_001437481.1",
"protein_id": "NP_001424410.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 441,
"cds_start": -4,
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"cdna_start": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "CSNK1G3",
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"hgvs_c": "c.-248+7152G>T",
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"transcript": "NM_001437482.1",
"protein_id": "NP_001424411.1",
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},
{
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"protein_coding": true,
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"consequences": [
"intron_variant"
],
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"gene_symbol": "CSNK1G3",
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"hgvs_c": "c.-248+7152G>T",
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"transcript": "NM_001270572.2",
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},
{
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],
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},
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],
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"gene_symbol": "CSNK1G3",
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],
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],
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},
{
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],
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},
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],
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"gene_symbol": "CSNK1G3",
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},
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],
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"gene_symbol": "CSNK1G3",
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"hgvs_c": "c.-51+7152G>T",
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"transcript": "ENST00000511130.6",
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},
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],
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"intron_rank": 1,
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"gene_symbol": "CSNK1G3",
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"hgvs_c": "c.-51+7152G>T",
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}
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}