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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: 12-53552435-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=53552435&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 53552435,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001366555.2",
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATF7",
"gene_hgnc_id": 792,
"hgvs_c": "c.145+106G>T",
"hgvs_p": null,
"transcript": "NM_006856.3",
"protein_id": "NP_006847.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": null,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000420353.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006856.3"
},
{
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATF7",
"gene_hgnc_id": 792,
"hgvs_c": "c.145+106G>T",
"hgvs_p": null,
"transcript": "ENST00000420353.7",
"protein_id": "ENSP00000399465.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": null,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006856.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420353.7"
},
{
"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": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATF7-NPFF",
"gene_hgnc_id": 55073,
"hgvs_c": "c.145+106G>T",
"hgvs_p": null,
"transcript": "ENST00000591834.1",
"protein_id": "ENSP00000466174.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": null,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591834.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATF7",
"gene_hgnc_id": 792,
"hgvs_c": "c.145+106G>T",
"hgvs_p": null,
"transcript": "ENST00000548118.6",
"protein_id": "ENSP00000456858.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 117,
"cds_start": null,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548118.6"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATF7",
"gene_hgnc_id": 792,
"hgvs_c": "c.145+106G>T",
"hgvs_p": null,
"transcript": "ENST00000591397.1",
"protein_id": "ENSP00000465192.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 117,
"cds_start": null,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591397.1"
},
{
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATF7",
"gene_hgnc_id": 792,
"hgvs_c": "c.145+106G>T",
"hgvs_p": null,
"transcript": "ENST00000923853.1",
"protein_id": "ENSP00000593912.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 496,
"cds_start": null,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923853.1"
},
{
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATF7",
"gene_hgnc_id": 792,
"hgvs_c": "c.145+106G>T",
"hgvs_p": null,
"transcript": "NM_001366555.2",
"protein_id": "NP_001353484.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 494,
"cds_start": null,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366555.2"
},
{
"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": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATF7",
"gene_hgnc_id": 792,
"hgvs_c": "c.145+106G>T",
"hgvs_p": null,
"transcript": "ENST00000548446.6",
"protein_id": "ENSP00000449938.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 494,
"cds_start": null,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548446.6"
},
{
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATF7",
"gene_hgnc_id": 792,
"hgvs_c": "c.145+106G>T",
"hgvs_p": null,
"transcript": "ENST00000853731.1",
"protein_id": "ENSP00000523790.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 494,
"cds_start": null,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853731.1"
},
{
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATF7",
"gene_hgnc_id": 792,
"hgvs_c": "c.145+106G>T",
"hgvs_p": null,
"transcript": "NM_001366556.2",
"protein_id": "NP_001353485.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366556.2"
},
{
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATF7",
"gene_hgnc_id": 792,
"hgvs_c": "c.145+106G>T",
"hgvs_p": null,
"transcript": "NM_001366558.2",
"protein_id": "NP_001353487.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001366558.2"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 3,
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"gene_symbol": "ATF7",
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"hgvs_c": "c.145+106G>T",
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"transcript": "ENST00000456903.8",
"protein_id": "ENSP00000387406.3",
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"aa_start": null,
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"cds_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000456903.8"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ATF7",
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"hgvs_c": "c.145+106G>T",
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"transcript": "ENST00000853732.1",
"protein_id": "ENSP00000523791.1",
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"cds_start": null,
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},
{
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"strand": false,
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],
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"gene_symbol": "ATF7",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATF7-NPFF",
"gene_hgnc_id": 55073,
"hgvs_c": "c.145+106G>T",
"hgvs_p": null,
"transcript": "NM_001366559.1",
"protein_id": "NP_001353488.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001366559.1"
},
{
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "ATF7",
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"hgvs_c": "c.145+106G>T",
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},
{
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],
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"exon_count": 12,
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"gene_symbol": "ATF7",
"gene_hgnc_id": 792,
"hgvs_c": "c.145+106G>T",
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"transcript": "ENST00000923855.1",
"protein_id": "ENSP00000593914.1",
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},
{
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"consequences": [
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],
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"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATF7-NPFF",
"gene_hgnc_id": 55073,
"hgvs_c": "c.145+106G>T",
"hgvs_p": null,
"transcript": "NM_001366560.1",
"protein_id": "NP_001353489.1",
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},
{
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],
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"gene_symbol": "ATF7",
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"hgvs_c": "c.145+106G>T",
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},
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"strand": false,
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],
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"intron_rank": 3,
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},
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],
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"transcript": "ENST00000923854.1",
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"biotype": "protein_coding",
"feature": "ENST00000923854.1"
},
{
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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": 2,
"intron_rank_end": null,
"gene_symbol": "ATF7",
"gene_hgnc_id": 792,
"hgvs_c": "c.56-8987G>T",
"hgvs_p": null,
"transcript": "NM_001366561.2",
"protein_id": "NP_001353490.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001366561.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
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}
],
"message": null
}