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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: 2-55349333-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=55349333&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 55349333,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001365480.1",
"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": 33,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.882+185A>T",
"hgvs_p": null,
"transcript": "NM_001365480.1",
"protein_id": "NP_001352409.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1871,
"cds_start": -4,
"cds_end": null,
"cds_length": 5616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9751,
"mane_select": "ENST00000436346.7",
"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": 33,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.882+185A>T",
"hgvs_p": null,
"transcript": "ENST00000436346.7",
"protein_id": "ENSP00000410608.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1871,
"cds_start": -4,
"cds_end": null,
"cds_length": 5616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9751,
"mane_select": "NM_001365480.1",
"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": 33,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.882+185A>T",
"hgvs_p": null,
"transcript": "ENST00000336838.10",
"protein_id": "ENSP00000338728.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1870,
"cds_start": -4,
"cds_end": null,
"cds_length": 5613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9505,
"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": 32,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.882+185A>T",
"hgvs_p": null,
"transcript": "ENST00000263630.13",
"protein_id": "ENSP00000263630.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1843,
"cds_start": -4,
"cds_end": null,
"cds_length": 5532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9699,
"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": 34,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.882+185A>T",
"hgvs_p": null,
"transcript": "ENST00000413716.7",
"protein_id": "ENSP00000404431.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1797,
"cds_start": -4,
"cds_end": null,
"cds_length": 5394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9545,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "n.892A>T",
"hgvs_p": null,
"transcript": "ENST00000643205.1",
"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": 1784,
"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": 33,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.882+185A>T",
"hgvs_p": null,
"transcript": "ENST00000642200.1",
"protein_id": "ENSP00000495919.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1871,
"cds_start": -4,
"cds_end": null,
"cds_length": 5616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6958,
"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": 33,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.882+185A>T",
"hgvs_p": null,
"transcript": "NM_001135597.2",
"protein_id": "NP_001129069.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1870,
"cds_start": -4,
"cds_end": null,
"cds_length": 5613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9748,
"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": 32,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.882+185A>T",
"hgvs_p": null,
"transcript": "NM_018084.5",
"protein_id": "NP_060554.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1843,
"cds_start": -4,
"cds_end": null,
"cds_length": 5532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9667,
"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": 32,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.882+185A>T",
"hgvs_p": null,
"transcript": "ENST00000643413.1",
"protein_id": "ENSP00000494811.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1842,
"cds_start": -4,
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"cds_length": 5529,
"cdna_start": null,
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"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": 34,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.882+185A>T",
"hgvs_p": null,
"transcript": "NM_001254943.2",
"protein_id": "NP_001241872.1",
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"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": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 34,
"intron_rank": 9,
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"gene_symbol": "CCDC88A",
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"hgvs_c": "c.882+185A>T",
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"transcript": "ENST00000646796.1",
"protein_id": "ENSP00000493703.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 3,
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"gene_symbol": "CCDC88A",
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"hgvs_c": "c.246+185A>T",
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"transcript": "ENST00000647401.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 9,
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"gene_symbol": "CCDC88A",
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"hgvs_c": "c.882+185A>T",
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"transcript": "ENST00000645477.1",
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},
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],
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"gene_symbol": "CCDC88A",
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"transcript": "ENST00000645072.1",
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},
{
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],
"exon_rank": null,
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"intron_rank": 10,
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"gene_symbol": "CCDC88A",
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"hgvs_c": "c.882+185A>T",
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"transcript": "ENST00000644630.1",
"protein_id": "ENSP00000495652.1",
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},
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],
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"gene_symbol": "CCDC88A",
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"hgvs_c": "c.657+185A>T",
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"transcript": "ENST00000647517.1",
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},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.628-3000A>T",
"hgvs_p": null,
"transcript": "ENST00000644033.1",
"protein_id": "ENSP00000496040.1",
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 8,
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"gene_symbol": "CCDC88A",
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"hgvs_c": "c.741+185A>T",
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"transcript": "ENST00000647341.1",
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},
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],
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"gene_symbol": "CCDC88A",
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"hgvs_c": "n.1093+185A>T",
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},
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],
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"hgvs_c": "n.*67+185A>T",
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},
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 4,
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"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "n.465+185A>T",
"hgvs_p": null,
"transcript": "ENST00000643265.1",
"protein_id": "ENSP00000496310.1",
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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,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "n.*23+185A>T",
"hgvs_p": null,
"transcript": "ENST00000644193.1",
"protein_id": "ENSP00000495208.1",
"transcript_support_level": null,
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"mane_select": null,
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}