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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: 1-176167350-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=176167350&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 176167350,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000367669.8",
"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": 20,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.566-3459C>A",
"hgvs_p": null,
"transcript": "NM_022457.7",
"protein_id": "NP_071902.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 731,
"cds_start": -4,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2826,
"mane_select": "ENST00000367669.8",
"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": 20,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.566-3459C>A",
"hgvs_p": null,
"transcript": "ENST00000367669.8",
"protein_id": "ENSP00000356641.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 731,
"cds_start": -4,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2826,
"mane_select": "NM_022457.7",
"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": 19,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.566-3459C>A",
"hgvs_p": null,
"transcript": "ENST00000308769.12",
"protein_id": "ENSP00000310943.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 707,
"cds_start": -4,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2124,
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "n.277+8560C>A",
"hgvs_p": null,
"transcript": "ENST00000367667.5",
"protein_id": "ENSP00000356639.1",
"transcript_support_level": 1,
"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": 2034,
"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": 19,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.566-3459C>A",
"hgvs_p": null,
"transcript": "NM_001001740.4",
"protein_id": "NP_001001740.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 707,
"cds_start": -4,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2754,
"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": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.131-3459C>A",
"hgvs_p": null,
"transcript": "ENST00000367666.5",
"protein_id": "ENSP00000356638.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 566,
"cds_start": -4,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2022,
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.42+8560C>A",
"hgvs_p": null,
"transcript": "NM_001286644.2",
"protein_id": "NP_001273573.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 491,
"cds_start": -4,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
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"cdna_length": 2629,
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.143-3459C>A",
"hgvs_p": null,
"transcript": "ENST00000498306.5",
"protein_id": "ENSP00000433810.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 188,
"cds_start": -4,
"cds_end": null,
"cds_length": 568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 617,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "n.468-3459C>A",
"hgvs_p": null,
"transcript": "ENST00000474194.1",
"protein_id": "ENSP00000433517.1",
"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": 975,
"mane_select": null,
"mane_plus": null,
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "n.*19+1315C>A",
"hgvs_p": null,
"transcript": "ENST00000491600.5",
"protein_id": "ENSP00000437275.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 4,
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"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "n.*243-3459C>A",
"hgvs_p": null,
"transcript": "ENST00000649803.1",
"protein_id": "ENSP00000497397.1",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "COP1",
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"transcript": "XM_017002059.3",
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},
{
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],
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"gene_symbol": "COP1",
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"hgvs_c": "c.566-3459C>A",
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},
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],
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"gene_symbol": "COP1",
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],
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},
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],
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"intron_rank": 3,
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"gene_symbol": "COP1",
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],
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"gene_symbol": "COP1",
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"hgvs_c": "c.566-3459C>A",
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},
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],
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"gene_symbol": "COP1",
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"hgvs_c": "c.566-3459C>A",
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"transcript": "XM_011509881.3",
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},
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],
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"gene_symbol": "COP1",
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},
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"consequences": [
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],
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"gene_symbol": "COP1",
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"hgvs_c": "c.566-3459C>A",
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"transcript": "XM_017002067.3",
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},
{
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],
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"intron_rank": 3,
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"gene_symbol": "COP1",
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"hgvs_c": "c.566-3459C>A",
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"transcript": "XM_047427778.1",
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