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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: 2-201143977-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=201143977&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 201143977,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000309955.8",
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.607-1401T>A",
"hgvs_p": null,
"transcript": "NM_003879.7",
"protein_id": "NP_003870.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 480,
"cds_start": -4,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14612,
"mane_select": "ENST00000309955.8",
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.607-1401T>A",
"hgvs_p": null,
"transcript": "ENST00000309955.8",
"protein_id": "ENSP00000312455.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 480,
"cds_start": -4,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14612,
"mane_select": "NM_003879.7",
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.607-1401T>A",
"hgvs_p": null,
"transcript": "ENST00000423241.6",
"protein_id": "ENSP00000399420.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 480,
"cds_start": -4,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2128,
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.607-1401T>A",
"hgvs_p": null,
"transcript": "ENST00000457277.5",
"protein_id": "ENSP00000411535.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 462,
"cds_start": -4,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1868,
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.606+3538T>A",
"hgvs_p": null,
"transcript": "ENST00000341582.10",
"protein_id": "ENSP00000345807.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 445,
"cds_start": -4,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2056,
"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": 6,
"intron_rank_end": null,
"gene_symbol": "CFLAR-AS1",
"gene_hgnc_id": 14437,
"hgvs_c": "n.916-3532A>T",
"hgvs_p": null,
"transcript": "ENST00000415011.6",
"protein_id": null,
"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,
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"cdna_length": 1072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "n.724+1215T>A",
"hgvs_p": null,
"transcript": "ENST00000439154.6",
"protein_id": "ENSP00000398551.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "n.255-1401T>A",
"hgvs_p": null,
"transcript": "ENST00000474842.1",
"protein_id": null,
"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": 1091,
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.607-1401T>A",
"hgvs_p": null,
"transcript": "NM_001127183.4",
"protein_id": "NP_001120655.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 480,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": 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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"intron_rank": 5,
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"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.607-1401T>A",
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"transcript": "NM_001308042.3",
"protein_id": "NP_001294971.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 5,
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"gene_symbol": "CFLAR",
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"hgvs_c": "c.607-1401T>A",
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"transcript": "NM_001351590.2",
"protein_id": "NP_001338519.1",
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},
{
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],
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"gene_symbol": "CFLAR",
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},
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],
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"gene_symbol": "CFLAR",
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],
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],
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},
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],
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"gene_symbol": "CFLAR",
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],
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"transcript": "NM_001202519.3",
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],
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"gene_symbol": "CFLAR",
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"transcript": "ENST00000462763.5",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CFLAR-AS1",
"gene_hgnc_id": 14437,
"hgvs_c": "n.61+159A>T",
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},
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