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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: 6-36746081-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=36746081&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 36746081,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000244751.7",
"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": 21,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.1200+315G>T",
"hgvs_p": null,
"transcript": "NM_020939.2",
"protein_id": "NP_065990.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 593,
"cds_start": -4,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3342,
"mane_select": "ENST00000244751.7",
"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": 21,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.1200+315G>T",
"hgvs_p": null,
"transcript": "ENST00000244751.7",
"protein_id": "ENSP00000244751.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 593,
"cds_start": -4,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3342,
"mane_select": "NM_020939.2",
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.324+315G>T",
"hgvs_p": null,
"transcript": "ENST00000393189.2",
"protein_id": "ENSP00000376885.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 301,
"cds_start": -4,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2542,
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "n.380+315G>T",
"hgvs_p": null,
"transcript": "ENST00000493411.2",
"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": 857,
"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": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.1251+315G>T",
"hgvs_p": null,
"transcript": "NM_001410887.1",
"protein_id": "NP_001397816.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 610,
"cds_start": -4,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3393,
"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": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.1251+315G>T",
"hgvs_p": null,
"transcript": "ENST00000633136.2",
"protein_id": "ENSP00000487872.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 610,
"cds_start": -4,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1876,
"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": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.1251+315G>T",
"hgvs_p": null,
"transcript": "NM_001376889.1",
"protein_id": "NP_001363818.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 553,
"cds_start": -4,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
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"cdna_length": 3211,
"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": 5,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.324+315G>T",
"hgvs_p": null,
"transcript": "NM_001376895.1",
"protein_id": "NP_001363824.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 361,
"cds_start": -4,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1262,
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.150+315G>T",
"hgvs_p": null,
"transcript": "NM_001376892.1",
"protein_id": "NP_001363821.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 303,
"cds_start": -4,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1200,
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.150+315G>T",
"hgvs_p": null,
"transcript": "NM_001376893.1",
"protein_id": "NP_001363822.1",
"transcript_support_level": null,
"aa_start": null,
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"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 5,
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"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.324+315G>T",
"hgvs_p": null,
"transcript": "NM_001314018.2",
"protein_id": "NP_001300947.1",
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},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 12,
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"gene_symbol": "CPNE5",
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"transcript": "NM_001376890.1",
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},
{
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],
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"gene_symbol": "CPNE5",
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"transcript": "NM_001376894.1",
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},
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],
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"gene_symbol": "CPNE5",
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"hgvs_c": "c.324+315G>T",
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"transcript": "NM_001376891.1",
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},
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],
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},
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],
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"gene_symbol": "CPNE5",
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"hgvs_c": "c.150+315G>T",
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},
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],
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"transcript": "NM_001376888.1",
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},
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],
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"gene_symbol": "CPNE5",
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"hgvs_c": "n.483+315G>T",
"hgvs_p": null,
"transcript": "ENST00000459703.5",
"protein_id": null,
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},
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],
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"intron_rank": 4,
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"gene_symbol": "CPNE5",
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"hgvs_c": "n.388+315G>T",
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],
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],
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},
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],
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"gene_symbol": "CPNE5",
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"transcript": "XM_011514770.2",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 17,
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"gene_symbol": "CPNE5",
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"hgvs_c": "c.1137+315G>T",
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},
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}
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}