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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: 11-119110143-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=119110143&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 119110143,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014807.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD2L",
"gene_hgnc_id": 29000,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Pro132Thr",
"transcript": "NM_001290474.2",
"protein_id": "NP_001277403.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 706,
"cds_start": 394,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000648610.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290474.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD2L",
"gene_hgnc_id": 29000,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Pro132Thr",
"transcript": "ENST00000648610.2",
"protein_id": "ENSP00000497391.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 706,
"cds_start": 394,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001290474.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648610.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD2L",
"gene_hgnc_id": 29000,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Pro132Thr",
"transcript": "ENST00000336702.7",
"protein_id": "ENSP00000338885.3",
"transcript_support_level": 1,
"aa_start": 132,
"aa_end": null,
"aa_length": 707,
"cds_start": 394,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336702.7"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD2L",
"gene_hgnc_id": 29000,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Pro132Thr",
"transcript": "ENST00000861321.1",
"protein_id": "ENSP00000531380.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 719,
"cds_start": 394,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861321.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD2L",
"gene_hgnc_id": 29000,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Pro132Thr",
"transcript": "ENST00000861320.1",
"protein_id": "ENSP00000531379.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 718,
"cds_start": 394,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861320.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD2L",
"gene_hgnc_id": 29000,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Pro132Thr",
"transcript": "NM_014807.5",
"protein_id": "NP_055622.3",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 707,
"cds_start": 394,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014807.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD2L",
"gene_hgnc_id": 29000,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Pro132Thr",
"transcript": "ENST00000945176.1",
"protein_id": "ENSP00000615235.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 707,
"cds_start": 394,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945176.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD2L",
"gene_hgnc_id": 29000,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Pro132Thr",
"transcript": "NM_001382613.1",
"protein_id": "NP_001369542.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 706,
"cds_start": 394,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382613.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD2L",
"gene_hgnc_id": 29000,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Pro132Thr",
"transcript": "ENST00000861314.1",
"protein_id": "ENSP00000531373.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 706,
"cds_start": 394,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861314.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD2L",
"gene_hgnc_id": 29000,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Pro132Thr",
"transcript": "ENST00000938387.1",
"protein_id": "ENSP00000608446.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 706,
"cds_start": 394,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938387.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD2L",
"gene_hgnc_id": 29000,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Pro132Thr",
"transcript": "ENST00000945177.1",
"protein_id": "ENSP00000615236.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 706,
"cds_start": 394,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945177.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD2L",
"gene_hgnc_id": 29000,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Pro132Thr",
"transcript": "ENST00000861316.1",
"protein_id": "ENSP00000531375.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 703,
"cds_start": 394,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861316.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD2L",
"gene_hgnc_id": 29000,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Pro132Thr",
"transcript": "ENST00000861322.1",
"protein_id": "ENSP00000531381.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 670,
"cds_start": 394,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861322.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD2L",
"gene_hgnc_id": 29000,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Pro132Thr",
"transcript": "NM_001382611.1",
"protein_id": "NP_001369540.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 669,
"cds_start": 394,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382611.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD2L",
"gene_hgnc_id": 29000,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Pro132Thr",
"transcript": "ENST00000861315.1",
"protein_id": "ENSP00000531374.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 669,
"cds_start": 394,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861315.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD2L",
"gene_hgnc_id": 29000,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Pro132Thr",
"transcript": "NM_001382612.1",
"protein_id": "NP_001369541.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 644,
"cds_start": 394,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382612.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD2L",
"gene_hgnc_id": 29000,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Pro132Thr",
"transcript": "ENST00000945178.1",
"protein_id": "ENSP00000615237.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 640,
"cds_start": 394,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945178.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD2L",
"gene_hgnc_id": 29000,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Pro132Thr",
"transcript": "ENST00000938388.1",
"protein_id": "ENSP00000608447.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 639,
"cds_start": 394,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938388.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD2L",
"gene_hgnc_id": 29000,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Pro132Thr",
"transcript": "ENST00000945179.1",
"protein_id": "ENSP00000615238.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 606,
"cds_start": 394,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945179.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD2L",
"gene_hgnc_id": 29000,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Pro132Thr",
"transcript": "ENST00000861318.1",
"protein_id": "ENSP00000531377.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 605,
"cds_start": 394,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861318.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD2L",
"gene_hgnc_id": 29000,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Pro132Thr",
"transcript": "XM_047427937.1",
"protein_id": "XP_047283893.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 707,
"cds_start": 394,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427937.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD2L",
"gene_hgnc_id": 29000,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Pro132Thr",
"transcript": "XM_006718948.5",
"protein_id": "XP_006719011.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 670,
"cds_start": 394,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
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}
],
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}