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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: 14-73874170-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=73874170&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 73874170,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_152444.4",
"consequences": [
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Pro102Thr",
"transcript": "NM_001146154.2",
"protein_id": "NP_001139626.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 351,
"cds_start": 304,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000555661.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146154.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Pro102Thr",
"transcript": "ENST00000555661.6",
"protein_id": "ENSP00000452280.1",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 351,
"cds_start": 304,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001146154.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555661.6"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Pro102Thr",
"transcript": "ENST00000267568.8",
"protein_id": "ENSP00000267568.4",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 351,
"cds_start": 304,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000267568.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258653",
"gene_hgnc_id": null,
"hgvs_c": "n.304C>A",
"hgvs_p": null,
"transcript": "ENST00000556551.2",
"protein_id": "ENSP00000451484.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000556551.2"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Pro102Thr",
"transcript": "ENST00000859237.1",
"protein_id": "ENSP00000529296.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 359,
"cds_start": 304,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859237.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Pro102Thr",
"transcript": "ENST00000913426.1",
"protein_id": "ENSP00000583485.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 359,
"cds_start": 304,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913426.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Pro102Thr",
"transcript": "ENST00000967632.1",
"protein_id": "ENSP00000637691.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 352,
"cds_start": 304,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967632.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Pro102Thr",
"transcript": "NM_001146155.3",
"protein_id": "NP_001139627.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 351,
"cds_start": 304,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146155.3"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Pro102Thr",
"transcript": "NM_001371325.1",
"protein_id": "NP_001358254.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 351,
"cds_start": 304,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371325.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Pro102Thr",
"transcript": "NM_152444.4",
"protein_id": "NP_689657.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 351,
"cds_start": 304,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152444.4"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Pro102Thr",
"transcript": "ENST00000555228.5",
"protein_id": "ENSP00000450975.1",
"transcript_support_level": 5,
"aa_start": 102,
"aa_end": null,
"aa_length": 351,
"cds_start": 304,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555228.5"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Pro102Thr",
"transcript": "ENST00000859240.1",
"protein_id": "ENSP00000529299.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 351,
"cds_start": 304,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859240.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Pro102Thr",
"transcript": "ENST00000859245.1",
"protein_id": "ENSP00000529304.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 351,
"cds_start": 304,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859245.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Pro102Thr",
"transcript": "ENST00000967635.1",
"protein_id": "ENSP00000637694.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 351,
"cds_start": 304,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967635.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Pro102Thr",
"transcript": "ENST00000967633.1",
"protein_id": "ENSP00000637692.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 339,
"cds_start": 304,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967633.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Pro102Thr",
"transcript": "NM_001371326.1",
"protein_id": "NP_001358255.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 294,
"cds_start": 304,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371326.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Pro102Thr",
"transcript": "ENST00000859236.1",
"protein_id": "ENSP00000529295.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 294,
"cds_start": 304,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859236.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Pro102Thr",
"transcript": "ENST00000859239.1",
"protein_id": "ENSP00000529298.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 294,
"cds_start": 304,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859239.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Pro102Thr",
"transcript": "ENST00000859241.1",
"protein_id": "ENSP00000529300.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 294,
"cds_start": 304,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859241.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Pro102Thr",
"transcript": "ENST00000859243.1",
"protein_id": "ENSP00000529302.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 294,
"cds_start": 304,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859243.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Pro102Thr",
"transcript": "ENST00000967636.1",
"protein_id": "ENSP00000637695.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 294,
"cds_start": 304,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967636.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Pro102Thr",
"transcript": "NM_001371327.1",
"protein_id": "NP_001358256.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 281,
"cds_start": 304,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371327.1"
},
{
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{
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"criteria": [
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],
"verdict": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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"effects": [
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},
{
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],
"verdict": "Uncertain_significance",
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"gene_symbol": "ENSG00000273711",
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"effects": [
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],
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}