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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: 16-28486459-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=28486459&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 28486459,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000086.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.565G>T",
"hgvs_p": "p.Gly189Trp",
"transcript": "NM_001042432.2",
"protein_id": "NP_001035897.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 438,
"cds_start": 565,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000636147.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042432.2"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.565G>T",
"hgvs_p": "p.Gly189Trp",
"transcript": "ENST00000636147.2",
"protein_id": "ENSP00000490105.1",
"transcript_support_level": 1,
"aa_start": 189,
"aa_end": null,
"aa_length": 438,
"cds_start": 565,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001042432.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636147.2"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.565G>T",
"hgvs_p": "p.Gly189Trp",
"transcript": "ENST00000359984.12",
"protein_id": "ENSP00000353073.9",
"transcript_support_level": 1,
"aa_start": 189,
"aa_end": null,
"aa_length": 438,
"cds_start": 565,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359984.12"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.565G>T",
"hgvs_p": "p.Gly189Trp",
"transcript": "ENST00000565316.6",
"protein_id": "ENSP00000456117.1",
"transcript_support_level": 1,
"aa_start": 189,
"aa_end": null,
"aa_length": 421,
"cds_start": 565,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565316.6"
},
{
"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": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.533+119G>T",
"hgvs_p": null,
"transcript": "ENST00000355477.10",
"protein_id": "ENSP00000347660.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 390,
"cds_start": null,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355477.10"
},
{
"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": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.380+997G>T",
"hgvs_p": null,
"transcript": "ENST00000357806.11",
"protein_id": "ENSP00000350457.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 339,
"cds_start": null,
"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": "ENST00000357806.11"
},
{
"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": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.371+119G>T",
"hgvs_p": null,
"transcript": "ENST00000636228.1",
"protein_id": "ENSP00000489627.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 336,
"cds_start": null,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636228.1"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.308+997G>T",
"hgvs_p": null,
"transcript": "ENST00000565778.6",
"protein_id": "ENSP00000458015.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 166,
"cds_start": null,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565778.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "n.*89G>T",
"hgvs_p": null,
"transcript": "ENST00000561505.2",
"protein_id": "ENSP00000457615.2",
"transcript_support_level": 1,
"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": "ENST00000561505.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000261832",
"gene_hgnc_id": null,
"hgvs_c": "n.331G>T",
"hgvs_p": null,
"transcript": "ENST00000568224.4",
"protein_id": "ENSP00000454253.1",
"transcript_support_level": 1,
"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": "ENST00000568224.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "n.*89G>T",
"hgvs_p": null,
"transcript": "ENST00000561505.2",
"protein_id": "ENSP00000457615.2",
"transcript_support_level": 1,
"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": "ENST00000561505.2"
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "n.271+997G>T",
"hgvs_p": null,
"transcript": "ENST00000565047.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "pseudogene",
"feature": "ENST00000565047.1"
},
{
"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": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "n.291+997G>T",
"hgvs_p": null,
"transcript": "ENST00000566057.5",
"protein_id": "ENSP00000456693.1",
"transcript_support_level": 1,
"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": "ENST00000566057.5"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.565G>T",
"hgvs_p": "p.Gly189Trp",
"transcript": "NM_000086.2",
"protein_id": "NP_000077.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 438,
"cds_start": 565,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000086.2"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.565G>T",
"hgvs_p": "p.Gly189Trp",
"transcript": "ENST00000569430.7",
"protein_id": "ENSP00000454229.1",
"transcript_support_level": 5,
"aa_start": 189,
"aa_end": null,
"aa_length": 438,
"cds_start": 565,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569430.7"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.562G>T",
"hgvs_p": "p.Gly188Trp",
"transcript": "ENST00000940182.1",
"protein_id": "ENSP00000610241.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 437,
"cds_start": 562,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940182.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.499G>T",
"hgvs_p": "p.Gly167Trp",
"transcript": "ENST00000892258.1",
"protein_id": "ENSP00000562317.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 416,
"cds_start": 499,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892258.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.493G>T",
"hgvs_p": "p.Gly165Trp",
"transcript": "NM_001286104.2",
"protein_id": "NP_001273033.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 414,
"cds_start": 493,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286104.2"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.493G>T",
"hgvs_p": "p.Gly165Trp",
"transcript": "ENST00000333496.14",
"protein_id": "ENSP00000329171.9",
"transcript_support_level": 5,
"aa_start": 165,
"aa_end": null,
"aa_length": 414,
"cds_start": 493,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333496.14"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.493G>T",
"hgvs_p": "p.Gly165Trp",
"transcript": "ENST00000360019.8",
"protein_id": "ENSP00000353116.3",
"transcript_support_level": 2,
"aa_start": 165,
"aa_end": null,
"aa_length": 414,
"cds_start": 493,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360019.8"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.403G>T",
"hgvs_p": "p.Gly135Trp",
"transcript": "NM_001286110.2",
"protein_id": "NP_001273039.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 384,
"cds_start": 403,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286110.2"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.403G>T",
"hgvs_p": "p.Gly135Trp",
"transcript": "ENST00000357857.14",
"protein_id": "ENSP00000350523.9",
"transcript_support_level": 2,
"aa_start": 135,
"aa_end": null,
"aa_length": 384,
"cds_start": 403,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357857.14"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
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"PP3_Strong",
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"verdict": "Likely_pathogenic",
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{
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],
"clinvar_disease": "Neuronal ceroid lipofuscinosis,Neuronal ceroid lipofuscinosis 3",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 US:3",
"phenotype_combined": "Neuronal ceroid lipofuscinosis 3|Neuronal ceroid lipofuscinosis",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}