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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: 16-28486639-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=28486639&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 28486639,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000636147.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Ala158Thr",
"transcript": "NM_001042432.2",
"protein_id": "NP_001035897.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 438,
"cds_start": 472,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 1685,
"mane_select": "ENST00000636147.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Ala158Thr",
"transcript": "ENST00000636147.2",
"protein_id": "ENSP00000490105.1",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 438,
"cds_start": 472,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 1685,
"mane_select": "NM_001042432.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Ala158Thr",
"transcript": "ENST00000359984.12",
"protein_id": "ENSP00000353073.9",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 438,
"cds_start": 472,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 787,
"cdna_end": null,
"cdna_length": 1876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.472G>A",
"hgvs_p": "p.Ala158Thr",
"transcript": "ENST00000565316.6",
"protein_id": "ENSP00000456117.1",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 421,
"cds_start": 472,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 1318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.472G>A",
"hgvs_p": "p.Ala158Thr",
"transcript": "ENST00000355477.10",
"protein_id": "ENSP00000347660.7",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 390,
"cds_start": 472,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 1173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.310G>A",
"hgvs_p": "p.Ala104Thr",
"transcript": "ENST00000636228.1",
"protein_id": "ENSP00000489627.1",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 336,
"cds_start": 310,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 1224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "n.158G>A",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000261832",
"gene_hgnc_id": null,
"hgvs_c": "n.238G>A",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1721,
"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": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.380+817G>A",
"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": -4,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1469,
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.308+817G>A",
"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": -4,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 688,
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "n.271+817G>A",
"hgvs_p": null,
"transcript": "ENST00000565047.1",
"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": 461,
"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": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "n.291+817G>A",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Ala158Thr",
"transcript": "NM_000086.2",
"protein_id": "NP_000077.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 438,
"cds_start": 472,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 795,
"cdna_end": null,
"cdna_length": 1877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Ala158Thr",
"transcript": "ENST00000569430.7",
"protein_id": "ENSP00000454229.1",
"transcript_support_level": 5,
"aa_start": 158,
"aa_end": null,
"aa_length": 438,
"cds_start": 472,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 2800,
"cdna_end": null,
"cdna_length": 5765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.400G>A",
"hgvs_p": "p.Ala134Thr",
"transcript": "NM_001286104.2",
"protein_id": "NP_001273033.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 414,
"cds_start": 400,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 531,
"cdna_end": null,
"cdna_length": 3541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.400G>A",
"hgvs_p": "p.Ala134Thr",
"transcript": "ENST00000333496.14",
"protein_id": "ENSP00000329171.9",
"transcript_support_level": 5,
"aa_start": 134,
"aa_end": null,
"aa_length": 414,
"cds_start": 400,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 1608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.400G>A",
"hgvs_p": "p.Ala134Thr",
"transcript": "ENST00000360019.8",
"protein_id": "ENSP00000353116.3",
"transcript_support_level": 2,
"aa_start": 134,
"aa_end": null,
"aa_length": 414,
"cds_start": 400,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 759,
"cdna_end": null,
"cdna_length": 1841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.310G>A",
"hgvs_p": "p.Ala104Thr",
"transcript": "NM_001286110.2",
"protein_id": "NP_001273039.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 384,
"cds_start": 310,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 3718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.310G>A",
"hgvs_p": "p.Ala104Thr",
"transcript": "ENST00000357857.14",
"protein_id": "ENSP00000350523.9",
"transcript_support_level": 2,
"aa_start": 104,
"aa_end": null,
"aa_length": 384,
"cds_start": 310,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 1720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.310G>A",
"hgvs_p": "p.Ala104Thr",
"transcript": "ENST00000567963.6",
"protein_id": "ENSP00000455387.2",
"transcript_support_level": 5,
"aa_start": 104,
"aa_end": null,
"aa_length": 384,
"cds_start": 310,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 1452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.472G>A",
"hgvs_p": "p.Ala158Thr",
"transcript": "ENST00000637100.1",
"protein_id": "ENSP00000490394.1",
"transcript_support_level": 5,
"aa_start": 158,
"aa_end": null,
"aa_length": 370,
"cds_start": 472,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 1284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.238G>A",
"hgvs_p": "p.Ala80Thr",
"transcript": "NM_001286109.2",
"protein_id": "NP_001273038.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 360,
"cds_start": 238,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 1783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.172G>A",
"hgvs_p": "p.Ala58Thr",
"transcript": "NM_001286105.2",
"protein_id": "NP_001273034.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 338,
"cds_start": 172,
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{
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],
"clinvar_disease": "Neuronal ceroid lipofuscinosis,Neuronal ceroid lipofuscinosis 3,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "not provided|Neuronal ceroid lipofuscinosis|Neuronal ceroid lipofuscinosis 3",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}