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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: 16-28482344-G-GTC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=28482344&ref=G&alt=GTC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 28482344,
"ref": "G",
"alt": "GTC",
"effect": "frameshift_variant",
"transcript": "ENST00000636147.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.944_945insGA",
"hgvs_p": "p.His315fs",
"transcript": "NM_001042432.2",
"protein_id": "NP_001035897.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 438,
"cds_start": 944,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1075,
"cdna_end": null,
"cdna_length": 1685,
"mane_select": "ENST00000636147.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.944_945insGA",
"hgvs_p": "p.His315fs",
"transcript": "ENST00000636147.2",
"protein_id": "ENSP00000490105.1",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 438,
"cds_start": 944,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1075,
"cdna_end": null,
"cdna_length": 1685,
"mane_select": "NM_001042432.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.944_945insGA",
"hgvs_p": "p.His315fs",
"transcript": "ENST00000359984.12",
"protein_id": "ENSP00000353073.9",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 438,
"cds_start": 944,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 1876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.893_894insGA",
"hgvs_p": "p.His298fs",
"transcript": "ENST00000565316.6",
"protein_id": "ENSP00000456117.1",
"transcript_support_level": 1,
"aa_start": 298,
"aa_end": null,
"aa_length": 421,
"cds_start": 893,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 1318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.800_801insGA",
"hgvs_p": "p.His267fs",
"transcript": "ENST00000355477.10",
"protein_id": "ENSP00000347660.7",
"transcript_support_level": 1,
"aa_start": 267,
"aa_end": null,
"aa_length": 390,
"cds_start": 800,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 1173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000261832",
"gene_hgnc_id": null,
"hgvs_c": "c.116_117insGA",
"hgvs_p": "p.His39fs",
"transcript": "ENST00000637378.1",
"protein_id": "ENSP00000490831.1",
"transcript_support_level": 5,
"aa_start": 39,
"aa_end": null,
"aa_length": 369,
"cds_start": 116,
"cds_end": null,
"cds_length": 1112,
"cdna_start": 116,
"cdna_end": null,
"cdna_length": 1112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.647_648insGA",
"hgvs_p": "p.His216fs",
"transcript": "ENST00000357806.11",
"protein_id": "ENSP00000350457.7",
"transcript_support_level": 1,
"aa_start": 216,
"aa_end": null,
"aa_length": 339,
"cds_start": 647,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 1469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.638_639insGA",
"hgvs_p": "p.His213fs",
"transcript": "ENST00000636228.1",
"protein_id": "ENSP00000489627.1",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 336,
"cds_start": 638,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 818,
"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": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "n.*240_*241insGA",
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000261832",
"gene_hgnc_id": null,
"hgvs_c": "n.710_711insGA",
"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": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "n.*240_*241insGA",
"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": "H",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.944_945insGA",
"hgvs_p": "p.His315fs",
"transcript": "NM_000086.2",
"protein_id": "NP_000077.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 438,
"cds_start": 944,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 1877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.944_945insGA",
"hgvs_p": "p.His315fs",
"transcript": "ENST00000569430.7",
"protein_id": "ENSP00000454229.1",
"transcript_support_level": 5,
"aa_start": 315,
"aa_end": null,
"aa_length": 438,
"cds_start": 944,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 3272,
"cdna_end": null,
"cdna_length": 5765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.872_873insGA",
"hgvs_p": "p.His291fs",
"transcript": "NM_001286104.2",
"protein_id": "NP_001273033.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 414,
"cds_start": 872,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1003,
"cdna_end": null,
"cdna_length": 3541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.872_873insGA",
"hgvs_p": "p.His291fs",
"transcript": "ENST00000333496.14",
"protein_id": "ENSP00000329171.9",
"transcript_support_level": 5,
"aa_start": 291,
"aa_end": null,
"aa_length": 414,
"cds_start": 872,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 1608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.872_873insGA",
"hgvs_p": "p.His291fs",
"transcript": "ENST00000360019.8",
"protein_id": "ENSP00000353116.3",
"transcript_support_level": 2,
"aa_start": 291,
"aa_end": null,
"aa_length": 414,
"cds_start": 872,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 1841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.782_783insGA",
"hgvs_p": "p.His261fs",
"transcript": "NM_001286110.2",
"protein_id": "NP_001273039.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 384,
"cds_start": 782,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 3718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.782_783insGA",
"hgvs_p": "p.His261fs",
"transcript": "ENST00000357857.14",
"protein_id": "ENSP00000350523.9",
"transcript_support_level": 2,
"aa_start": 261,
"aa_end": null,
"aa_length": 384,
"cds_start": 782,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 1720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.782_783insGA",
"hgvs_p": "p.His261fs",
"transcript": "ENST00000567963.6",
"protein_id": "ENSP00000455387.2",
"transcript_support_level": 5,
"aa_start": 261,
"aa_end": null,
"aa_length": 384,
"cds_start": 782,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 996,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.893_894insGA",
"hgvs_p": "p.His298fs",
"transcript": "ENST00000637100.1",
"protein_id": "ENSP00000490394.1",
"transcript_support_level": 5,
"aa_start": 298,
"aa_end": null,
"aa_length": 370,
"cds_start": 893,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 1284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.710_711insGA",
"hgvs_p": "p.His237fs",
"transcript": "NM_001286109.2",
"protein_id": "NP_001273038.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 360,
"cds_start": 710,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 1783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.644_645insGA",
"hgvs_p": "p.His215fs",
"transcript": "NM_001286105.2",
"protein_id": "NP_001273034.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 338,
"cds_start": 644,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 3638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.485_486insGA",
"hgvs_p": "p.His162fs",
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}
],
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"computational_prediction_selected": null,
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"splice_score_selected": null,
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"bayesdelnoaf_score": null,
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"phylop100way_score": 6.311,
"phylop100way_prediction": "Uncertain_significance",
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"acmg_classification": "Pathogenic",
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"acmg_by_gene": [
{
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"criteria": [
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"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000636147.2",
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"effects": [
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],
"inheritance_mode": "AR",
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"hgvs_p": "p.His315fs"
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{
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],
"verdict": "Pathogenic",
"transcript": "ENST00000637378.1",
"gene_symbol": "ENSG00000261832",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "c.116_117insGA",
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}
],
"clinvar_disease": "Neuronal ceroid lipofuscinosis,Neuronal ceroid lipofuscinosis 3",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "Neuronal ceroid lipofuscinosis|Neuronal ceroid lipofuscinosis 3",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}