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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: 16-15677798-CAGG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=15677798&ref=CAGG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 15677798,
"ref": "CAGG",
"alt": "C",
"effect": "frameshift_variant,splice_acceptor_variant,splice_region_variant,intron_variant",
"transcript": "ENST00000396354.6",
"consequences": [
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.238_240delGAG",
"hgvs_p": "p.Glu80del",
"transcript": "NM_017668.3",
"protein_id": "NP_060138.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 335,
"cds_start": 238,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 3203,
"mane_select": "ENST00000396354.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.238-2_238delAGG",
"hgvs_p": "p.Glu80fs",
"transcript": "ENST00000396354.6",
"protein_id": "ENSP00000379642.1",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 335,
"cds_start": 238,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3203,
"mane_select": "NM_017668.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.238-2_238delAGG",
"hgvs_p": "p.Glu80fs",
"transcript": "ENST00000396355.5",
"protein_id": "ENSP00000379643.1",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 335,
"cds_start": 238,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.238_240delGAG",
"hgvs_p": "p.Glu80del",
"transcript": "NM_001143979.2",
"protein_id": "NP_001137451.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 335,
"cds_start": 238,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 949,
"cdna_end": null,
"cdna_length": 3821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.334_336delGAG",
"hgvs_p": "p.Glu112del",
"transcript": "XM_006720897.5",
"protein_id": "XP_006720960.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 379,
"cds_start": 334,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 1795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.334_336delGAG",
"hgvs_p": "p.Glu112del",
"transcript": "XM_047434260.1",
"protein_id": "XP_047290216.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 371,
"cds_start": 334,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 1704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.334_336delGAG",
"hgvs_p": "p.Glu112del",
"transcript": "XM_047434261.1",
"protein_id": "XP_047290217.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 351,
"cds_start": 334,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 3570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.238_240delGAG",
"hgvs_p": "p.Glu80del",
"transcript": "XM_005255396.6",
"protein_id": "XP_005255453.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 347,
"cds_start": 238,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 1299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.238_240delGAG",
"hgvs_p": "p.Glu80del",
"transcript": "XM_006720900.5",
"protein_id": "XP_006720963.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 347,
"cds_start": 238,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 316,
"cdna_end": null,
"cdna_length": 1284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.238_240delGAG",
"hgvs_p": "p.Glu80del",
"transcript": "XM_047434262.1",
"protein_id": "XP_047290218.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 347,
"cds_start": 238,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 1272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.238_240delGAG",
"hgvs_p": "p.Glu80del",
"transcript": "XM_017023349.3",
"protein_id": "XP_016878838.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 346,
"cds_start": 238,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 3226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.238_240delGAG",
"hgvs_p": "p.Glu80del",
"transcript": "XM_017023352.3",
"protein_id": "XP_016878841.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 339,
"cds_start": 238,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 1208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.334_336delGAG",
"hgvs_p": "p.Glu112del",
"transcript": "XM_047434264.1",
"protein_id": "XP_047290220.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 333,
"cds_start": 334,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 1665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.238_240delGAG",
"hgvs_p": "p.Glu80del",
"transcript": "XM_017023353.3",
"protein_id": "XP_016878842.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 319,
"cds_start": 238,
"cds_end": null,
"cds_length": 960,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 3358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.238_240delGAG",
"hgvs_p": "p.Glu80del",
"transcript": "XM_017023354.3",
"protein_id": "XP_016878843.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 319,
"cds_start": 238,
"cds_end": null,
"cds_length": 960,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 3074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.238_240delGAG",
"hgvs_p": "p.Glu80del",
"transcript": "XM_017023355.3",
"protein_id": "XP_016878844.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 301,
"cds_start": 238,
"cds_end": null,
"cds_length": 906,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 1169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.334_336delGAG",
"hgvs_p": "p.Glu112del",
"transcript": "XM_047434267.1",
"protein_id": "XP_047290223.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 285,
"cds_start": 334,
"cds_end": null,
"cds_length": 858,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 1649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.238_240delGAG",
"hgvs_p": "p.Glu80del",
"transcript": "XM_047434268.1",
"protein_id": "XP_047290224.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 253,
"cds_start": 238,
"cds_end": null,
"cds_length": 762,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 1151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.-159_-157delGAG",
"hgvs_p": null,
"transcript": "XM_017023357.3",
"protein_id": "XP_016878846.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 215,
"cds_start": -4,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.-159_-157delGAG",
"hgvs_p": null,
"transcript": "XM_017023357.3",
"protein_id": "XP_016878846.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 215,
"cds_start": -4,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.238-2_238delAGG",
"hgvs_p": "p.Glu80fs",
"transcript": "ENST00000577101.6",
"protein_id": "ENSP00000461729.2",
"transcript_support_level": 4,
"aa_start": 80,
"aa_end": null,
"aa_length": 384,
"cds_start": 238,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.238-2_238delAGG",
"hgvs_p": "p.Glu80fs",
"transcript": "ENST00000674995.1",
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}