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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: 16-15696858-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=15696858&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 15696858,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000396354.6",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.945G>C",
"hgvs_p": "p.Lys315Asn",
"transcript": "NM_017668.3",
"protein_id": "NP_060138.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 335,
"cds_start": 945,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 3203,
"mane_select": "ENST00000396354.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.945G>C",
"hgvs_p": "p.Lys315Asn",
"transcript": "ENST00000396354.6",
"protein_id": "ENSP00000379642.1",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 335,
"cds_start": 945,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 3203,
"mane_select": "NM_017668.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.945G>C",
"hgvs_p": "p.Lys315Asn",
"transcript": "ENST00000396355.5",
"protein_id": "ENSP00000379643.1",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 335,
"cds_start": 945,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 1771,
"cdna_end": null,
"cdna_length": 3936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.1041G>C",
"hgvs_p": "p.Lys347Asn",
"transcript": "XM_006720897.5",
"protein_id": "XP_006720960.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 379,
"cds_start": 1041,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1534,
"cdna_end": null,
"cdna_length": 1795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.1038G>C",
"hgvs_p": "p.Lys346Asn",
"transcript": "XM_047434258.1",
"protein_id": "XP_047290214.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 378,
"cds_start": 1038,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 1795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.945G>C",
"hgvs_p": "p.Lys315Asn",
"transcript": "XM_005255396.6",
"protein_id": "XP_005255453.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 347,
"cds_start": 945,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 1299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.945G>C",
"hgvs_p": "p.Lys315Asn",
"transcript": "XM_006720900.5",
"protein_id": "XP_006720963.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 347,
"cds_start": 945,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1023,
"cdna_end": null,
"cdna_length": 1284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.945G>C",
"hgvs_p": "p.Lys315Asn",
"transcript": "XM_047434262.1",
"protein_id": "XP_047290218.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 347,
"cds_start": 945,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 1272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.942G>C",
"hgvs_p": "p.Lys314Asn",
"transcript": "XM_017023350.2",
"protein_id": "XP_016878839.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 346,
"cds_start": 942,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 1298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.549G>C",
"hgvs_p": "p.Lys183Asn",
"transcript": "XM_017023357.3",
"protein_id": "XP_016878846.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 215,
"cds_start": 549,
"cds_end": null,
"cds_length": 648,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 1338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.1028G>C",
"hgvs_p": "p.Arg343Thr",
"transcript": "ENST00000577101.6",
"protein_id": "ENSP00000461729.2",
"transcript_support_level": 4,
"aa_start": 343,
"aa_end": null,
"aa_length": 384,
"cds_start": 1028,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 3193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.945G>C",
"hgvs_p": "p.Lys315Asn",
"transcript": "NM_001143979.2",
"protein_id": "NP_001137451.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 335,
"cds_start": 945,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 1656,
"cdna_end": null,
"cdna_length": 3821,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.*4G>C",
"hgvs_p": null,
"transcript": "ENST00000674581.1",
"protein_id": "ENSP00000502100.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 282,
"cds_start": -4,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.507G>C",
"hgvs_p": "p.Lys169Asn",
"transcript": "ENST00000574109.5",
"protein_id": "ENSP00000459875.1",
"transcript_support_level": 3,
"aa_start": 169,
"aa_end": null,
"aa_length": 173,
"cds_start": 507,
"cds_end": null,
"cds_length": 522,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.366G>C",
"hgvs_p": "p.Lys122Asn",
"transcript": "ENST00000576502.5",
"protein_id": "ENSP00000461748.1",
"transcript_support_level": 2,
"aa_start": 122,
"aa_end": null,
"aa_length": 153,
"cds_start": 366,
"cds_end": null,
"cds_length": 462,
"cdna_start": 366,
"cdna_end": null,
"cdna_length": 1131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.324G>C",
"hgvs_p": "p.Lys108Asn",
"transcript": "ENST00000572967.1",
"protein_id": "ENSP00000459918.1",
"transcript_support_level": 3,
"aa_start": 108,
"aa_end": null,
"aa_length": 139,
"cds_start": 324,
"cds_end": null,
"cds_length": 420,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.1038G>C",
"hgvs_p": "p.Lys346Asn",
"transcript": "XM_047434259.1",
"protein_id": "XP_047290215.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 377,
"cds_start": 1038,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 3719,
"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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.*4G>C",
"hgvs_p": null,
"transcript": "XM_047434260.1",
"protein_id": "XP_047290216.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": -4,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.945G>C",
"hgvs_p": "p.Lys315Asn",
"transcript": "XM_017023349.3",
"protein_id": "XP_016878838.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 346,
"cds_start": 945,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 3226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.942G>C",
"hgvs_p": "p.Lys314Asn",
"transcript": "XM_047434263.1",
"protein_id": "XP_047290219.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 345,
"cds_start": 942,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 3223,
"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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.*4G>C",
"hgvs_p": null,
"transcript": "XM_017023352.3",
"protein_id": "XP_016878841.1",
"transcript_support_level": null,
"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": 1208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.945G>C",
"hgvs_p": "p.Lys315Asn",
"transcript": "XM_017023353.3",
"protein_id": "XP_016878842.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 319,
"cds_start": 945,
"cds_end": null,
"cds_length": 960,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 3358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
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],
"verdict": "Uncertain_significance",
"transcript": "ENST00000396354.6",
"gene_symbol": "NDE1",
"hgnc_id": 17619,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.945G>C",
"hgvs_p": "p.Lys315Asn"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}