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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: 15-65625768-CCTT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=65625768&ref=CCTT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 65625768,
"ref": "CCTT",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000261892.11",
"consequences": [
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A1",
"gene_hgnc_id": 10975,
"hgvs_c": "c.1691_1693delTCT",
"hgvs_p": "p.Phe564del",
"transcript": "NM_004727.3",
"protein_id": "NP_004718.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1691,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 1972,
"cdna_end": null,
"cdna_length": 5762,
"mane_select": "ENST00000261892.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A1",
"gene_hgnc_id": 10975,
"hgvs_c": "c.1691_1693delTCT",
"hgvs_p": "p.Phe564del",
"transcript": "ENST00000261892.11",
"protein_id": "ENSP00000261892.6",
"transcript_support_level": 1,
"aa_start": 564,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1691,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 1972,
"cdna_end": null,
"cdna_length": 5762,
"mane_select": "NM_004727.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A1",
"gene_hgnc_id": 10975,
"hgvs_c": "c.1691_1693delTCT",
"hgvs_p": "p.Phe564del",
"transcript": "ENST00000546330.1",
"protein_id": "ENSP00000439190.1",
"transcript_support_level": 1,
"aa_start": 564,
"aa_end": null,
"aa_length": 1081,
"cds_start": 1691,
"cds_end": null,
"cds_length": 3246,
"cdna_start": 1691,
"cdna_end": null,
"cdna_length": 3246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A1",
"gene_hgnc_id": 10975,
"hgvs_c": "c.1691_1693delTCT",
"hgvs_p": "p.Phe564del",
"transcript": "ENST00000399033.8",
"protein_id": "ENSP00000381991.4",
"transcript_support_level": 1,
"aa_start": 564,
"aa_end": null,
"aa_length": 1069,
"cds_start": 1691,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 1773,
"cdna_end": null,
"cdna_length": 3323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A1",
"gene_hgnc_id": 10975,
"hgvs_c": "c.1691_1693delTCT",
"hgvs_p": "p.Phe564del",
"transcript": "NM_001301032.1",
"protein_id": "NP_001287961.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 1081,
"cds_start": 1691,
"cds_end": null,
"cds_length": 3246,
"cdna_start": 1817,
"cdna_end": null,
"cdna_length": 5553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A1",
"gene_hgnc_id": 10975,
"hgvs_c": "c.1691_1693delTCT",
"hgvs_p": "p.Phe564del",
"transcript": "NM_001301031.1",
"protein_id": "NP_001287960.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 1069,
"cds_start": 1691,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 1817,
"cdna_end": null,
"cdna_length": 5517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A1",
"gene_hgnc_id": 10975,
"hgvs_c": "c.1691_1693delTCT",
"hgvs_p": "p.Phe564del",
"transcript": "ENST00000339868.10",
"protein_id": "ENSP00000341837.7",
"transcript_support_level": 5,
"aa_start": 564,
"aa_end": null,
"aa_length": 1069,
"cds_start": 1691,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 1978,
"cdna_end": null,
"cdna_length": 5678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A1",
"gene_hgnc_id": 10975,
"hgvs_c": "c.1691_1693delTCT",
"hgvs_p": "p.Phe564del",
"transcript": "NM_001301033.2",
"protein_id": "NP_001287962.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 1012,
"cds_start": 1691,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 2370,
"cdna_end": null,
"cdna_length": 4045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A1",
"gene_hgnc_id": 10975,
"hgvs_c": "c.1691_1693delTCT",
"hgvs_p": "p.Phe564del",
"transcript": "ENST00000537259.5",
"protein_id": "ENSP00000439693.1",
"transcript_support_level": 2,
"aa_start": 564,
"aa_end": null,
"aa_length": 1012,
"cds_start": 1691,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 2315,
"cdna_end": null,
"cdna_length": 3983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A1",
"gene_hgnc_id": 10975,
"hgvs_c": "c.1691_1693delTCT",
"hgvs_p": "p.Phe564del",
"transcript": "NM_001411142.1",
"protein_id": "NP_001398071.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 985,
"cds_start": 1691,
"cds_end": null,
"cds_length": 2958,
"cdna_start": 3182,
"cdna_end": null,
"cdna_length": 6630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A1",
"gene_hgnc_id": 10975,
"hgvs_c": "c.1691_1693delTCT",
"hgvs_p": "p.Phe564del",
"transcript": "ENST00000544319.6",
"protein_id": "ENSP00000445163.1",
"transcript_support_level": 5,
"aa_start": 564,
"aa_end": null,
"aa_length": 985,
"cds_start": 1691,
"cds_end": null,
"cds_length": 2958,
"cdna_start": 1901,
"cdna_end": null,
"cdna_length": 3169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A1",
"gene_hgnc_id": 10975,
"hgvs_c": "c.1691_1693delTCT",
"hgvs_p": "p.Phe564del",
"transcript": "XM_011522219.2",
"protein_id": "XP_011520521.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1691,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 2471,
"cdna_end": null,
"cdna_length": 6261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A1",
"gene_hgnc_id": 10975,
"hgvs_c": "c.1691_1693delTCT",
"hgvs_p": "p.Phe564del",
"transcript": "XM_024450103.2",
"protein_id": "XP_024305871.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1691,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 2655,
"cdna_end": null,
"cdna_length": 6445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A1",
"gene_hgnc_id": 10975,
"hgvs_c": "c.1691_1693delTCT",
"hgvs_p": "p.Phe564del",
"transcript": "XM_024450104.2",
"protein_id": "XP_024305872.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1691,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 2470,
"cdna_end": null,
"cdna_length": 6260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A1",
"gene_hgnc_id": 10975,
"hgvs_c": "c.1691_1693delTCT",
"hgvs_p": "p.Phe564del",
"transcript": "XM_024450105.2",
"protein_id": "XP_024305873.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1691,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 2488,
"cdna_end": null,
"cdna_length": 6278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A1",
"gene_hgnc_id": 10975,
"hgvs_c": "c.1691_1693delTCT",
"hgvs_p": "p.Phe564del",
"transcript": "XM_047433325.1",
"protein_id": "XP_047289281.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 1081,
"cds_start": 1691,
"cds_end": null,
"cds_length": 3246,
"cdna_start": 2488,
"cdna_end": null,
"cdna_length": 6224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A1",
"gene_hgnc_id": 10975,
"hgvs_c": "c.1691_1693delTCT",
"hgvs_p": "p.Phe564del",
"transcript": "XM_047433326.1",
"protein_id": "XP_047289282.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 1081,
"cds_start": 1691,
"cds_end": null,
"cds_length": 3246,
"cdna_start": 2046,
"cdna_end": null,
"cdna_length": 5782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A1",
"gene_hgnc_id": 10975,
"hgvs_c": "c.1691_1693delTCT",
"hgvs_p": "p.Phe564del",
"transcript": "XM_011522221.4",
"protein_id": "XP_011520523.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 1069,
"cds_start": 1691,
"cds_end": null,
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"cdna_start": 1952,
"cdna_end": null,
"cdna_length": 5652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A1",
"gene_hgnc_id": 10975,
"hgvs_c": "c.1691_1693delTCT",
"hgvs_p": "p.Phe564del",
"transcript": "XM_047433327.1",
"protein_id": "XP_047289283.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 1051,
"cds_start": 1691,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 1952,
"cdna_end": null,
"cdna_length": 5598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A1",
"gene_hgnc_id": 10975,
"hgvs_c": "c.1691_1693delTCT",
"hgvs_p": "p.Phe564del",
"transcript": "XM_017022724.3",
"protein_id": "XP_016878213.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 1049,
"cds_start": 1691,
"cds_end": null,
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"cdna_start": 1952,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A1",
"gene_hgnc_id": 10975,
"hgvs_c": "c.1691_1693delTCT",
"hgvs_p": "p.Phe564del",
"transcript": "XM_047433328.1",
"protein_id": "XP_047289284.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 1031,
"cds_start": 1691,
"cds_end": null,
"cds_length": 3096,
"cdna_start": 1952,
"cdna_end": null,
"cdna_length": 4382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A1",
"gene_hgnc_id": 10975,
"hgvs_c": "c.1691_1693delTCT",
"hgvs_p": "p.Phe564del",
"transcript": "XM_011522222.4",
"protein_id": "XP_011520524.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 1030,
"cds_start": 1691,
"cds_end": null,
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"phenotype_combined": "Congenital stationary night blindness 1D|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}