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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: 17-58208155-GAGA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=58208155&ref=GAGA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 58208155,
"ref": "GAGA",
"alt": "G",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000393119.7",
"consequences": [
{
"aa_ref": "FS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.1112_1114delTCT",
"hgvs_p": "p.Phe371del",
"transcript": "NM_017777.4",
"protein_id": "NP_060247.2",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 559,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 2343,
"mane_select": "ENST00000393119.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FS",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.1112_1114delTCT",
"hgvs_p": "p.Phe371del",
"transcript": "ENST00000393119.7",
"protein_id": "ENSP00000376827.2",
"transcript_support_level": 1,
"aa_start": 371,
"aa_end": null,
"aa_length": 559,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 2343,
"mane_select": "NM_017777.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.683_685delTCT",
"hgvs_p": "p.Phe228del",
"transcript": "ENST00000537529.7",
"protein_id": "ENSP00000442096.3",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 416,
"cds_start": 683,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 2083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.1112_1114delTCT",
"hgvs_p": "p.Phe371del",
"transcript": "NM_001321269.2",
"protein_id": "NP_001308198.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 561,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 2260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.1112_1114delTCT",
"hgvs_p": "p.Phe371del",
"transcript": "ENST00000678463.1",
"protein_id": "ENSP00000502984.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 561,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 2260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.983_985delTCT",
"hgvs_p": "p.Phe328del",
"transcript": "ENST00000676787.1",
"protein_id": "ENSP00000503999.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 516,
"cds_start": 983,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1010,
"cdna_end": null,
"cdna_length": 2214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.1112_1114delTCT",
"hgvs_p": "p.Phe371del",
"transcript": "ENST00000585134.2",
"protein_id": "ENSP00000463826.2",
"transcript_support_level": 2,
"aa_start": 371,
"aa_end": null,
"aa_length": 470,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 1626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.1112_1114delTCT",
"hgvs_p": "p.Phe371del",
"transcript": "NM_001330397.2",
"protein_id": "NP_001317326.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 456,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 2126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.1112_1114delTCT",
"hgvs_p": "p.Phe371del",
"transcript": "ENST00000313863.11",
"protein_id": "ENSP00000316631.6",
"transcript_support_level": 5,
"aa_start": 371,
"aa_end": null,
"aa_length": 456,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 2126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.1112_1114delTCT",
"hgvs_p": "p.Phe371del",
"transcript": "NM_001411113.1",
"protein_id": "NP_001398042.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 432,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 1467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.1112_1114delTCT",
"hgvs_p": "p.Phe371del",
"transcript": "ENST00000580127.6",
"protein_id": "ENSP00000462423.2",
"transcript_support_level": 5,
"aa_start": 371,
"aa_end": null,
"aa_length": 432,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 1467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.503_505delTCT",
"hgvs_p": "p.Phe168del",
"transcript": "NM_001321268.2",
"protein_id": "NP_001308197.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 356,
"cds_start": 503,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 2245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.663_665delTCT",
"hgvs_p": "p.Leu222del",
"transcript": "ENST00000577824.5",
"protein_id": "ENSP00000462460.1",
"transcript_support_level": 5,
"aa_start": 221,
"aa_end": null,
"aa_length": 227,
"cds_start": 663,
"cds_end": null,
"cds_length": 684,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 1158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.1121_1123delTCT",
"hgvs_p": "p.Phe374del",
"transcript": "XM_011524957.3",
"protein_id": "XP_011523259.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 564,
"cds_start": 1121,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 1148,
"cdna_end": null,
"cdna_length": 2269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.1121_1123delTCT",
"hgvs_p": "p.Phe374del",
"transcript": "XM_011524958.3",
"protein_id": "XP_011523260.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 562,
"cds_start": 1121,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 1148,
"cdna_end": null,
"cdna_length": 2352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.1121_1123delTCT",
"hgvs_p": "p.Phe374del",
"transcript": "XM_011524960.3",
"protein_id": "XP_011523262.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 435,
"cds_start": 1121,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1148,
"cdna_end": null,
"cdna_length": 1476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.683_685delTCT",
"hgvs_p": "p.Phe228del",
"transcript": "XM_005257485.5",
"protein_id": "XP_005257542.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 418,
"cds_start": 683,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.503_505delTCT",
"hgvs_p": "p.Phe168del",
"transcript": "XM_047436333.1",
"protein_id": "XP_047292289.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 358,
"cds_start": 503,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 1797,
"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": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "n.*519_*521delTCT",
"hgvs_p": null,
"transcript": "ENST00000393120.6",
"protein_id": "ENSP00000376828.2",
"transcript_support_level": 2,
"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": 1926,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "n.550_552delTCT",
"hgvs_p": null,
"transcript": "ENST00000579358.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 567,
"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": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "n.*731_*733delTCT",
"hgvs_p": null,
"transcript": "ENST00000675753.2",
"protein_id": "ENSP00000502156.1",
"transcript_support_level": null,
"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": 2403,
"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": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "n.*49_*51delTCT",
"hgvs_p": null,
"transcript": "ENST00000677111.1",
"protein_id": "ENSP00000504282.1",
"transcript_support_level": null,
"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": 2771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
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"phenotype_combined": "Bardet-Biedl syndrome 13",
"pathogenicity_classification_combined": "Pathogenic",
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}
],
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}