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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: X-111744768-A-ACCTCCTCCTCCT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=111744768&ref=A&alt=ACCTCCTCCTCCT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 111744768,
"ref": "A",
"alt": "ACCTCCTCCTCCT",
"effect": "conservative_inframe_insertion",
"transcript": "ENST00000394780.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "PPPPA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2824_2835dupCCTCCTCCTCCT",
"hgvs_p": "p.Pro942_Pro945dup",
"transcript": "NM_001099922.3",
"protein_id": "NP_001093392.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1137,
"cds_start": 2836,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 2885,
"cdna_end": null,
"cdna_length": 4113,
"mane_select": "ENST00000394780.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "PPPPA",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2824_2835dupCCTCCTCCTCCT",
"hgvs_p": "p.Pro942_Pro945dup",
"transcript": "ENST00000394780.8",
"protein_id": "ENSP00000378260.3",
"transcript_support_level": 2,
"aa_start": 946,
"aa_end": null,
"aa_length": 1137,
"cds_start": 2836,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 2885,
"cdna_end": null,
"cdna_length": 4113,
"mane_select": "NM_001099922.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "PPPPA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2590_2601dupCCTCCTCCTCCT",
"hgvs_p": "p.Pro864_Pro867dup",
"transcript": "NM_001257231.2",
"protein_id": "NP_001244160.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 1059,
"cds_start": 2602,
"cds_end": null,
"cds_length": 3180,
"cdna_start": 2951,
"cdna_end": null,
"cdna_length": 4179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "PPPPA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2896_2907dupCCTCCTCCTCCT",
"hgvs_p": "p.Pro966_Pro969dup",
"transcript": "XM_011531028.3",
"protein_id": "XP_011529330.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2908,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 2957,
"cdna_end": null,
"cdna_length": 4185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "PPPPA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2872_2883dupCCTCCTCCTCCT",
"hgvs_p": "p.Pro958_Pro961dup",
"transcript": "XM_017029846.2",
"protein_id": "XP_016885335.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1153,
"cds_start": 2884,
"cds_end": null,
"cds_length": 3462,
"cdna_start": 2933,
"cdna_end": null,
"cdna_length": 4161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "PPPPA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2857_2868dupCCTCCTCCTCCT",
"hgvs_p": "p.Pro953_Pro956dup",
"transcript": "XM_017029847.2",
"protein_id": "XP_016885336.1",
"transcript_support_level": null,
"aa_start": 957,
"aa_end": null,
"aa_length": 1148,
"cds_start": 2869,
"cds_end": null,
"cds_length": 3447,
"cdna_start": 2918,
"cdna_end": null,
"cdna_length": 4146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "PPPPA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2800_2811dupCCTCCTCCTCCT",
"hgvs_p": "p.Pro934_Pro937dup",
"transcript": "XM_047442520.1",
"protein_id": "XP_047298476.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2812,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 2861,
"cdna_end": null,
"cdna_length": 4089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "PPPPA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2785_2796dupCCTCCTCCTCCT",
"hgvs_p": "p.Pro929_Pro932dup",
"transcript": "XM_006724693.4",
"protein_id": "XP_006724756.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 1124,
"cds_start": 2797,
"cds_end": null,
"cds_length": 3375,
"cdna_start": 2846,
"cdna_end": null,
"cdna_length": 4074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "PPPPA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2725_2736dupCCTCCTCCTCCT",
"hgvs_p": "p.Pro909_Pro912dup",
"transcript": "XM_047442521.1",
"protein_id": "XP_047298477.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2737,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 2786,
"cdna_end": null,
"cdna_length": 4014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "PPPPA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2653_2664dupCCTCCTCCTCCT",
"hgvs_p": "p.Pro885_Pro888dup",
"transcript": "XM_047442522.1",
"protein_id": "XP_047298478.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 1080,
"cds_start": 2665,
"cds_end": null,
"cds_length": 3243,
"cdna_start": 2714,
"cdna_end": null,
"cdna_length": 3942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "PPPPA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2584_2595dupCCTCCTCCTCCT",
"hgvs_p": "p.Pro862_Pro865dup",
"transcript": "XM_006724697.4",
"protein_id": "XP_006724760.2",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2596,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 2853,
"cdna_end": null,
"cdna_length": 4081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "PPPPA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2584_2595dupCCTCCTCCTCCT",
"hgvs_p": "p.Pro862_Pro865dup",
"transcript": "XM_006724698.4",
"protein_id": "XP_006724761.2",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2596,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 2978,
"cdna_end": null,
"cdna_length": 4206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "PPPPA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2584_2595dupCCTCCTCCTCCT",
"hgvs_p": "p.Pro862_Pro865dup",
"transcript": "XM_011531031.2",
"protein_id": "XP_011529333.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2596,
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"cdna_start": 3082,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2584_2595dupCCTCCTCCTCCT",
"hgvs_p": "p.Pro862_Pro865dup",
"transcript": "XM_011531032.2",
"protein_id": "XP_011529334.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2596,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 2893,
"cdna_end": null,
"cdna_length": 4121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2584_2595dupCCTCCTCCTCCT",
"hgvs_p": "p.Pro862_Pro865dup",
"transcript": "XM_011531033.4",
"protein_id": "XP_011529335.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
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"cds_start": 2596,
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"cdna_start": 2997,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2512_2523dupCCTCCTCCTCCT",
"hgvs_p": "p.Pro838_Pro841dup",
"transcript": "XM_047442524.1",
"protein_id": "XP_047298480.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 1033,
"cds_start": 2524,
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"cds_length": 3102,
"cdna_start": 2821,
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"cdna_length": 4049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2287_2298dupCCTCCTCCTCCT",
"hgvs_p": "p.Pro763_Pro766dup",
"transcript": "XM_011531034.3",
"protein_id": "XP_011529336.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 958,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2877,
"cdna_start": 2710,
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"cdna_length": 3938,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2092_2103dupCCTCCTCCTCCT",
"hgvs_p": "p.Pro698_Pro701dup",
"transcript": "XM_047442526.1",
"protein_id": "XP_047298482.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 893,
"cds_start": 2104,
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"cdna_start": 2342,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.1927_1938dupCCTCCTCCTCCT",
"hgvs_p": "p.Pro643_Pro646dup",
"transcript": "XM_017029852.2",
"protein_id": "XP_016885341.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
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"cds_start": 1939,
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"cdna_start": 1955,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.1900_1911dupCCTCCTCCTCCT",
"hgvs_p": "p.Pro634_Pro637dup",
"transcript": "XM_047442527.1",
"protein_id": "XP_047298483.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 829,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 1950,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "PPPPA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.1645_1656dupCCTCCTCCTCCT",
"hgvs_p": "p.Pro549_Pro552dup",
"transcript": "XM_047442528.1",
"protein_id": "XP_047298484.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 744,
"cds_start": 1657,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 2087,
"cdna_end": null,
"cdna_length": 3315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "PPPPA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
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}
],
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{
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"verdict": "Likely_benign",
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"effects": [
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}