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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-53562114-ATCATCTTCC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=53562114&ref=ATCATCTTCC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 53562114,
"ref": "ATCATCTTCC",
"alt": "A",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000262854.11",
"consequences": [
{
"aa_ref": "EEDD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.7326_7334delGGAAGATGA",
"hgvs_p": "p.Glu2442_Asp2444del",
"transcript": "NM_031407.7",
"protein_id": "NP_113584.3",
"transcript_support_level": null,
"aa_start": 2442,
"aa_end": null,
"aa_length": 4374,
"cds_start": 7326,
"cds_end": null,
"cds_length": 13125,
"cdna_start": 7727,
"cdna_end": null,
"cdna_length": 14731,
"mane_select": "ENST00000262854.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EEDD",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.7326_7334delGGAAGATGA",
"hgvs_p": "p.Glu2442_Asp2444del",
"transcript": "ENST00000262854.11",
"protein_id": "ENSP00000262854.6",
"transcript_support_level": 1,
"aa_start": 2442,
"aa_end": null,
"aa_length": 4374,
"cds_start": 7326,
"cds_end": null,
"cds_length": 13125,
"cdna_start": 7727,
"cdna_end": null,
"cdna_length": 14731,
"mane_select": "NM_031407.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EEDD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.7326_7334delGGAAGATGA",
"hgvs_p": "p.Glu2442_Asp2444del",
"transcript": "NM_001441057.1",
"protein_id": "NP_001427986.1",
"transcript_support_level": null,
"aa_start": 2442,
"aa_end": null,
"aa_length": 4374,
"cds_start": 7326,
"cds_end": null,
"cds_length": 13125,
"cdna_start": 7624,
"cdna_end": null,
"cdna_length": 14628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EEDD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.7326_7334delGGAAGATGA",
"hgvs_p": "p.Glu2442_Asp2444del",
"transcript": "ENST00000342160.7",
"protein_id": "ENSP00000340648.3",
"transcript_support_level": 5,
"aa_start": 2442,
"aa_end": null,
"aa_length": 4374,
"cds_start": 7326,
"cds_end": null,
"cds_length": 13125,
"cdna_start": 7792,
"cdna_end": null,
"cdna_length": 14796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EEDD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.7323_7331delGGAAGATGA",
"hgvs_p": "p.Glu2441_Asp2443del",
"transcript": "NM_001441051.1",
"protein_id": "NP_001427980.1",
"transcript_support_level": null,
"aa_start": 2441,
"aa_end": null,
"aa_length": 4373,
"cds_start": 7323,
"cds_end": null,
"cds_length": 13122,
"cdna_start": 7724,
"cdna_end": null,
"cdna_length": 14728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EEDD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.7323_7331delGGAAGATGA",
"hgvs_p": "p.Glu2441_Asp2443del",
"transcript": "NM_001441056.1",
"protein_id": "NP_001427985.1",
"transcript_support_level": null,
"aa_start": 2441,
"aa_end": null,
"aa_length": 4373,
"cds_start": 7323,
"cds_end": null,
"cds_length": 13122,
"cdna_start": 7756,
"cdna_end": null,
"cdna_length": 14760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EEDD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.7347_7355delGGAAGATGA",
"hgvs_p": "p.Glu2449_Asp2451del",
"transcript": "NM_001441050.1",
"protein_id": "NP_001427979.1",
"transcript_support_level": null,
"aa_start": 2449,
"aa_end": null,
"aa_length": 4366,
"cds_start": 7347,
"cds_end": null,
"cds_length": 13101,
"cdna_start": 7748,
"cdna_end": null,
"cdna_length": 14707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EEDD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.7347_7355delGGAAGATGA",
"hgvs_p": "p.Glu2449_Asp2451del",
"transcript": "NM_001441055.1",
"protein_id": "NP_001427984.1",
"transcript_support_level": null,
"aa_start": 2449,
"aa_end": null,
"aa_length": 4366,
"cds_start": 7347,
"cds_end": null,
"cds_length": 13101,
"cdna_start": 7780,
"cdna_end": null,
"cdna_length": 14739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EEDD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 81,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.7299_7307delGGAAGATGA",
"hgvs_p": "p.Glu2433_Asp2435del",
"transcript": "ENST00000612484.4",
"protein_id": "ENSP00000479451.1",
"transcript_support_level": 5,
"aa_start": 2433,
"aa_end": null,
"aa_length": 4365,
"cds_start": 7299,
"cds_end": null,
"cds_length": 13098,
"cdna_start": 7307,
"cdna_end": null,
"cdna_length": 14311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EEDD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.7326_7334delGGAAGATGA",
"hgvs_p": "p.Glu2442_Asp2444del",
"transcript": "NM_001441049.1",
"protein_id": "NP_001427978.1",
"transcript_support_level": null,
"aa_start": 2442,
"aa_end": null,
"aa_length": 4359,
"cds_start": 7326,
"cds_end": null,
"cds_length": 13080,
"cdna_start": 7727,
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"cdna_length": 14686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EEDD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.7326_7334delGGAAGATGA",
"hgvs_p": "p.Glu2442_Asp2444del",
"transcript": "NM_001441054.1",
"protein_id": "NP_001427983.1",
"transcript_support_level": null,
"aa_start": 2442,
"aa_end": null,
"aa_length": 4359,
"cds_start": 7326,
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"cds_length": 13080,
"cdna_start": 7759,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "EEDD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.7323_7331delGGAAGATGA",
"hgvs_p": "p.Glu2441_Asp2443del",
"transcript": "NM_001441048.1",
"protein_id": "NP_001427977.1",
"transcript_support_level": null,
"aa_start": 2441,
"aa_end": null,
"aa_length": 4358,
"cds_start": 7323,
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"cds_length": 13077,
"cdna_start": 7724,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.7323_7331delGGAAGATGA",
"hgvs_p": "p.Glu2441_Asp2443del",
"transcript": "NM_001441053.1",
"protein_id": "NP_001427982.1",
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"aa_start": 2441,
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"cds_start": 7323,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.7323_7331delGGAAGATGA",
"hgvs_p": "p.Glu2441_Asp2443del",
"transcript": "NM_001441058.1",
"protein_id": "NP_001427987.1",
"transcript_support_level": null,
"aa_start": 2441,
"aa_end": null,
"aa_length": 4358,
"cds_start": 7323,
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"cdna_start": 7621,
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"cdna_length": 14580,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.7323_7331delGGAAGATGA",
"hgvs_p": "p.Glu2441_Asp2443del",
"transcript": "ENST00000704099.1",
"protein_id": "ENSP00000515693.1",
"transcript_support_level": null,
"aa_start": 2441,
"aa_end": null,
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"cds_start": 7323,
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"cdna_start": 7776,
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"feature": null
},
{
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"aa_alt": "D",
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.7596_7604delGGAAGATGA",
"hgvs_p": "p.Glu2532_Asp2534del",
"transcript": "XM_017029198.3",
"protein_id": "XP_016884687.1",
"transcript_support_level": null,
"aa_start": 2532,
"aa_end": null,
"aa_length": 4464,
"cds_start": 7596,
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"cdna_start": 8029,
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"cdna_length": 15033,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "D",
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"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.7596_7604delGGAAGATGA",
"hgvs_p": "p.Glu2532_Asp2534del",
"transcript": "XM_017029199.2",
"protein_id": "XP_016884688.1",
"transcript_support_level": null,
"aa_start": 2532,
"aa_end": null,
"aa_length": 4464,
"cds_start": 7596,
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"cds_length": 13395,
"cdna_start": 7997,
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"cdna_length": 15001,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
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"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.7596_7604delGGAAGATGA",
"hgvs_p": "p.Glu2532_Asp2534del",
"transcript": "XM_017029202.2",
"protein_id": "XP_016884691.1",
"transcript_support_level": null,
"aa_start": 2532,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.7596_7604delGGAAGATGA",
"hgvs_p": "p.Glu2532_Asp2534del",
"transcript": "XM_017029203.2",
"protein_id": "XP_016884692.1",
"transcript_support_level": null,
"aa_start": 2532,
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"cds_start": 7596,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 54,
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"intron_rank": null,
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"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.7596_7604delGGAAGATGA",
"hgvs_p": "p.Glu2532_Asp2534del",
"transcript": "XM_047441711.1",
"protein_id": "XP_047297667.1",
"transcript_support_level": null,
"aa_start": 2532,
"aa_end": null,
"aa_length": 4464,
"cds_start": 7596,
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"cdna_start": 7923,
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"cdna_length": 14927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EEDD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.7593_7601delGGAAGATGA",
"hgvs_p": "p.Glu2531_Asp2533del",
"transcript": "XM_047441712.1",
"protein_id": "XP_047297668.1",
"transcript_support_level": null,
"aa_start": 2531,
"aa_end": null,
"aa_length": 4463,
"cds_start": 7593,
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"cds_length": 13392,
"cdna_start": 8026,
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"cdna_length": 15030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EEDD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 85,
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}
],
"gene_symbol": "HUWE1",
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"dbsnp": "rs781889045",
"frequency_reference_population": 0.000008296744,
"hom_count_reference_population": 1,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000822066,
"gnomad_genomes_af": 0.00000905059,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 6.779,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "ENST00000262854.11",
"gene_symbol": "HUWE1",
"hgnc_id": 30892,
"effects": [
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],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.7326_7334delGGAAGATGA",
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}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}