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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: 10-75022093-GGAGGAGGAAGAAGAGGAGGAAGAA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=75022093&ref=GGAGGAGGAAGAAGAGGAGGAAGAA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 75022093,
"ref": "GGAGGAGGAAGAAGAGGAGGAAGAA",
"alt": "G",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000287239.10",
"consequences": [
{
"aa_ref": "EEEEEEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3240_3263delGGAAGAAGAGGAGGAAGAAGAGGA",
"hgvs_p": "p.Glu1081_Glu1088del",
"transcript": "NM_012330.4",
"protein_id": "NP_036462.2",
"transcript_support_level": null,
"aa_start": 1080,
"aa_end": null,
"aa_length": 2073,
"cds_start": 3240,
"cds_end": null,
"cds_length": 6222,
"cdna_start": 3754,
"cdna_end": null,
"cdna_length": 8314,
"mane_select": "ENST00000287239.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EEEEEEEEE",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3240_3263delGGAAGAAGAGGAGGAAGAAGAGGA",
"hgvs_p": "p.Glu1081_Glu1088del",
"transcript": "ENST00000287239.10",
"protein_id": "ENSP00000287239.4",
"transcript_support_level": 1,
"aa_start": 1080,
"aa_end": null,
"aa_length": 2073,
"cds_start": 3240,
"cds_end": null,
"cds_length": 6222,
"cdna_start": 3754,
"cdna_end": null,
"cdna_length": 8314,
"mane_select": "NM_012330.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EEEEEEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2691_2714delGGAAGAAGAGGAGGAAGAAGAGGA",
"hgvs_p": "p.Glu898_Glu905del",
"transcript": "ENST00000372711.2",
"protein_id": "ENSP00000361796.1",
"transcript_support_level": 1,
"aa_start": 897,
"aa_end": null,
"aa_length": 1890,
"cds_start": 2691,
"cds_end": null,
"cds_length": 5673,
"cdna_start": 3076,
"cdna_end": null,
"cdna_length": 7297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EEEEEEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3240_3263delGGAAGAAGAGGAGGAAGAAGAGGA",
"hgvs_p": "p.Glu1081_Glu1088del",
"transcript": "NM_001370136.1",
"protein_id": "NP_001357065.1",
"transcript_support_level": null,
"aa_start": 1080,
"aa_end": null,
"aa_length": 2073,
"cds_start": 3240,
"cds_end": null,
"cds_length": 6222,
"cdna_start": 3764,
"cdna_end": null,
"cdna_length": 8324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EEEEEEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3240_3263delGGAAGAAGAGGAGGAAGAAGAGGA",
"hgvs_p": "p.Glu1081_Glu1088del",
"transcript": "NM_001370137.1",
"protein_id": "NP_001357066.1",
"transcript_support_level": null,
"aa_start": 1080,
"aa_end": null,
"aa_length": 2073,
"cds_start": 3240,
"cds_end": null,
"cds_length": 6222,
"cdna_start": 3785,
"cdna_end": null,
"cdna_length": 8345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EEEEEEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3240_3263delGGAAGAAGAGGAGGAAGAAGAGGA",
"hgvs_p": "p.Glu1081_Glu1088del",
"transcript": "ENST00000648725.1",
"protein_id": "ENSP00000497841.1",
"transcript_support_level": null,
"aa_start": 1080,
"aa_end": null,
"aa_length": 2073,
"cds_start": 3240,
"cds_end": null,
"cds_length": 6222,
"cdna_start": 3989,
"cdna_end": null,
"cdna_length": 8209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EEEEEEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3240_3263delGGAAGAAGAGGAGGAAGAAGAGGA",
"hgvs_p": "p.Glu1081_Glu1088del",
"transcript": "ENST00000649463.1",
"protein_id": "ENSP00000497166.1",
"transcript_support_level": null,
"aa_start": 1080,
"aa_end": null,
"aa_length": 2073,
"cds_start": 3240,
"cds_end": null,
"cds_length": 6222,
"cdna_start": 3751,
"cdna_end": null,
"cdna_length": 7908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EEEEEEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2691_2714delGGAAGAAGAGGAGGAAGAAGAGGA",
"hgvs_p": "p.Glu898_Glu905del",
"transcript": "NM_001256468.2",
"protein_id": "NP_001243397.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 1890,
"cds_start": 2691,
"cds_end": null,
"cds_length": 5673,
"cdna_start": 3205,
"cdna_end": null,
"cdna_length": 7765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EEEEEEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2691_2714delGGAAGAAGAGGAGGAAGAAGAGGA",
"hgvs_p": "p.Glu898_Glu905del",
"transcript": "NM_001370138.1",
"protein_id": "NP_001357067.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 1890,
"cds_start": 2691,
"cds_end": null,
"cds_length": 5673,
"cdna_start": 3215,
"cdna_end": null,
"cdna_length": 7775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EEEEEEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2691_2714delGGAAGAAGAGGAGGAAGAAGAGGA",
"hgvs_p": "p.Glu898_Glu905del",
"transcript": "ENST00000372724.6",
"protein_id": "ENSP00000361809.2",
"transcript_support_level": 5,
"aa_start": 897,
"aa_end": null,
"aa_length": 1890,
"cds_start": 2691,
"cds_end": null,
"cds_length": 5673,
"cdna_start": 3356,
"cdna_end": null,
"cdna_length": 7571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EEEEEEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2364_2387delGGAAGAAGAGGAGGAAGAAGAGGA",
"hgvs_p": "p.Glu789_Glu796del",
"transcript": "NM_001256469.2",
"protein_id": "NP_001243398.1",
"transcript_support_level": null,
"aa_start": 788,
"aa_end": null,
"aa_length": 1781,
"cds_start": 2364,
"cds_end": null,
"cds_length": 5346,
"cdna_start": 2878,
"cdna_end": null,
"cdna_length": 7438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EEEEEEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2364_2387delGGAAGAAGAGGAGGAAGAAGAGGA",
"hgvs_p": "p.Glu789_Glu796del",
"transcript": "NM_001370139.1",
"protein_id": "NP_001357068.1",
"transcript_support_level": null,
"aa_start": 788,
"aa_end": null,
"aa_length": 1781,
"cds_start": 2364,
"cds_end": null,
"cds_length": 5346,
"cdna_start": 2825,
"cdna_end": null,
"cdna_length": 7385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EEEEEEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2364_2387delGGAAGAAGAGGAGGAAGAAGAGGA",
"hgvs_p": "p.Glu789_Glu796del",
"transcript": "NM_001370140.1",
"protein_id": "NP_001357069.1",
"transcript_support_level": null,
"aa_start": 788,
"aa_end": null,
"aa_length": 1781,
"cds_start": 2364,
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"cdna_start": 2888,
"cdna_end": null,
"cdna_length": 7448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EEEEEEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2364_2387delGGAAGAAGAGGAGGAAGAAGAGGA",
"hgvs_p": "p.Glu789_Glu796del",
"transcript": "NM_001370141.1",
"protein_id": "NP_001357070.1",
"transcript_support_level": null,
"aa_start": 788,
"aa_end": null,
"aa_length": 1781,
"cds_start": 2364,
"cds_end": null,
"cds_length": 5346,
"cdna_start": 2818,
"cdna_end": null,
"cdna_length": 7378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EEEEEEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2364_2387delGGAAGAAGAGGAGGAAGAAGAGGA",
"hgvs_p": "p.Glu789_Glu796del",
"transcript": "NM_001370142.1",
"protein_id": "NP_001357071.1",
"transcript_support_level": null,
"aa_start": 788,
"aa_end": null,
"aa_length": 1781,
"cds_start": 2364,
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"cdna_start": 2808,
"cdna_end": null,
"cdna_length": 7368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EEEEEEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2364_2387delGGAAGAAGAGGAGGAAGAAGAGGA",
"hgvs_p": "p.Glu789_Glu796del",
"transcript": "ENST00000372714.6",
"protein_id": "ENSP00000361799.1",
"transcript_support_level": 5,
"aa_start": 788,
"aa_end": null,
"aa_length": 1781,
"cds_start": 2364,
"cds_end": null,
"cds_length": 5346,
"cdna_start": 2846,
"cdna_end": null,
"cdna_length": 5972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EEEEEEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2364_2387delGGAAGAAGAGGAGGAAGAAGAGGA",
"hgvs_p": "p.Glu789_Glu796del",
"transcript": "ENST00000372725.6",
"protein_id": "ENSP00000361810.1",
"transcript_support_level": 5,
"aa_start": 788,
"aa_end": null,
"aa_length": 1781,
"cds_start": 2364,
"cds_end": null,
"cds_length": 5346,
"cdna_start": 2798,
"cdna_end": null,
"cdna_length": 7027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EEEEEEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2364_2387delGGAAGAAGAGGAGGAAGAAGAGGA",
"hgvs_p": "p.Glu789_Glu796del",
"transcript": "ENST00000648892.1",
"protein_id": "ENSP00000497048.1",
"transcript_support_level": null,
"aa_start": 788,
"aa_end": null,
"aa_length": 1781,
"cds_start": 2364,
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"cdna_start": 3065,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "EEEEEEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2364_2387delGGAAGAAGAGGAGGAAGAAGAGGA",
"hgvs_p": "p.Glu789_Glu796del",
"transcript": "ENST00000649006.1",
"protein_id": "ENSP00000498139.1",
"transcript_support_level": null,
"aa_start": 788,
"aa_end": null,
"aa_length": 1781,
"cds_start": 2364,
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"cdna_start": 2674,
"cdna_end": null,
"cdna_length": 6847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EEEEEEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2202_2225delGGAAGAAGAGGAGGAAGAAGAGGA",
"hgvs_p": "p.Glu735_Glu742del",
"transcript": "NM_001370132.1",
"protein_id": "NP_001357061.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 1727,
"cds_start": 2202,
"cds_end": null,
"cds_length": 5184,
"cdna_start": 2716,
"cdna_end": null,
"cdna_length": 7276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EEEEEEEEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2175_2198delGGAAGAAGAGGAGGAAGAAGAGGA",
"hgvs_p": "p.Glu726_Glu733del",
"transcript": "NM_001370143.1",
"protein_id": "NP_001357072.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 1718,
"cds_start": 2175,
"cds_end": null,
"cds_length": 5157,
"cdna_start": 2629,
"cdna_end": null,
"cdna_length": 7189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
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"phylop100way_score": 5.759,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP3",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP3"
],
"verdict": "Likely_benign",
"transcript": "ENST00000287239.10",
"gene_symbol": "KAT6B",
"hgnc_id": 17582,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3240_3263delGGAAGAAGAGGAGGAAGAAGAGGA",
"hgvs_p": "p.Glu1081_Glu1088del"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000413431.1",
"gene_symbol": "ENSG00000234149",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.65+2993_65+3016delTTCTTCCTCCTCTTCTTCCTCCTC",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}