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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: 1-14960782-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=14960782&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 14960782,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_201628.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAZN",
"gene_hgnc_id": 29173,
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Gly109Ser",
"transcript": "NM_201628.3",
"protein_id": "NP_963922.2",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 775,
"cds_start": 325,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 6049,
"mane_select": "ENST00000376030.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201628.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAZN",
"gene_hgnc_id": 29173,
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Gly109Ser",
"transcript": "ENST00000376030.7",
"protein_id": "ENSP00000365198.2",
"transcript_support_level": 5,
"aa_start": 109,
"aa_end": null,
"aa_length": 775,
"cds_start": 325,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 6049,
"mane_select": "NM_201628.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376030.7"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAZN",
"gene_hgnc_id": 29173,
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Gly109Ser",
"transcript": "ENST00000503743.5",
"protein_id": "ENSP00000426015.1",
"transcript_support_level": 1,
"aa_start": 109,
"aa_end": null,
"aa_length": 421,
"cds_start": 325,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 1475,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503743.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAZN",
"gene_hgnc_id": 29173,
"hgvs_c": "c.307G>A",
"hgvs_p": "p.Gly103Ser",
"transcript": "ENST00000361144.9",
"protein_id": "ENSP00000354727.5",
"transcript_support_level": 1,
"aa_start": 103,
"aa_end": null,
"aa_length": 415,
"cds_start": 307,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 3838,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361144.9"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAZN",
"gene_hgnc_id": 29173,
"hgvs_c": "c.43G>A",
"hgvs_p": "p.Gly15Ser",
"transcript": "ENST00000400797.3",
"protein_id": "ENSP00000383601.3",
"transcript_support_level": 1,
"aa_start": 15,
"aa_end": null,
"aa_length": 327,
"cds_start": 43,
"cds_end": null,
"cds_length": 984,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 1295,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400797.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAZN",
"gene_hgnc_id": 29173,
"hgvs_c": "c.43G>A",
"hgvs_p": "p.Gly15Ser",
"transcript": "ENST00000400798.6",
"protein_id": "ENSP00000383602.2",
"transcript_support_level": 1,
"aa_start": 15,
"aa_end": null,
"aa_length": 327,
"cds_start": 43,
"cds_end": null,
"cds_length": 984,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 3643,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400798.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAZN",
"gene_hgnc_id": 29173,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Gly197Ser",
"transcript": "ENST00000636203.1",
"protein_id": "ENSP00000490958.1",
"transcript_support_level": 5,
"aa_start": 197,
"aa_end": null,
"aa_length": 863,
"cds_start": 589,
"cds_end": null,
"cds_length": 2592,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 6874,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636203.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAZN",
"gene_hgnc_id": 29173,
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Gly109Ser",
"transcript": "NM_001437721.1",
"protein_id": "NP_001424650.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 421,
"cds_start": 325,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 566,
"cdna_end": null,
"cdna_length": 3862,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437721.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAZN",
"gene_hgnc_id": 29173,
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Gly109Ser",
"transcript": "NM_015209.3",
"protein_id": "NP_056024.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 421,
"cds_start": 325,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 3934,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015209.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAZN",
"gene_hgnc_id": 29173,
"hgvs_c": "c.307G>A",
"hgvs_p": "p.Gly103Ser",
"transcript": "NM_001018000.4",
"protein_id": "NP_001018000.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 415,
"cds_start": 307,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 518,
"cdna_end": null,
"cdna_length": 3814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018000.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAZN",
"gene_hgnc_id": 29173,
"hgvs_c": "c.298G>A",
"hgvs_p": "p.Gly100Ser",
"transcript": "NM_001370229.2",
"protein_id": "NP_001357158.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 412,
"cds_start": 298,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 3992,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370229.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAZN",
"gene_hgnc_id": 29173,
"hgvs_c": "c.43G>A",
"hgvs_p": "p.Gly15Ser",
"transcript": "NM_001017999.3",
"protein_id": "NP_001017999.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 327,
"cds_start": 43,
"cds_end": null,
"cds_length": 984,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 3788,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001017999.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAZN",
"gene_hgnc_id": 29173,
"hgvs_c": "c.43G>A",
"hgvs_p": "p.Gly15Ser",
"transcript": "NM_001018001.3",
"protein_id": "NP_001018001.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 327,
"cds_start": 43,
"cds_end": null,
"cds_length": 984,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 3700,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018001.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAZN",
"gene_hgnc_id": 29173,
"hgvs_c": "c.43G>A",
"hgvs_p": "p.Gly15Ser",
"transcript": "NM_001370231.2",
"protein_id": "NP_001357160.2",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 327,
"cds_start": 43,
"cds_end": null,
"cds_length": 984,
"cdna_start": 286,
"cdna_end": null,
"cdna_length": 3582,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370231.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAZN",
"gene_hgnc_id": 29173,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Gly44Ser",
"transcript": "NM_001370230.2",
"protein_id": "NP_001357159.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 304,
"cds_start": 130,
"cds_end": null,
"cds_length": 915,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 3734,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370230.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAZN",
"gene_hgnc_id": 29173,
"hgvs_c": "c.43G>A",
"hgvs_p": "p.Gly15Ser",
"transcript": "ENST00000376028.8",
"protein_id": "ENSP00000365196.4",
"transcript_support_level": 3,
"aa_start": 15,
"aa_end": null,
"aa_length": 165,
"cds_start": 43,
"cds_end": null,
"cds_length": 499,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 800,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376028.8"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAZN",
"gene_hgnc_id": 29173,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Gly207Ser",
"transcript": "XM_011541074.4",
"protein_id": "XP_011539376.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 979,
"cds_start": 619,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 1431,
"cdna_end": null,
"cdna_length": 8771,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541074.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAZN",
"gene_hgnc_id": 29173,
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Gly109Ser",
"transcript": "XM_047415845.1",
"protein_id": "XP_047271801.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 881,
"cds_start": 325,
"cds_end": null,
"cds_length": 2646,
"cdna_start": 566,
"cdna_end": null,
"cdna_length": 7906,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415845.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAZN",
"gene_hgnc_id": 29173,
"hgvs_c": "c.307G>A",
"hgvs_p": "p.Gly103Ser",
"transcript": "XM_011541075.3",
"protein_id": "XP_011539377.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 875,
"cds_start": 307,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 518,
"cdna_end": null,
"cdna_length": 7858,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541075.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAZN",
"gene_hgnc_id": 29173,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Gly207Ser",
"transcript": "XM_005245795.6",
"protein_id": "XP_005245852.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 873,
"cds_start": 619,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 1431,
"cdna_end": null,
"cdna_length": 6842,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245795.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAZN",
"gene_hgnc_id": 29173,
"hgvs_c": "c.298G>A",
"hgvs_p": "p.Gly100Ser",
"transcript": "XM_047415858.1",
"protein_id": "XP_047271814.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 872,
"cds_start": 298,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 8061,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415858.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAZN",
"gene_hgnc_id": 29173,
"hgvs_c": "c.43G>A",
"hgvs_p": "p.Gly15Ser",
"transcript": "XM_011541076.3",
"protein_id": "XP_011539378.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 787,
"cds_start": 43,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 7832,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541076.3"
},
{
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{
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{
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{
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{
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},
{
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"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "KAZN",
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"hgvs_c": "n.619G>A",
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"biotype": "retained_intron",
"feature": "ENST00000491547.1"
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],
"gene_symbol": "KAZN",
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"dbsnp": "rs371500792",
"frequency_reference_population": 0.00004903056,
"hom_count_reference_population": 0,
"allele_count_reference_population": 79,
"gnomad_exomes_af": 0.0000520898,
"gnomad_genomes_af": 0.0000197083,
"gnomad_exomes_ac": 76,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14606139063835144,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.122,
"revel_prediction": "Benign",
"alphamissense_score": 0.0761,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.104,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_201628.3",
"gene_symbol": "KAZN",
"hgnc_id": 29173,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Gly109Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}