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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: 20-21161882-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=21161882&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 21161882,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_018474.6",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.417C>T",
"hgvs_p": "p.His139His",
"transcript": "NM_018474.6",
"protein_id": "NP_060944.3",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 673,
"cds_start": 417,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000619189.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018474.6"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.417C>T",
"hgvs_p": "p.His139His",
"transcript": "ENST00000619189.5",
"protein_id": "ENSP00000479542.1",
"transcript_support_level": 1,
"aa_start": 139,
"aa_end": null,
"aa_length": 673,
"cds_start": 417,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018474.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619189.5"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.108C>T",
"hgvs_p": "p.His36His",
"transcript": "ENST00000620891.4",
"protein_id": "ENSP00000478019.1",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 570,
"cds_start": 108,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620891.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "KIZ-AS1",
"gene_hgnc_id": 51231,
"hgvs_c": "n.5143+914G>A",
"hgvs_p": null,
"transcript": "ENST00000616177.4",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000616177.4"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.417C>T",
"hgvs_p": "p.His139His",
"transcript": "ENST00000962859.1",
"protein_id": "ENSP00000632918.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 670,
"cds_start": 417,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962859.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.417C>T",
"hgvs_p": "p.His139His",
"transcript": "NM_001352434.2",
"protein_id": "NP_001339363.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 655,
"cds_start": 417,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352434.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.327C>T",
"hgvs_p": "p.His109His",
"transcript": "ENST00000920799.1",
"protein_id": "ENSP00000590858.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 643,
"cds_start": 327,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920799.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.417C>T",
"hgvs_p": "p.His139His",
"transcript": "ENST00000920800.1",
"protein_id": "ENSP00000590859.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 626,
"cds_start": 417,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920800.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.270C>T",
"hgvs_p": "p.His90His",
"transcript": "NM_001276389.2",
"protein_id": "NP_001263318.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 624,
"cds_start": 270,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276389.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.270C>T",
"hgvs_p": "p.His90His",
"transcript": "ENST00000619574.4",
"protein_id": "ENSP00000484706.1",
"transcript_support_level": 2,
"aa_start": 90,
"aa_end": null,
"aa_length": 624,
"cds_start": 270,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619574.4"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.His89His",
"transcript": "ENST00000611685.4",
"protein_id": "ENSP00000483644.2",
"transcript_support_level": 2,
"aa_start": 89,
"aa_end": null,
"aa_length": 623,
"cds_start": 267,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611685.4"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.417C>T",
"hgvs_p": "p.His139His",
"transcript": "ENST00000962858.1",
"protein_id": "ENSP00000632917.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 613,
"cds_start": 417,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962858.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.108C>T",
"hgvs_p": "p.His36His",
"transcript": "NM_001163022.3",
"protein_id": "NP_001156494.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 570,
"cds_start": 108,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163022.3"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.75C>T",
"hgvs_p": "p.His25His",
"transcript": "NM_001352436.2",
"protein_id": "NP_001339365.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 559,
"cds_start": 75,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352436.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.108C>T",
"hgvs_p": "p.His36His",
"transcript": "NM_001352435.2",
"protein_id": "NP_001339364.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 552,
"cds_start": 108,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352435.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.18C>T",
"hgvs_p": "p.His6His",
"transcript": "NM_001163023.3",
"protein_id": "NP_001156495.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 540,
"cds_start": 18,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163023.3"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.18C>T",
"hgvs_p": "p.His6His",
"transcript": "ENST00000616848.4",
"protein_id": "ENSP00000480612.1",
"transcript_support_level": 2,
"aa_start": 6,
"aa_end": null,
"aa_length": 540,
"cds_start": 18,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616848.4"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.78C>T",
"hgvs_p": "p.His26His",
"transcript": "ENST00000619179.4",
"protein_id": "ENSP00000477873.1",
"transcript_support_level": 5,
"aa_start": 26,
"aa_end": null,
"aa_length": 538,
"cds_start": 78,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619179.4"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.81C>T",
"hgvs_p": "p.His27His",
"transcript": "ENST00000616679.4",
"protein_id": "ENSP00000483065.1",
"transcript_support_level": 5,
"aa_start": 27,
"aa_end": null,
"aa_length": 521,
"cds_start": 81,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616679.4"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.417C>T",
"hgvs_p": "p.His139His",
"transcript": "XM_011529296.4",
"protein_id": "XP_011527598.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 683,
"cds_start": 417,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529296.4"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.417C>T",
"hgvs_p": "p.His139His",
"transcript": "XM_011529297.4",
"protein_id": "XP_011527599.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 665,
"cds_start": 417,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529297.4"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.108C>T",
"hgvs_p": "p.His36His",
"transcript": "XM_011529299.4",
"protein_id": "XP_011527601.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 580,
"cds_start": 108,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529299.4"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
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{
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{
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{
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{
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"feature": "XR_001754334.3"
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{
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"strand": true,
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],
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{
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"feature": "XR_937105.4"
},
{
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"intron_variant"
],
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"gene_symbol": "ENSG00000228604",
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{
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"upstream_gene_variant"
],
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"gene_symbol": "KIZ",
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],
"gene_symbol": "KIZ",
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7200000286102295,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.062,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_018474.6",
"gene_symbol": "KIZ",
"hgnc_id": 15865,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.417C>T",
"hgvs_p": "p.His139His"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000616177.4",
"gene_symbol": "KIZ-AS1",
"hgnc_id": 51231,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.5143+914G>A",
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},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000425746.2",
"gene_symbol": "ENSG00000228604",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.95+914G>A",
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}
],
"clinvar_disease": "KIZ-related disorder,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided|KIZ-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}