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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: 11-89354977-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=89354977&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 89354977,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001291927.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX4",
"gene_hgnc_id": 7891,
"hgvs_c": "c.1202C>G",
"hgvs_p": "p.Ser401Cys",
"transcript": "NM_016931.5",
"protein_id": "NP_058627.2",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 578,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263317.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016931.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX4",
"gene_hgnc_id": 7891,
"hgvs_c": "c.1202C>G",
"hgvs_p": "p.Ser401Cys",
"transcript": "ENST00000263317.9",
"protein_id": "ENSP00000263317.4",
"transcript_support_level": 1,
"aa_start": 401,
"aa_end": null,
"aa_length": 578,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016931.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263317.9"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX4",
"gene_hgnc_id": 7891,
"hgvs_c": "c.1202C>G",
"hgvs_p": "p.Ser401Cys",
"transcript": "ENST00000534731.5",
"protein_id": "ENSP00000436892.1",
"transcript_support_level": 1,
"aa_start": 401,
"aa_end": null,
"aa_length": 538,
"cds_start": 1202,
"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": "ENST00000534731.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX4",
"gene_hgnc_id": 7891,
"hgvs_c": "c.281C>G",
"hgvs_p": "p.Ser94Cys",
"transcript": "ENST00000375979.7",
"protein_id": "ENSP00000365146.3",
"transcript_support_level": 1,
"aa_start": 94,
"aa_end": null,
"aa_length": 271,
"cds_start": 281,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375979.7"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX4",
"gene_hgnc_id": 7891,
"hgvs_c": "c.281C>G",
"hgvs_p": "p.Ser94Cys",
"transcript": "ENST00000531342.5",
"protein_id": "ENSP00000435039.1",
"transcript_support_level": 1,
"aa_start": 94,
"aa_end": null,
"aa_length": 231,
"cds_start": 281,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531342.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NOX4",
"gene_hgnc_id": 7891,
"hgvs_c": "c.630-14806C>G",
"hgvs_p": null,
"transcript": "ENST00000525196.5",
"protein_id": "ENSP00000436716.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 342,
"cds_start": null,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525196.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX4",
"gene_hgnc_id": 7891,
"hgvs_c": "n.*82C>G",
"hgvs_p": null,
"transcript": "ENST00000529343.5",
"protein_id": "ENSP00000435474.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000529343.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX4",
"gene_hgnc_id": 7891,
"hgvs_c": "n.*82C>G",
"hgvs_p": null,
"transcript": "ENST00000529343.5",
"protein_id": "ENSP00000435474.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000529343.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX4",
"gene_hgnc_id": 7891,
"hgvs_c": "c.1265C>G",
"hgvs_p": "p.Ser422Cys",
"transcript": "NM_001291927.1",
"protein_id": "NP_001278856.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 599,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291927.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX4",
"gene_hgnc_id": 7891,
"hgvs_c": "c.1202C>G",
"hgvs_p": "p.Ser401Cys",
"transcript": "ENST00000936348.1",
"protein_id": "ENSP00000606407.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 577,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936348.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX4",
"gene_hgnc_id": 7891,
"hgvs_c": "c.1139C>G",
"hgvs_p": "p.Ser380Cys",
"transcript": "ENST00000942524.1",
"protein_id": "ENSP00000612583.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 557,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942524.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX4",
"gene_hgnc_id": 7891,
"hgvs_c": "c.1130C>G",
"hgvs_p": "p.Ser377Cys",
"transcript": "NM_001143837.2",
"protein_id": "NP_001137309.2",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 554,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143837.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX4",
"gene_hgnc_id": 7891,
"hgvs_c": "c.1130C>G",
"hgvs_p": "p.Ser377Cys",
"transcript": "ENST00000343727.9",
"protein_id": "ENSP00000344747.5",
"transcript_support_level": 2,
"aa_start": 377,
"aa_end": null,
"aa_length": 554,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343727.9"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX4",
"gene_hgnc_id": 7891,
"hgvs_c": "c.1130C>G",
"hgvs_p": "p.Ser377Cys",
"transcript": "ENST00000424319.5",
"protein_id": "ENSP00000412446.1",
"transcript_support_level": 5,
"aa_start": 377,
"aa_end": null,
"aa_length": 554,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424319.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX4",
"gene_hgnc_id": 7891,
"hgvs_c": "c.1130C>G",
"hgvs_p": "p.Ser377Cys",
"transcript": "ENST00000527956.5",
"protein_id": "ENSP00000433797.1",
"transcript_support_level": 5,
"aa_start": 377,
"aa_end": null,
"aa_length": 554,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527956.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX4",
"gene_hgnc_id": 7891,
"hgvs_c": "c.1127C>G",
"hgvs_p": "p.Ser376Cys",
"transcript": "NM_001291929.2",
"protein_id": "NP_001278858.2",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 553,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291929.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX4",
"gene_hgnc_id": 7891,
"hgvs_c": "c.1127C>G",
"hgvs_p": "p.Ser376Cys",
"transcript": "ENST00000528341.5",
"protein_id": "ENSP00000436970.1",
"transcript_support_level": 2,
"aa_start": 376,
"aa_end": null,
"aa_length": 553,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528341.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX4",
"gene_hgnc_id": 7891,
"hgvs_c": "c.1202C>G",
"hgvs_p": "p.Ser401Cys",
"transcript": "NM_001143836.3",
"protein_id": "NP_001137308.2",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 538,
"cds_start": 1202,
"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": "NM_001143836.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX4",
"gene_hgnc_id": 7891,
"hgvs_c": "c.1130C>G",
"hgvs_p": "p.Ser377Cys",
"transcript": "NM_001300995.1",
"protein_id": "NP_001287924.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 514,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300995.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX4",
"gene_hgnc_id": 7891,
"hgvs_c": "c.1130C>G",
"hgvs_p": "p.Ser377Cys",
"transcript": "ENST00000532825.5",
"protein_id": "ENSP00000434924.1",
"transcript_support_level": 2,
"aa_start": 377,
"aa_end": null,
"aa_length": 514,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532825.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX4",
"gene_hgnc_id": 7891,
"hgvs_c": "c.980C>G",
"hgvs_p": "p.Ser327Cys",
"transcript": "NM_001291926.2",
"protein_id": "NP_001278855.2",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 504,
"cds_start": 980,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291926.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX4",
"gene_hgnc_id": 7891,
"hgvs_c": "c.704C>G",
"hgvs_p": "p.Ser235Cys",
"transcript": "ENST00000527626.5",
"protein_id": "ENSP00000436093.1",
"transcript_support_level": 2,
"aa_start": 235,
"aa_end": null,
"aa_length": 391,
"cds_start": 704,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527626.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX4",
"gene_hgnc_id": 7891,
"hgvs_c": "c.*101C>G",
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"transcript": "XM_017017843.3",
"protein_id": "XP_016873332.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 420,
"cds_start": null,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017843.3"
}
],
"gene_symbol": "NOX4",
"gene_hgnc_id": 7891,
"dbsnp": "rs138335737",
"frequency_reference_population": 0.0000020831164,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000208312,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5579909086227417,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.471,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0734,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.857,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.05,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001291927.1",
"gene_symbol": "NOX4",
"hgnc_id": 7891,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1265C>G",
"hgvs_p": "p.Ser422Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}