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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: 2-233485841-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=233485841&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 233485841,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000678225.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "c.3334C>T",
"hgvs_p": "p.Arg1112Cys",
"transcript": "NM_001365479.2",
"protein_id": "NP_001352408.1",
"transcript_support_level": null,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1236,
"cds_start": 3334,
"cds_end": null,
"cds_length": 3711,
"cdna_start": 3452,
"cdna_end": null,
"cdna_length": 5695,
"mane_select": "ENST00000678225.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "c.3334C>T",
"hgvs_p": "p.Arg1112Cys",
"transcript": "ENST00000678225.2",
"protein_id": "ENSP00000502952.1",
"transcript_support_level": null,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1236,
"cds_start": 3334,
"cds_end": null,
"cds_length": 3711,
"cdna_start": 3452,
"cdna_end": null,
"cdna_length": 5695,
"mane_select": "NM_001365479.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "c.3331C>T",
"hgvs_p": "p.Arg1111Cys",
"transcript": "ENST00000427112.6",
"protein_id": "ENSP00000387898.2",
"transcript_support_level": 1,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3331,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 3367,
"cdna_end": null,
"cdna_length": 3744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "n.479C>T",
"hgvs_p": null,
"transcript": "ENST00000483519.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "c.3394C>T",
"hgvs_p": "p.Arg1132Cys",
"transcript": "NM_001382296.1",
"protein_id": "NP_001369225.1",
"transcript_support_level": null,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1256,
"cds_start": 3394,
"cds_end": null,
"cds_length": 3771,
"cdna_start": 3512,
"cdna_end": null,
"cdna_length": 5755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "c.3334C>T",
"hgvs_p": "p.Arg1112Cys",
"transcript": "NM_001382295.1",
"protein_id": "NP_001369224.1",
"transcript_support_level": null,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1236,
"cds_start": 3334,
"cds_end": null,
"cds_length": 3711,
"cdna_start": 3447,
"cdna_end": null,
"cdna_length": 5690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "c.3331C>T",
"hgvs_p": "p.Arg1111Cys",
"transcript": "NM_018218.4",
"protein_id": "NP_060688.2",
"transcript_support_level": null,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3331,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 3449,
"cdna_end": null,
"cdna_length": 5692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "c.3331C>T",
"hgvs_p": "p.Arg1111Cys",
"transcript": "ENST00000251722.10",
"protein_id": "ENSP00000251722.6",
"transcript_support_level": 5,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3331,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 3449,
"cdna_end": null,
"cdna_length": 5692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "c.3061C>T",
"hgvs_p": "p.Arg1021Cys",
"transcript": "NM_001382298.1",
"protein_id": "NP_001369227.1",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1145,
"cds_start": 3061,
"cds_end": null,
"cds_length": 3438,
"cdna_start": 3516,
"cdna_end": null,
"cdna_length": 5759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Arg85Cys",
"transcript": "NM_001382302.1",
"protein_id": "NP_001369231.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 209,
"cds_start": 253,
"cds_end": null,
"cds_length": 630,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 2736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Arg78Cys",
"transcript": "ENST00000454354.1",
"protein_id": "ENSP00000394133.1",
"transcript_support_level": 2,
"aa_start": 78,
"aa_end": null,
"aa_length": 114,
"cds_start": 232,
"cds_end": null,
"cds_length": 346,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "c.3346C>T",
"hgvs_p": "p.Arg1116Cys",
"transcript": "XM_011511397.3",
"protein_id": "XP_011509699.1",
"transcript_support_level": null,
"aa_start": 1116,
"aa_end": null,
"aa_length": 1240,
"cds_start": 3346,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 3464,
"cdna_end": null,
"cdna_length": 5707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "c.3073C>T",
"hgvs_p": "p.Arg1025Cys",
"transcript": "XM_011511399.3",
"protein_id": "XP_011509701.1",
"transcript_support_level": null,
"aa_start": 1025,
"aa_end": null,
"aa_length": 1149,
"cds_start": 3073,
"cds_end": null,
"cds_length": 3450,
"cdna_start": 3191,
"cdna_end": null,
"cdna_length": 5434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "c.3061C>T",
"hgvs_p": "p.Arg1021Cys",
"transcript": "XM_047444889.1",
"protein_id": "XP_047300845.1",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1145,
"cds_start": 3061,
"cds_end": null,
"cds_length": 3438,
"cdna_start": 3179,
"cdna_end": null,
"cdna_length": 5422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "c.2962C>T",
"hgvs_p": "p.Arg988Cys",
"transcript": "XM_047444890.1",
"protein_id": "XP_047300846.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1112,
"cds_start": 2962,
"cds_end": null,
"cds_length": 3339,
"cdna_start": 3472,
"cdna_end": null,
"cdna_length": 5715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "c.2950C>T",
"hgvs_p": "p.Arg984Cys",
"transcript": "XM_047444891.1",
"protein_id": "XP_047300847.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1108,
"cds_start": 2950,
"cds_end": null,
"cds_length": 3327,
"cdna_start": 3460,
"cdna_end": null,
"cdna_length": 5703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "c.2311C>T",
"hgvs_p": "p.Arg771Cys",
"transcript": "XM_017004427.2",
"protein_id": "XP_016859916.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 895,
"cds_start": 2311,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2478,
"cdna_end": null,
"cdna_length": 4721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "c.1828C>T",
"hgvs_p": "p.Arg610Cys",
"transcript": "XM_047444893.1",
"protein_id": "XP_047300849.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 734,
"cds_start": 1828,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 1948,
"cdna_end": null,
"cdna_length": 4191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "n.*218C>T",
"hgvs_p": null,
"transcript": "ENST00000450940.5",
"protein_id": "ENSP00000407696.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "n.495C>T",
"hgvs_p": null,
"transcript": "ENST00000473191.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "n.530C>T",
"hgvs_p": null,
"transcript": "ENST00000496298.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "n.3560C>T",
"hgvs_p": null,
"transcript": "NR_168049.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "n.3590C>T",
"hgvs_p": null,
"transcript": "NR_168052.1",
"protein_id": null,
"transcript_support_level": null,
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}
],
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}