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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: 6-99470106-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=99470106&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 99470106,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001080481.3",
"consequences": [
{
"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": 18,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.934-1488T>G",
"hgvs_p": null,
"transcript": "NM_001346022.3",
"protein_id": "NP_001332951.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 814,
"cds_start": null,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5878,
"mane_select": "ENST00000500704.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346022.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.934-1488T>G",
"hgvs_p": null,
"transcript": "ENST00000500704.7",
"protein_id": "ENSP00000424372.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 814,
"cds_start": null,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5878,
"mane_select": "NM_001346022.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000500704.7"
},
{
"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": 18,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.934-1488T>G",
"hgvs_p": null,
"transcript": "ENST00000327681.10",
"protein_id": "ENSP00000333376.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 814,
"cds_start": null,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6255,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327681.10"
},
{
"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": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "n.*74-4970T>G",
"hgvs_p": null,
"transcript": "ENST00000496518.6",
"protein_id": "ENSP00000421248.1",
"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": 5319,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000496518.6"
},
{
"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": 18,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.934-1488T>G",
"hgvs_p": null,
"transcript": "NM_001080481.3",
"protein_id": "NP_001073950.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 814,
"cds_start": null,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6416,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080481.3"
},
{
"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": 18,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.934-1488T>G",
"hgvs_p": null,
"transcript": "NM_001346021.3",
"protein_id": "NP_001332950.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 814,
"cds_start": null,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346021.3"
},
{
"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": 18,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.934-1488T>G",
"hgvs_p": null,
"transcript": "ENST00000917069.1",
"protein_id": "ENSP00000587128.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 814,
"cds_start": null,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5756,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917069.1"
},
{
"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": 18,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.931-1488T>G",
"hgvs_p": null,
"transcript": "NM_001346023.3",
"protein_id": "NP_001332952.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 813,
"cds_start": null,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5875,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346023.3"
},
{
"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": 18,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.931-1488T>G",
"hgvs_p": null,
"transcript": "ENST00000917068.1",
"protein_id": "ENSP00000587127.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 813,
"cds_start": null,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5748,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917068.1"
},
{
"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": 18,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.880-1488T>G",
"hgvs_p": null,
"transcript": "ENST00000917070.1",
"protein_id": "ENSP00000587129.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 796,
"cds_start": null,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2970,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917070.1"
},
{
"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": 17,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.934-1488T>G",
"hgvs_p": null,
"transcript": "ENST00000369233.6",
"protein_id": "ENSP00000358236.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 766,
"cds_start": null,
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"cds_length": 2301,
"cdna_start": null,
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"cdna_length": 2514,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000369233.6"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.934-4970T>G",
"hgvs_p": null,
"transcript": "NM_001346024.3",
"protein_id": "NP_001332953.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 756,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346024.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.931-4970T>G",
"hgvs_p": null,
"transcript": "NM_001346025.3",
"protein_id": "NP_001332954.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 755,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001346025.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
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"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.934-1488T>G",
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"transcript": "NM_001346026.3",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001346026.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.-55-1488T>G",
"hgvs_p": null,
"transcript": "NM_001346027.3",
"protein_id": "NP_001332956.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 454,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346027.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "USP45",
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"hgvs_c": "c.-55-1488T>G",
"hgvs_p": null,
"transcript": "NM_001346028.3",
"protein_id": "NP_001332957.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001346028.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.-55-1488T>G",
"hgvs_p": null,
"transcript": "NM_001346029.3",
"protein_id": "NP_001332958.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001346029.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.934-1488T>G",
"hgvs_p": null,
"transcript": "NM_001346030.2",
"protein_id": "NP_001332959.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001346030.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.463-1488T>G",
"hgvs_p": null,
"transcript": "ENST00000507717.5",
"protein_id": "ENSP00000425876.1",
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"feature": "ENST00000507717.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.64-1488T>G",
"hgvs_p": null,
"transcript": "ENST00000496090.6",
"protein_id": "ENSP00000421706.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000496090.6"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.202-4970T>G",
"hgvs_p": null,
"transcript": "ENST00000511403.5",
"protein_id": "ENSP00000423374.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511403.5"
},
{
"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": 18,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.934-1488T>G",
"hgvs_p": null,
"transcript": "XM_005267170.5",
"protein_id": "XP_005267227.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 814,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 8017,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267170.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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}