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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: 16-53638442-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=53638442&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 53638442,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_015272.5",
"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": 27,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.2959-31A>G",
"hgvs_p": null,
"transcript": "NM_015272.5",
"protein_id": "NP_056087.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1315,
"cds_start": null,
"cds_end": null,
"cds_length": 3948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000647211.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015272.5"
},
{
"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": 27,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.2959-31A>G",
"hgvs_p": null,
"transcript": "ENST00000647211.2",
"protein_id": "ENSP00000493946.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1315,
"cds_start": null,
"cds_end": null,
"cds_length": 3948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015272.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647211.2"
},
{
"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": 26,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.2959-588A>G",
"hgvs_p": null,
"transcript": "ENST00000563746.5",
"protein_id": "ENSP00000457889.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1281,
"cds_start": null,
"cds_end": null,
"cds_length": 3846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563746.5"
},
{
"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": 26,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.2959-31A>G",
"hgvs_p": null,
"transcript": "ENST00000621565.5",
"protein_id": "ENSP00000480698.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1269,
"cds_start": null,
"cds_end": null,
"cds_length": 3810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621565.5"
},
{
"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": 26,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.2959-588A>G",
"hgvs_p": null,
"transcript": "NM_001330538.2",
"protein_id": "NP_001317467.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1281,
"cds_start": null,
"cds_end": null,
"cds_length": 3846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330538.2"
},
{
"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": 27,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.2971-31A>G",
"hgvs_p": null,
"transcript": "ENST00000944945.1",
"protein_id": "ENSP00000615004.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1273,
"cds_start": null,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944945.1"
},
{
"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": 26,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.2959-31A>G",
"hgvs_p": null,
"transcript": "NM_001308334.3",
"protein_id": "NP_001295263.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1269,
"cds_start": null,
"cds_end": null,
"cds_length": 3810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308334.3"
},
{
"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": 25,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.2959-31A>G",
"hgvs_p": null,
"transcript": "ENST00000564374.5",
"protein_id": "ENSP00000456534.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1253,
"cds_start": null,
"cds_end": null,
"cds_length": 3762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564374.5"
},
{
"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": 25,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.2959-588A>G",
"hgvs_p": null,
"transcript": "NM_001127897.4",
"protein_id": "NP_001121369.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1235,
"cds_start": null,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127897.4"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.2959-588A>G",
"hgvs_p": null,
"transcript": "ENST00000262135.9",
"protein_id": "ENSP00000262135.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1235,
"cds_start": null,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262135.9"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.2875-588A>G",
"hgvs_p": null,
"transcript": "ENST00000935860.1",
"protein_id": "ENSP00000605919.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1207,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 28,
"intron_rank": 20,
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"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.2971-31A>G",
"hgvs_p": null,
"transcript": "XM_047433869.1",
"protein_id": "XP_047289825.1",
"transcript_support_level": null,
"aa_start": 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": "XM_047433869.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 19,
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"gene_symbol": "RPGRIP1L",
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"hgvs_c": "c.2959-31A>G",
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"transcript": "XM_047433870.1",
"protein_id": "XP_047289826.1",
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
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},
{
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],
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"gene_symbol": "RPGRIP1L",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 20,
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"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.2971-31A>G",
"hgvs_p": null,
"transcript": "XM_005255868.3",
"protein_id": "XP_005255925.1",
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},
{
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],
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"intron_rank": 20,
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"gene_symbol": "RPGRIP1L",
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"transcript": "XM_017023095.3",
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},
{
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],
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"exon_count": 25,
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"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.2959-588A>G",
"hgvs_p": null,
"transcript": "XM_047433872.1",
"protein_id": "XP_047289828.1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.2959-31A>G",
"hgvs_p": null,
"transcript": "XM_047433873.1",
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},
{
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],
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"intron_rank": 20,
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"gene_symbol": "RPGRIP1L",
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},
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"strand": false,
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],
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"intron_rank": 19,
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"gene_symbol": "RPGRIP1L",
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},
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],
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"intron_rank": 20,
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"gene_symbol": "RPGRIP1L",
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"hgvs_c": "c.2971-31A>G",
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"transcript": "XM_011522971.4",
"protein_id": "XP_011521273.1",
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"biotype": "protein_coding",
"feature": "XM_011522971.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.2971-31A>G",
"hgvs_p": null,
"transcript": "XM_047433875.1",
"protein_id": "XP_047289831.1",
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"biotype": "protein_coding",
"feature": "XM_047433875.1"
},
{
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{
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"BS1",
"BS2"
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"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
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"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}