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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: 5-141982597-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=141982597&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 141982597,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000394520.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.1064-783A>C",
"hgvs_p": null,
"transcript": "NM_004290.5",
"protein_id": "NP_004281.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 474,
"cds_start": -4,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4170,
"mane_select": "ENST00000394520.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.1064-783A>C",
"hgvs_p": null,
"transcript": "ENST00000394520.7",
"protein_id": "ENSP00000378028.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 474,
"cds_start": -4,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4170,
"mane_select": "NM_004290.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.1064-783A>C",
"hgvs_p": null,
"transcript": "ENST00000356143.5",
"protein_id": "ENSP00000348462.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 474,
"cds_start": -4,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.1064-783A>C",
"hgvs_p": null,
"transcript": "ENST00000394519.5",
"protein_id": "ENSP00000378027.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 474,
"cds_start": -4,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.1064-783A>C",
"hgvs_p": null,
"transcript": "NM_001201365.2",
"protein_id": "NP_001188294.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 474,
"cds_start": -4,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.1064-783A>C",
"hgvs_p": null,
"transcript": "NM_183399.3",
"protein_id": "NP_899646.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 474,
"cds_start": -4,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.1064-783A>C",
"hgvs_p": null,
"transcript": "NM_183400.3",
"protein_id": "NP_899647.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 474,
"cds_start": -4,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.1064-783A>C",
"hgvs_p": null,
"transcript": "NM_183401.3",
"protein_id": "NP_899648.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 474,
"cds_start": -4,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.1064-783A>C",
"hgvs_p": null,
"transcript": "ENST00000347642.7",
"protein_id": "ENSP00000324956.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 474,
"cds_start": -4,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.686-783A>C",
"hgvs_p": null,
"transcript": "NM_183398.3",
"protein_id": "NP_899645.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 348,
"cds_start": -4,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
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"cdna_length": 4018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
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"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.686-783A>C",
"hgvs_p": null,
"transcript": "ENST00000394514.6",
"protein_id": "ENSP00000378022.2",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "RNF14",
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"hgvs_c": "c.155-783A>C",
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"transcript": "ENST00000512565.5",
"protein_id": "ENSP00000426832.1",
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "RNF14",
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"hgvs_c": "n.*189-783A>C",
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"transcript": "ENST00000515613.5",
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},
{
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"strand": false,
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],
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"gene_symbol": "ENSG00000254099",
"gene_hgnc_id": null,
"hgvs_c": "n.73+18T>G",
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"transcript": "ENST00000520882.1",
"protein_id": null,
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},
{
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],
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"gene_symbol": "RNF14",
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"hgvs_c": "c.1064-783A>C",
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"transcript": "XM_011537714.4",
"protein_id": "XP_011536016.1",
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},
{
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],
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"exon_count": 10,
"intron_rank": 7,
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"gene_symbol": "RNF14",
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"hgvs_c": "c.1064-783A>C",
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},
{
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],
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"gene_symbol": "RNF14",
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"transcript": "XM_047417899.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 6,
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"gene_symbol": "RNF14",
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"hgvs_c": "c.1064-783A>C",
"hgvs_p": null,
"transcript": "XM_047417900.1",
"protein_id": "XP_047273856.1",
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},
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 6,
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"gene_symbol": "RNF14",
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"hgvs_c": "c.1064-783A>C",
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},
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],
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"gene_symbol": "RNF14",
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},
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],
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},
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"strand": true,
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],
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"exon_count": 9,
"intron_rank": 6,
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"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.1064-783A>C",
"hgvs_p": null,
"transcript": "XM_047417904.1",
"protein_id": "XP_047273860.1",
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.1064-783A>C",
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"transcript": "XM_047417905.1",
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}