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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: 13-20635373-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=20635373&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 20635373,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000351808.10",
"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": 26,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1387-2959G>T",
"hgvs_p": null,
"transcript": "NM_006531.5",
"protein_id": "NP_006522.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 824,
"cds_start": -4,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2850,
"mane_select": "ENST00000351808.10",
"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": 26,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1387-2959G>T",
"hgvs_p": null,
"transcript": "ENST00000351808.10",
"protein_id": "ENSP00000261632.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 824,
"cds_start": -4,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2850,
"mane_select": "NM_006531.5",
"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": 28,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1414-2959G>T",
"hgvs_p": null,
"transcript": "ENST00000319980.10",
"protein_id": "ENSP00000323580.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 833,
"cds_start": -4,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3091,
"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": 27,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1414-2959G>T",
"hgvs_p": null,
"transcript": "NM_001318493.2",
"protein_id": "NP_001305422.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 833,
"cds_start": -4,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3178,
"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": 27,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1414-2959G>T",
"hgvs_p": null,
"transcript": "NM_001353565.2",
"protein_id": "NP_001340494.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 833,
"cds_start": -4,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2963,
"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": 28,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1414-2959G>T",
"hgvs_p": null,
"transcript": "NM_001353566.2",
"protein_id": "NP_001340495.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 833,
"cds_start": -4,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3070,
"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": 27,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1414-2959G>T",
"hgvs_p": null,
"transcript": "NM_001353567.2",
"protein_id": "NP_001340496.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 833,
"cds_start": -4,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2954,
"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": 28,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1414-2959G>T",
"hgvs_p": null,
"transcript": "NM_175605.5",
"protein_id": "NP_783195.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 833,
"cds_start": -4,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3079,
"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": 29,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1387-2959G>T",
"hgvs_p": null,
"transcript": "NM_001353568.2",
"protein_id": "NP_001340497.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 824,
"cds_start": -4,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
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"cdna_length": 3210,
"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": 25,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1330-2959G>T",
"hgvs_p": null,
"transcript": "NM_001318491.2",
"protein_id": "NP_001305420.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1312-2959G>T",
"hgvs_p": null,
"transcript": "NM_001353569.2",
"protein_id": "NP_001340498.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "IFT88",
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},
{
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"strand": true,
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],
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"gene_symbol": "IFT88",
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},
{
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],
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"gene_symbol": "IFT88",
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"hgvs_c": "c.1387-2959G>T",
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},
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],
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"transcript": "NM_001353573.2",
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},
{
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],
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"gene_symbol": "IFT88",
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},
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],
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"hgvs_c": "c.1330-2959G>T",
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},
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],
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"gene_symbol": "IFT88",
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"hgvs_c": "c.1312-2959G>T",
"hgvs_p": null,
"transcript": "NM_001353576.2",
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],
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],
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},
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],
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},
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],
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"gene_symbol": "IFT88",
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"hgvs_c": "c.796-2959G>T",
"hgvs_p": null,
"transcript": "ENST00000537103.2",
"protein_id": "ENSP00000437719.2",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 3,
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"gene_symbol": "IFT88",
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"hgvs_c": "n.276+4271G>T",
"hgvs_p": null,
"transcript": "ENST00000482172.5",
"protein_id": null,
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}