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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: 18-6092730-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=6092730&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 6092730,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001330559.2",
"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": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "L3MBTL4",
"gene_hgnc_id": 26677,
"hgvs_c": "c.1373+625A>G",
"hgvs_p": null,
"transcript": "NM_001330559.2",
"protein_id": "NP_001317488.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 614,
"cds_start": -4,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3549,
"mane_select": "ENST00000317931.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "L3MBTL4",
"gene_hgnc_id": 26677,
"hgvs_c": "c.1373+625A>G",
"hgvs_p": null,
"transcript": "ENST00000317931.12",
"protein_id": "ENSP00000318543.7",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 614,
"cds_start": -4,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3549,
"mane_select": "NM_001330559.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank_end": null,
"gene_symbol": "L3MBTL4",
"gene_hgnc_id": 26677,
"hgvs_c": "c.1373+625A>G",
"hgvs_p": null,
"transcript": "ENST00000400104.7",
"protein_id": "ENSP00000382975.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 534,
"cds_start": -4,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "L3MBTL4",
"gene_hgnc_id": 26677,
"hgvs_c": "c.1373+625A>G",
"hgvs_p": null,
"transcript": "NM_001365770.2",
"protein_id": "NP_001352699.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 623,
"cds_start": -4,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "L3MBTL4",
"gene_hgnc_id": 26677,
"hgvs_c": "c.1373+625A>G",
"hgvs_p": null,
"transcript": "NM_173464.4",
"protein_id": "NP_775735.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 623,
"cds_start": -4,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "L3MBTL4",
"gene_hgnc_id": 26677,
"hgvs_c": "c.1373+625A>G",
"hgvs_p": null,
"transcript": "ENST00000400105.6",
"protein_id": "ENSP00000382976.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 623,
"cds_start": -4,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "L3MBTL4",
"gene_hgnc_id": 26677,
"hgvs_c": "c.1373+625A>G",
"hgvs_p": null,
"transcript": "NM_001365765.2",
"protein_id": "NP_001352694.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 614,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank_end": null,
"gene_symbol": "L3MBTL4",
"gene_hgnc_id": 26677,
"hgvs_c": "c.1373+625A>G",
"hgvs_p": null,
"transcript": "NM_001365767.2",
"protein_id": "NP_001352696.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 534,
"cds_start": -4,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank_end": null,
"gene_symbol": "L3MBTL4",
"gene_hgnc_id": 26677,
"hgvs_c": "c.1373+625A>G",
"hgvs_p": null,
"transcript": "NM_001365766.2",
"protein_id": "NP_001352695.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 497,
"cds_start": -4,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
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"cdna_length": 2628,
"mane_select": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 15,
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"gene_symbol": "L3MBTL4",
"gene_hgnc_id": 26677,
"hgvs_c": "c.1373+625A>G",
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"transcript": "NM_001365768.2",
"protein_id": "NP_001352697.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "L3MBTL4",
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"hgvs_c": "c.1373+625A>G",
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"transcript": "NM_001365769.2",
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},
{
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],
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"gene_symbol": "ENSG00000266846",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "L3MBTL4",
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"hgvs_c": "n.1574+625A>G",
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"transcript": "NR_158609.2",
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},
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],
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"gene_symbol": "L3MBTL4",
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],
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},
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],
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"gene_symbol": "L3MBTL4",
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],
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"transcript": "XM_011525759.2",
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],
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"gene_symbol": "L3MBTL4",
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"transcript": "XM_011525760.2",
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},
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],
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"gene_symbol": "L3MBTL4",
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}
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}