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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: 2-237644330-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=237644330&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 237644330,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000308482.14",
"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": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LRRFIP1",
"gene_hgnc_id": 6702,
"hgvs_c": "c.96+16590C>T",
"hgvs_p": null,
"transcript": "NM_001137550.2",
"protein_id": "NP_001131022.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 640,
"cds_start": -4,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4092,
"mane_select": "ENST00000308482.14",
"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": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LRRFIP1",
"gene_hgnc_id": 6702,
"hgvs_c": "c.96+16590C>T",
"hgvs_p": null,
"transcript": "ENST00000308482.14",
"protein_id": "ENSP00000310109.9",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 640,
"cds_start": -4,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4092,
"mane_select": "NM_001137550.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LRRFIP1",
"gene_hgnc_id": 6702,
"hgvs_c": "n.134+16590C>T",
"hgvs_p": null,
"transcript": "ENST00000465870.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1626,
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LRRFIP1",
"gene_hgnc_id": 6702,
"hgvs_c": "c.96+16590C>T",
"hgvs_p": null,
"transcript": "XM_047446293.1",
"protein_id": "XP_047302249.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 998,
"cds_start": -4,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4830,
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LRRFIP1",
"gene_hgnc_id": 6702,
"hgvs_c": "c.96+16590C>T",
"hgvs_p": null,
"transcript": "XM_047446294.1",
"protein_id": "XP_047302250.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 985,
"cds_start": -4,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4791,
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LRRFIP1",
"gene_hgnc_id": 6702,
"hgvs_c": "c.96+16590C>T",
"hgvs_p": null,
"transcript": "XM_047446295.1",
"protein_id": "XP_047302251.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 935,
"cds_start": -4,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4641,
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LRRFIP1",
"gene_hgnc_id": 6702,
"hgvs_c": "c.96+16590C>T",
"hgvs_p": null,
"transcript": "XM_047446296.1",
"protein_id": "XP_047302252.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 922,
"cds_start": -4,
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"cds_length": 2769,
"cdna_start": null,
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"cdna_length": 4602,
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LRRFIP1",
"gene_hgnc_id": 6702,
"hgvs_c": "c.96+16590C>T",
"hgvs_p": null,
"transcript": "XM_047446297.1",
"protein_id": "XP_047302253.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 911,
"cds_start": -4,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4569,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LRRFIP1",
"gene_hgnc_id": 6702,
"hgvs_c": "c.96+16590C>T",
"hgvs_p": null,
"transcript": "XM_047446298.1",
"protein_id": "XP_047302254.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 902,
"cds_start": -4,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
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"cdna_length": 4542,
"mane_select": null,
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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": 15,
"intron_rank": 1,
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"gene_symbol": "LRRFIP1",
"gene_hgnc_id": 6702,
"hgvs_c": "c.96+16590C>T",
"hgvs_p": null,
"transcript": "XM_047446299.1",
"protein_id": "XP_047302255.1",
"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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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "LRRFIP1",
"gene_hgnc_id": 6702,
"hgvs_c": "c.96+16590C>T",
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"transcript": "XM_047446301.1",
"protein_id": "XP_047302257.1",
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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": "LRRFIP1",
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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": "LRRFIP1",
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"hgvs_c": "c.96+16590C>T",
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"transcript": "XM_047446312.1",
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],
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],
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"gene_symbol": "LRRFIP1",
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"hgvs_c": "c.96+16590C>T",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "LRRFIP1",
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"hgvs_c": "c.96+16590C>T",
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