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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: 12-112835245-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=112835245&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 112835245,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000389385.9",
"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": 22,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.72-1246C>T",
"hgvs_p": null,
"transcript": "NM_001143854.2",
"protein_id": "NP_001137326.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 694,
"cds_start": -4,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4590,
"mane_select": "ENST00000389385.9",
"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": 22,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.72-1246C>T",
"hgvs_p": null,
"transcript": "ENST00000389385.9",
"protein_id": "ENSP00000374036.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 694,
"cds_start": -4,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4590,
"mane_select": "NM_001143854.2",
"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": 21,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.71+6856C>T",
"hgvs_p": null,
"transcript": "ENST00000551052.5",
"protein_id": "ENSP00000448297.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 690,
"cds_start": -4,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2961,
"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": 22,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.72-1246C>T",
"hgvs_p": null,
"transcript": "NM_001347952.2",
"protein_id": "NP_001334881.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 694,
"cds_start": -4,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4409,
"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": 22,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.72-1246C>T",
"hgvs_p": null,
"transcript": "NM_001347953.1",
"protein_id": "NP_001334882.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 694,
"cds_start": -4,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4398,
"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": 22,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.72-1246C>T",
"hgvs_p": null,
"transcript": "NM_001347954.2",
"protein_id": "NP_001334883.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 694,
"cds_start": -4,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4562,
"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": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.72-1246C>T",
"hgvs_p": null,
"transcript": "ENST00000415485.7",
"protein_id": "ENSP00000405357.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 694,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4452,
"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": 22,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.72-1246C>T",
"hgvs_p": null,
"transcript": "ENST00000543106.6",
"protein_id": "ENSP00000440384.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 694,
"cds_start": -4,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2581,
"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": 21,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.71+6856C>T",
"hgvs_p": null,
"transcript": "NM_014954.4",
"protein_id": "NP_055769.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 690,
"cds_start": -4,
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"cds_length": 2073,
"cdna_start": null,
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"cdna_length": 4578,
"mane_select": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 2,
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"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.72-1246C>T",
"hgvs_p": null,
"transcript": "ENST00000548866.5",
"protein_id": "ENSP00000450347.1",
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": 645,
"cds_start": -4,
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"cdna_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 2,
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"gene_symbol": "RPH3A",
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"hgvs_c": "c.-130-1246C>T",
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"transcript": "NM_001347955.2",
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},
{
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],
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"gene_symbol": "RPH3A",
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"transcript": "ENST00000551593.5",
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},
{
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],
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"hgvs_c": "c.72-1246C>T",
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},
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],
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},
{
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],
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],
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"hgvs_c": "c.72-1246C>T",
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},
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],
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"gene_symbol": "RPH3A",
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"hgvs_c": "c.72-1246C>T",
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"transcript": "ENST00000549769.5",
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],
"exon_rank": null,
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],
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},
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"strand": true,
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],
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"gene_symbol": "RPH3A",
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"hgvs_c": "c.72-1246C>T",
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"transcript": "ENST00000546703.5",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
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"gene_symbol": "RPH3A",
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"hgvs_c": "c.-130-1246C>T",
"hgvs_p": null,
"transcript": "ENST00000550901.5",
"protein_id": "ENSP00000448100.1",
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}
],
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}