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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: 3-149875124-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=149875124&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 149875124,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000392894.8",
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RNF13",
"gene_hgnc_id": 10057,
"hgvs_c": "c.321+2970G>A",
"hgvs_p": null,
"transcript": "NM_183381.3",
"protein_id": "NP_899237.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": -4,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2336,
"mane_select": "ENST00000392894.8",
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RNF13",
"gene_hgnc_id": 10057,
"hgvs_c": "c.321+2970G>A",
"hgvs_p": null,
"transcript": "ENST00000392894.8",
"protein_id": "ENSP00000376628.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": -4,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2336,
"mane_select": "NM_183381.3",
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RNF13",
"gene_hgnc_id": 10057,
"hgvs_c": "c.321+2970G>A",
"hgvs_p": null,
"transcript": "ENST00000344229.7",
"protein_id": "ENSP00000341361.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": -4,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2866,
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RNF13",
"gene_hgnc_id": 10057,
"hgvs_c": "c.321+2970G>A",
"hgvs_p": null,
"transcript": "NM_001378285.1",
"protein_id": "NP_001365214.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": -4,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2568,
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RNF13",
"gene_hgnc_id": 10057,
"hgvs_c": "c.321+2970G>A",
"hgvs_p": null,
"transcript": "NM_001378286.1",
"protein_id": "NP_001365215.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": -4,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2469,
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RNF13",
"gene_hgnc_id": 10057,
"hgvs_c": "c.321+2970G>A",
"hgvs_p": null,
"transcript": "NM_007282.4",
"protein_id": "NP_009213.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": -4,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2965,
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RNF13",
"gene_hgnc_id": 10057,
"hgvs_c": "c.-47+2970G>A",
"hgvs_p": null,
"transcript": "NM_001378287.1",
"protein_id": "NP_001365216.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 262,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2448,
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RNF13",
"gene_hgnc_id": 10057,
"hgvs_c": "c.-47+2970G>A",
"hgvs_p": null,
"transcript": "NM_001378288.1",
"protein_id": "NP_001365217.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 262,
"cds_start": -4,
"cds_end": null,
"cds_length": 789,
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RNF13",
"gene_hgnc_id": 10057,
"hgvs_c": "c.-47+2970G>A",
"hgvs_p": null,
"transcript": "NM_001378289.1",
"protein_id": "NP_001365218.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 262,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "RNF13",
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"hgvs_c": "c.-47+2970G>A",
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"transcript": "NM_001378290.1",
"protein_id": "NP_001365219.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "RNF13",
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"hgvs_c": "c.-47+2970G>A",
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"transcript": "NM_183383.2",
"protein_id": "NP_899239.2",
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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": "RNF13",
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],
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},
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],
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},
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],
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"transcript": "ENST00000467977.5",
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},
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],
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"gene_symbol": "ANKUB1",
"gene_hgnc_id": 29642,
"hgvs_c": "n.129+18683C>T",
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"transcript": "ENST00000481585.1",
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},
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RNF13",
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"hgvs_c": "n.476+2970G>A",
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"transcript": "NR_165474.1",
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}
],
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}