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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: 12-42226575-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=42226575&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 42226575,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000534854.7",
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "YAF2",
"gene_hgnc_id": 17363,
"hgvs_c": "c.152+11024C>A",
"hgvs_p": null,
"transcript": "NM_005748.6",
"protein_id": "NP_005739.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 180,
"cds_start": -4,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4096,
"mane_select": "ENST00000534854.7",
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "YAF2",
"gene_hgnc_id": 17363,
"hgvs_c": "c.152+11024C>A",
"hgvs_p": null,
"transcript": "ENST00000534854.7",
"protein_id": "ENSP00000439256.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 180,
"cds_start": -4,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4096,
"mane_select": "NM_005748.6",
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "YAF2",
"gene_hgnc_id": 17363,
"hgvs_c": "c.152+11024C>A",
"hgvs_p": null,
"transcript": "ENST00000327791.8",
"protein_id": "ENSP00000328004.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 204,
"cds_start": -4,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4156,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "YAF2",
"gene_hgnc_id": 17363,
"hgvs_c": "c.152+11024C>A",
"hgvs_p": null,
"transcript": "NM_001190979.3",
"protein_id": "NP_001177908.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 204,
"cds_start": -4,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4168,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "YAF2",
"gene_hgnc_id": 17363,
"hgvs_c": "c.25+11024C>A",
"hgvs_p": null,
"transcript": "NM_001320080.2",
"protein_id": "NP_001307009.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 171,
"cds_start": -4,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4196,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "YAF2",
"gene_hgnc_id": 17363,
"hgvs_c": "c.26+11580C>A",
"hgvs_p": null,
"transcript": "NM_001190977.3",
"protein_id": "NP_001177906.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 138,
"cds_start": -4,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3970,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "YAF2",
"gene_hgnc_id": 17363,
"hgvs_c": "c.26+11580C>A",
"hgvs_p": null,
"transcript": "ENST00000380790.4",
"protein_id": "ENSP00000370167.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 138,
"cds_start": -4,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1211,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "YAF2",
"gene_hgnc_id": 17363,
"hgvs_c": "c.35+11024C>A",
"hgvs_p": null,
"transcript": "ENST00000548917.1",
"protein_id": "ENSP00000447686.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 33,
"cds_start": -4,
"cds_end": null,
"cds_length": 102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "YAF2",
"gene_hgnc_id": 17363,
"hgvs_c": "n.152+11024C>A",
"hgvs_p": null,
"transcript": "ENST00000546726.5",
"protein_id": "ENSP00000447863.1",
"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": 580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "YAF2",
"gene_hgnc_id": 17363,
"hgvs_c": "n.152+11024C>A",
"hgvs_p": null,
"transcript": "ENST00000547254.5",
"protein_id": "ENSP00000448312.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
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"gene_symbol": "YAF2",
"gene_hgnc_id": 17363,
"hgvs_c": "n.152+11024C>A",
"hgvs_p": null,
"transcript": "ENST00000547351.5",
"protein_id": "ENSP00000450394.1",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "YAF2",
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"hgvs_c": "n.97+10841C>A",
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"transcript": "ENST00000547622.5",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "YAF2",
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"hgvs_c": "n.202+11024C>A",
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"transcript": "ENST00000547724.1",
"protein_id": null,
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"cds_start": -4,
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},
{
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],
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"gene_symbol": "YAF2",
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"hgvs_c": "n.26+11580C>A",
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"transcript": "ENST00000548661.5",
"protein_id": "ENSP00000447217.1",
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},
{
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],
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"transcript": "ENST00000551268.5",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
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"gene_symbol": "YAF2",
"gene_hgnc_id": 17363,
"hgvs_c": "n.152+11024C>A",
"hgvs_p": null,
"transcript": "ENST00000552109.5",
"protein_id": "ENSP00000448533.1",
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},
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],
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"gene_symbol": "YAF2",
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"hgvs_c": "n.152+11024C>A",
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"transcript": "ENST00000552928.5",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "YAF2",
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"hgvs_c": "n.220+11024C>A",
"hgvs_p": null,
"transcript": "NR_135139.2",
"protein_id": null,
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},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 2,
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"gene_symbol": "YAF2",
"gene_hgnc_id": 17363,
"hgvs_c": "n.220+11024C>A",
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},
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],
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"hgvs_c": "c.152+11024C>A",
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},
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],
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"gene_symbol": "YAF2",
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},
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],
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"gene_symbol": "YAF2",
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"hgvs_c": "c.10+10848C>A",
"hgvs_p": null,
"transcript": "XM_006719185.4",
"protein_id": "XP_006719248.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "YAF2",
"gene_hgnc_id": 17363,
"hgvs_c": "c.25+11024C>A",
"hgvs_p": null,
"transcript": "XM_047428049.1",
"protein_id": "XP_047284005.1",
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},
{
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"protein_coding": true,
"strand": false,
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}
],
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}