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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: 4-1316113-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=1316113&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 1316113,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000303400.9",
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.456+513C>T",
"hgvs_p": null,
"transcript": "NM_001017405.3",
"protein_id": "NP_001017405.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 396,
"cds_start": -4,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2182,
"mane_select": "ENST00000303400.9",
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.456+513C>T",
"hgvs_p": null,
"transcript": "ENST00000303400.9",
"protein_id": "ENSP00000302830.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 396,
"cds_start": -4,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2182,
"mane_select": "NM_001017405.3",
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "n.462+513C>T",
"hgvs_p": null,
"transcript": "ENST00000503693.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 1182,
"mane_select": null,
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "n.456+513C>T",
"hgvs_p": null,
"transcript": "ENST00000509531.5",
"protein_id": "ENSP00000426966.1",
"transcript_support_level": 1,
"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": 1001,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.456+513C>T",
"hgvs_p": null,
"transcript": "ENST00000505177.6",
"protein_id": "ENSP00000422215.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 434,
"cds_start": -4,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1340,
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.453+513C>T",
"hgvs_p": null,
"transcript": "NM_001297432.2",
"protein_id": "NP_001284361.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 395,
"cds_start": -4,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2360,
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.453+513C>T",
"hgvs_p": null,
"transcript": "ENST00000510794.5",
"protein_id": "ENSP00000426807.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 395,
"cds_start": -4,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1607,
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.456+513C>T",
"hgvs_p": null,
"transcript": "NM_005882.5",
"protein_id": "NP_005873.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 355,
"cds_start": -4,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2059,
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.456+513C>T",
"hgvs_p": null,
"transcript": "ENST00000264750.10",
"protein_id": "ENSP00000264750.6",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 355,
"cds_start": -4,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2058,
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.312+513C>T",
"hgvs_p": null,
"transcript": "NM_001297433.2",
"protein_id": "NP_001284362.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 348,
"cds_start": -4,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
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"cdna_length": 2300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.312+513C>T",
"hgvs_p": null,
"transcript": "ENST00000505839.1",
"protein_id": "ENSP00000424436.1",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.252+3952C>T",
"hgvs_p": null,
"transcript": "NM_001297430.2",
"protein_id": "NP_001284359.1",
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},
{
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"canonical": false,
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.456+513C>T",
"hgvs_p": null,
"transcript": "NM_001297431.2",
"protein_id": "NP_001284360.1",
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"aa_start": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.456+513C>T",
"hgvs_p": null,
"transcript": "ENST00000514708.5",
"protein_id": "ENSP00000427512.1",
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},
{
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],
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"gene_symbol": "MAEA",
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"hgvs_c": "c.456+513C>T",
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"transcript": "ENST00000503653.5",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.252+3952C>T",
"hgvs_p": null,
"transcript": "ENST00000502558.5",
"protein_id": "ENSP00000426903.1",
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},
{
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],
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"gene_symbol": "MAEA",
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"hgvs_c": "c.312+513C>T",
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"transcript": "ENST00000512842.5",
"protein_id": "ENSP00000427460.1",
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},
{
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"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "n.*5+3875C>T",
"hgvs_p": null,
"transcript": "ENST00000509254.5",
"protein_id": "ENSP00000426326.1",
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"aa_start": null,
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},
{
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"protein_coding": false,
"strand": true,
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "n.*412+513C>T",
"hgvs_p": null,
"transcript": "ENST00000512308.5",
"protein_id": "ENSP00000422235.1",
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},
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],
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},
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"strand": true,
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"intron_variant"
],
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"gene_symbol": "MAEA",
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"hgvs_c": "n.479+513C>T",
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"transcript": "NR_123716.2",
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},
{
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"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.456+513C>T",
"hgvs_p": null,
"transcript": "XM_006713849.3",
"protein_id": "XP_006713912.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.453+513C>T",
"hgvs_p": null,
"transcript": "XM_006713850.3",
"protein_id": "XP_006713913.1",
"transcript_support_level": null,
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"aa_length": 449,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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{
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{
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],
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"splice_prediction_selected": "Benign",
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{
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"verdict": "Likely_benign",
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],
"clinvar_disease": "",
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"custom_annotations": null
}
],
"message": null
}