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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: X-13734776-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=13734776&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 13734776,
"ref": "G",
"alt": "A",
"effect": "5_prime_UTR_variant",
"transcript": "NM_003611.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.-296G>A",
"hgvs_p": null,
"transcript": "NM_003611.3",
"protein_id": "NP_003602.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1012,
"cds_start": -4,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3612,
"mane_select": "ENST00000340096.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.-296G>A",
"hgvs_p": null,
"transcript": "ENST00000340096.11",
"protein_id": "ENSP00000344314.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1012,
"cds_start": -4,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3612,
"mane_select": "NM_003611.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "n.-296G>A",
"hgvs_p": null,
"transcript": "ENST00000380567.6",
"protein_id": "ENSP00000369941.2",
"transcript_support_level": 5,
"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": 3736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "n.34G>A",
"hgvs_p": null,
"transcript": "ENST00000485052.6",
"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": 669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "n.-296G>A",
"hgvs_p": null,
"transcript": "ENST00000682237.1",
"protein_id": "ENSP00000507121.1",
"transcript_support_level": null,
"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": 4259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "n.-296G>A",
"hgvs_p": null,
"transcript": "ENST00000682953.1",
"protein_id": "ENSP00000507878.1",
"transcript_support_level": null,
"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": 4299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "n.-296G>A",
"hgvs_p": null,
"transcript": "ENST00000683284.1",
"protein_id": "ENSP00000507837.1",
"transcript_support_level": null,
"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": 5598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "n.-296G>A",
"hgvs_p": null,
"transcript": "ENST00000683427.1",
"protein_id": "ENSP00000507290.1",
"transcript_support_level": null,
"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": 5483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "n.-296G>A",
"hgvs_p": null,
"transcript": "ENST00000683713.1",
"protein_id": "ENSP00000507797.1",
"transcript_support_level": null,
"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": 5676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "n.-296G>A",
"hgvs_p": null,
"transcript": "ENST00000684577.1",
"protein_id": "ENSP00000507871.1",
"transcript_support_level": null,
"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": 3498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.-296G>A",
"hgvs_p": null,
"transcript": "NM_001440947.1",
"protein_id": "NP_001427876.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 975,
"cds_start": -4,
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"cds_length": 2928,
"cdna_start": null,
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"cdna_length": 3501,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.-296G>A",
"hgvs_p": null,
"transcript": "NM_001330209.2",
"protein_id": "NP_001317138.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 972,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.-296G>A",
"hgvs_p": null,
"transcript": "NM_001440948.1",
"protein_id": "NP_001427877.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 935,
"cds_start": -4,
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"cds_length": 2808,
"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.-841G>A",
"hgvs_p": null,
"transcript": "NM_001330210.2",
"protein_id": "NP_001317139.1",
"transcript_support_level": null,
"aa_start": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
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"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "n.-296G>A",
"hgvs_p": null,
"transcript": "ENST00000380567.6",
"protein_id": "ENSP00000369941.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "n.-296G>A",
"hgvs_p": null,
"transcript": "ENST00000682237.1",
"protein_id": "ENSP00000507121.1",
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"aa_start": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "n.-296G>A",
"hgvs_p": null,
"transcript": "ENST00000682953.1",
"protein_id": "ENSP00000507878.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "n.-296G>A",
"hgvs_p": null,
"transcript": "ENST00000683284.1",
"protein_id": "ENSP00000507837.1",
"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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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "n.-296G>A",
"hgvs_p": null,
"transcript": "ENST00000683427.1",
"protein_id": "ENSP00000507290.1",
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},
{
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"strand": true,
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],
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"exon_count": 21,
"intron_rank": null,
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"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "n.-296G>A",
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"transcript": "ENST00000683713.1",
"protein_id": "ENSP00000507797.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
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"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "n.-296G>A",
"hgvs_p": null,
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"protein_id": "ENSP00000507871.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.-296G>A",
"hgvs_p": null,
"transcript": "XM_047442592.1",
"protein_id": "XP_047298548.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 869,
"cds_start": -4,
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"cds_length": 2610,
"cdna_start": null,
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"cdna_length": 3001,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.-296G>A",
"hgvs_p": null,
"transcript": "XM_047442595.1",
"protein_id": "XP_047298551.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 829,
"cds_start": -4,
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"cdna_start": null,
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],
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"splice_prediction_selected": "Benign",
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{
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"BS2"
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"verdict": "Benign",
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{
"score": -8,
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}