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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: 7-123545803-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=123545803&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 123545803,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_001291304.2",
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.184-127T>A",
"hgvs_p": null,
"transcript": "NM_005000.5",
"protein_id": "NP_004991.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 116,
"cds_start": null,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5496,
"mane_select": "ENST00000355749.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005000.5"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.184-127T>A",
"hgvs_p": null,
"transcript": "ENST00000355749.7",
"protein_id": "ENSP00000347988.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 116,
"cds_start": null,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5496,
"mane_select": "NM_005000.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355749.7"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.184-127T>A",
"hgvs_p": null,
"transcript": "ENST00000471770.5",
"protein_id": "ENSP00000417142.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 116,
"cds_start": null,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5608,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471770.5"
},
{
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.382-127T>A",
"hgvs_p": null,
"transcript": "NM_001291304.2",
"protein_id": "NP_001278233.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 182,
"cds_start": null,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5736,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291304.2"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.271-127T>A",
"hgvs_p": null,
"transcript": "ENST00000678090.1",
"protein_id": "ENSP00000503587.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 145,
"cds_start": null,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5180,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678090.1"
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.184-127T>A",
"hgvs_p": null,
"transcript": "ENST00000378795.9",
"protein_id": "ENSP00000368072.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 125,
"cds_start": null,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1429,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378795.9"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.184-127T>A",
"hgvs_p": null,
"transcript": "NM_001282420.3",
"protein_id": "NP_001269349.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 116,
"cds_start": null,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5646,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282420.3"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.175-127T>A",
"hgvs_p": null,
"transcript": "NM_001282421.3",
"protein_id": "NP_001269350.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 113,
"cds_start": null,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5637,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282421.3"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.184-127T>A",
"hgvs_p": null,
"transcript": "ENST00000944401.1",
"protein_id": "ENSP00000614460.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 112,
"cds_start": null,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1452,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944401.1"
},
{
"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": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.139-127T>A",
"hgvs_p": null,
"transcript": "NM_001282419.3",
"protein_id": "NP_001269348.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 101,
"cds_start": null,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5451,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282419.3"
},
{
"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": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.139-127T>A",
"hgvs_p": null,
"transcript": "ENST00000611607.4",
"protein_id": "ENSP00000484180.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 101,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 1504,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000611607.4"
},
{
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"canonical": false,
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.139-127T>A",
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"transcript": "ENST00000676516.1",
"protein_id": "ENSP00000503101.1",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000676516.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
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"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.184-127T>A",
"hgvs_p": null,
"transcript": "ENST00000470123.2",
"protein_id": "ENSP00000418633.2",
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"cds_start": null,
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"cdna_start": null,
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"feature": "ENST00000470123.2"
},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 4,
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"gene_symbol": "NDUFA5",
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"hgvs_c": "c.184-3583T>A",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
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"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.67-127T>A",
"hgvs_p": null,
"transcript": "ENST00000897004.1",
"protein_id": "ENSP00000567063.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000897004.1"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.82-127T>A",
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"transcript": "ENST00000944402.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000944402.1"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.67-127T>A",
"hgvs_p": null,
"transcript": "NM_001282422.3",
"protein_id": "NP_001269351.1",
"transcript_support_level": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001282422.3"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.67-127T>A",
"hgvs_p": null,
"transcript": "ENST00000618945.4",
"protein_id": "ENSP00000481232.1",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.22-127T>A",
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"transcript": "ENST00000944403.1",
"protein_id": "ENSP00000614462.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 4,
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"gene_symbol": "NDUFA5",
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"hgvs_c": "c.13-127T>A",
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"transcript": "ENST00000676614.1",
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"mane_select": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 2,
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"gene_symbol": "NDUFA5",
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"hgvs_c": "c.13-127T>A",
"hgvs_p": null,
"transcript": "ENST00000676730.1",
"protein_id": "ENSP00000504122.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000676730.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.13-127T>A",
"hgvs_p": null,
"transcript": "ENST00000677251.1",
"protein_id": "ENSP00000504636.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 59,
"cds_start": null,
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"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677251.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
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