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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: 5-137870288-GACACACACACACAC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=137870288&ref=GACACACACACACAC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 137870288,
"ref": "GACACACACACACAC",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_006790.3",
"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": 1,
"intron_rank_end": null,
"gene_symbol": "MYOT",
"gene_hgnc_id": 12399,
"hgvs_c": "c.-211-127_-211-114delCACACACACACACA",
"hgvs_p": null,
"transcript": "NM_006790.3",
"protein_id": "NP_006781.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 498,
"cds_start": null,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000239926.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006790.3"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "MYOT",
"gene_hgnc_id": 12399,
"hgvs_c": "c.-211-152_-211-139delACACACACACACAC",
"hgvs_p": null,
"transcript": "ENST00000239926.9",
"protein_id": "ENSP00000239926.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 498,
"cds_start": null,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006790.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000239926.9"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "MYOT",
"gene_hgnc_id": 12399,
"hgvs_c": "c.-211-152_-211-139delACACACACACACAC",
"hgvs_p": null,
"transcript": "ENST00000968642.1",
"protein_id": "ENSP00000638701.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 497,
"cds_start": null,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968642.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "MYOT",
"gene_hgnc_id": 12399,
"hgvs_c": "c.-205-127_-205-114delCACACACACACACA",
"hgvs_p": null,
"transcript": "NM_001300911.2",
"protein_id": "NP_001287840.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 383,
"cds_start": null,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300911.2"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "MYOT",
"gene_hgnc_id": 12399,
"hgvs_c": "c.-205-152_-205-139delACACACACACACAC",
"hgvs_p": null,
"transcript": "ENST00000515645.1",
"protein_id": "ENSP00000426281.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 383,
"cds_start": null,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515645.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "MYOT",
"gene_hgnc_id": 12399,
"hgvs_c": "c.-281-127_-281-114delCACACACACACACA",
"hgvs_p": null,
"transcript": "NM_001135940.2",
"protein_id": "NP_001129412.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 314,
"cds_start": null,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135940.2"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "MYOT",
"gene_hgnc_id": 12399,
"hgvs_c": "c.-281-152_-281-139delACACACACACACAC",
"hgvs_p": null,
"transcript": "ENST00000421631.6",
"protein_id": "ENSP00000391185.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 314,
"cds_start": null,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421631.6"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYOT",
"gene_hgnc_id": 12399,
"hgvs_c": "n.95-152_95-139delACACACACACACAC",
"hgvs_p": null,
"transcript": "ENST00000509812.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000509812.5"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYOT",
"gene_hgnc_id": 12399,
"hgvs_c": "n.95-152_95-139delACACACACACACAC",
"hgvs_p": null,
"transcript": "ENST00000511625.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000511625.5"
},
{
"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": "PKD2L2-DT",
"gene_hgnc_id": 55557,
"hgvs_c": "n.371-11039_371-11026delGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000514616.7",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000514616.7"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PKD2L2-DT",
"gene_hgnc_id": 55557,
"hgvs_c": "n.147+10006_147+10019delGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000661977.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000661977.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PKD2L2-DT",
"gene_hgnc_id": 55557,
"hgvs_c": "n.87+10006_87+10019delGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000666934.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000666934.1"
},
{
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"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": "PKD2L2-DT",
"gene_hgnc_id": 55557,
"hgvs_c": "n.318-11039_318-11026delGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000728404.1",
"protein_id": null,
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"cdna_start": null,
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"biotype": "pseudogene",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "PKD2L2-DT",
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"biotype": "pseudogene",
"feature": "ENST00000728405.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PKD2L2-DT",
"gene_hgnc_id": 55557,
"hgvs_c": "n.309-11039_309-11026delGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000728406.1",
"protein_id": null,
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"feature": "ENST00000728406.1"
},
{
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"protein_coding": false,
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],
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"exon_count": 5,
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"gene_symbol": "PKD2L2-DT",
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"hgvs_c": "n.362-11039_362-11026delGTGTGTGTGTGTGT",
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"biotype": "pseudogene",
"feature": "ENST00000728407.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PKD2L2-DT",
"gene_hgnc_id": 55557,
"hgvs_c": "n.303-11039_303-11026delGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000728408.1",
"protein_id": null,
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"biotype": "pseudogene",
"feature": "ENST00000728408.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PKD2L2-DT",
"gene_hgnc_id": 55557,
"hgvs_c": "n.189-11039_189-11026delGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000728409.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "PKD2L2-DT",
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"hgvs_c": "n.187-11039_187-11026delGTGTGTGTGTGTGT",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PKD2L2-DT",
"gene_hgnc_id": 55557,
"hgvs_c": "n.357-11039_357-11026delGTGTGTGTGTGTGT",
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"feature": "ENST00000728411.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PKD2L2-DT",
"gene_hgnc_id": 55557,
"hgvs_c": "n.320-11039_320-11026delGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000728412.1",
"protein_id": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000728412.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PKD2L2-DT",
"gene_hgnc_id": 55557,
"hgvs_c": "n.173-11039_173-11026delGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000728413.1",
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000728413.1"
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}