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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-G-GACACACACACACACAC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=137870288&ref=G&alt=GACACACACACACACAC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 137870288,
"ref": "G",
"alt": "GACACACACACACACAC",
"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.-211-129_-211-114dupCACACACACACACACA",
"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": 2268,
"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.-211-153_-211-152insACACACACACACACAC",
"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": 2268,
"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.-211-153_-211-152insACACACACACACACAC",
"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": 2263,
"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.-205-129_-205-114dupCACACACACACACACA",
"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": 1917,
"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.-205-153_-205-152insACACACACACACACAC",
"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": 1578,
"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.-281-129_-281-114dupCACACACACACACACA",
"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": 1786,
"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.-281-153_-281-152insACACACACACACACAC",
"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": 1474,
"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.95-153_95-152insACACACACACACACAC",
"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": 563,
"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.95-153_95-152insACACACACACACACAC",
"hgvs_p": null,
"transcript": "ENST00000511625.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 545,
"mane_select": null,
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"biotype": "retained_intron",
"feature": "ENST00000511625.5"
},
{
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"canonical": false,
"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.371-11026_371-11025insGTGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000514616.7",
"protein_id": null,
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"aa_start": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000514616.7"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
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"gene_symbol": "PKD2L2-DT",
"gene_hgnc_id": 55557,
"hgvs_c": "n.147+10019_147+10020insGTGTGTGTGTGTGTGT",
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"transcript": "ENST00000661977.1",
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},
{
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],
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},
{
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],
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"gene_symbol": "PKD2L2-DT",
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},
{
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],
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},
{
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],
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},
{
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],
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},
{
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],
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},
{
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],
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"gene_symbol": "PKD2L2-DT",
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},
{
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],
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},
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],
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},
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],
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},
{
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],
"exon_rank": null,
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"gene_symbol": "PKD2L2-DT",
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