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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: 11-123058167-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=123058167&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 123058167,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_006597.6",
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.1755+85G>T",
"hgvs_p": null,
"transcript": "NM_006597.6",
"protein_id": "NP_006588.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 646,
"cds_start": null,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000534624.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006597.6"
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.1755+85G>T",
"hgvs_p": null,
"transcript": "ENST00000534624.6",
"protein_id": "ENSP00000432083.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 646,
"cds_start": null,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006597.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534624.6"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.1755+85G>T",
"hgvs_p": null,
"transcript": "ENST00000227378.7",
"protein_id": "ENSP00000227378.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 646,
"cds_start": null,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000227378.7"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.1388-339G>T",
"hgvs_p": null,
"transcript": "ENST00000453788.6",
"protein_id": "ENSP00000404372.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": null,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453788.6"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.528+85G>T",
"hgvs_p": null,
"transcript": "ENST00000524552.5",
"protein_id": "ENSP00000435908.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 222,
"cds_start": null,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524552.5"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.411+85G>T",
"hgvs_p": null,
"transcript": "ENST00000526686.1",
"protein_id": "ENSP00000435019.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 149,
"cds_start": null,
"cds_end": null,
"cds_length": 452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526686.1"
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.1773+85G>T",
"hgvs_p": null,
"transcript": "ENST00000935613.1",
"protein_id": "ENSP00000605672.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 652,
"cds_start": null,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935613.1"
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.1764+85G>T",
"hgvs_p": null,
"transcript": "ENST00000876976.1",
"protein_id": "ENSP00000547035.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 649,
"cds_start": null,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876976.1"
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.1755+85G>T",
"hgvs_p": null,
"transcript": "ENST00000532636.5",
"protein_id": "ENSP00000437125.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 646,
"cds_start": null,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532636.5"
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.1755+85G>T",
"hgvs_p": null,
"transcript": "ENST00000876974.1",
"protein_id": "ENSP00000547033.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 646,
"cds_start": null,
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"cds_length": 1941,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876974.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 8,
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"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.1755+85G>T",
"hgvs_p": null,
"transcript": "ENST00000935611.1",
"protein_id": "ENSP00000605670.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000935611.1"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 9,
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"gene_symbol": "HSPA8",
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"hgvs_c": "c.1755+85G>T",
"hgvs_p": null,
"transcript": "ENST00000935614.1",
"protein_id": "ENSP00000605673.1",
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"aa_start": null,
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"cdna_start": null,
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"feature": "ENST00000935614.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 9,
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"gene_symbol": "HSPA8",
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"hgvs_c": "c.1755+85G>T",
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"transcript": "ENST00000971746.1",
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000971746.1"
},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 8,
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"gene_symbol": "HSPA8",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 8,
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"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.1626+85G>T",
"hgvs_p": null,
"transcript": "ENST00000971745.1",
"protein_id": "ENSP00000641804.1",
"transcript_support_level": null,
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"feature": "ENST00000971745.1"
},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 9,
"intron_rank": 8,
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"gene_symbol": "HSPA8",
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"hgvs_c": "c.1678+162G>T",
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"transcript": "ENST00000935616.1",
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"biotype": "protein_coding",
"feature": "ENST00000935616.1"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.1317+85G>T",
"hgvs_p": null,
"transcript": "ENST00000533540.5",
"protein_id": "ENSP00000437189.1",
"transcript_support_level": 5,
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"feature": "ENST00000533540.5"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.1388-336G>T",
"hgvs_p": null,
"transcript": "ENST00000935612.1",
"protein_id": "ENSP00000605671.1",
"transcript_support_level": null,
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"cds_start": null,
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},
{
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],
"exon_rank": null,
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"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.1388-339G>T",
"hgvs_p": null,
"transcript": "NM_153201.4",
"protein_id": "NP_694881.1",
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"feature": "NM_153201.4"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"gene_symbol": "HSPA8",
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"hgvs_c": "c.1388-339G>T",
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"transcript": "ENST00000876975.1",
"protein_id": "ENSP00000547034.1",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 5,
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"gene_symbol": "HSPA8",
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"hgvs_c": "c.1047+85G>T",
"hgvs_p": null,
"transcript": "ENST00000534319.5",
"protein_id": "ENSP00000433316.1",
"transcript_support_level": 2,
"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534319.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.438+85G>T",
"hgvs_p": null,
"transcript": "ENST00000935615.1",
"protein_id": "ENSP00000605674.1",
"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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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935615.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BP4_Strong"
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"verdict": "Likely_benign",
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{
"score": -2,
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"verdict": "Likely_benign",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"custom_annotations": null
}
],
"message": null
}