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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: 9-89421512-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=89421512&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 89421512,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000422704.7",
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.-243-15813T>A",
"hgvs_p": null,
"transcript": "NM_001371194.2",
"protein_id": "NP_001358123.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 862,
"cds_start": -4,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4562,
"mane_select": "ENST00000422704.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.-243-15813T>A",
"hgvs_p": null,
"transcript": "ENST00000422704.7",
"protein_id": "ENSP00000388768.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 862,
"cds_start": -4,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4562,
"mane_select": "NM_001371194.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.-381-3075T>A",
"hgvs_p": null,
"transcript": "ENST00000438547.6",
"protein_id": "ENSP00000405102.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 862,
"cds_start": -4,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.-306-3394T>A",
"hgvs_p": null,
"transcript": "NM_001371195.1",
"protein_id": "NP_001358124.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 862,
"cds_start": -4,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.-381-3075T>A",
"hgvs_p": null,
"transcript": "NM_001371196.1",
"protein_id": "NP_001358125.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 862,
"cds_start": -4,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.-306-3394T>A",
"hgvs_p": null,
"transcript": "NM_001371197.1",
"protein_id": "NP_001358126.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 862,
"cds_start": -4,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.-381-3075T>A",
"hgvs_p": null,
"transcript": "NM_006378.4",
"protein_id": "NP_006369.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 862,
"cds_start": -4,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.-381-3075T>A",
"hgvs_p": null,
"transcript": "ENST00000356444.6",
"protein_id": "ENSP00000348822.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 862,
"cds_start": -4,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.-381-3075T>A",
"hgvs_p": null,
"transcript": "NM_001142287.2",
"protein_id": "NP_001135759.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 738,
"cds_start": -4,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
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"cdna_length": 4598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 2,
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"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.-243-15813T>A",
"hgvs_p": null,
"transcript": "NM_001371198.1",
"protein_id": "NP_001358127.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 738,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 2,
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"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.-306-3394T>A",
"hgvs_p": null,
"transcript": "NM_001371199.1",
"protein_id": "NP_001358128.1",
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},
{
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],
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"gene_symbol": "SEMA4D",
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"transcript": "NM_001371200.1",
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},
{
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],
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"gene_symbol": "SEMA4D",
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"hgvs_c": "c.-243-15813T>A",
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},
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],
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"gene_symbol": "SEMA4D",
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"hgvs_c": "c.-306-3394T>A",
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},
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],
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"transcript": "ENST00000420987.5",
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},
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],
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"gene_symbol": "SEMA4D",
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],
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"gene_symbol": "SEMA4D",
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"transcript": "NM_001371202.1",
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},
{
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],
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"gene_symbol": "SEMA4D",
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"hgvs_c": "c.-306-3394T>A",
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"transcript": "ENST00000420681.6",
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},
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],
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"hgvs_c": "c.-243-15813T>A",
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},
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],
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},
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],
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},
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"strand": false,
"consequences": [
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],
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"intron_rank": 2,
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"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "n.-306-3394T>A",
"hgvs_p": null,
"transcript": "ENST00000429836.5",
"protein_id": "ENSP00000395222.1",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "n.258-3075T>A",
"hgvs_p": null,
"transcript": "ENST00000482128.1",
"protein_id": null,
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"verdict": "Likely_benign",
"transcript": "ENST00000422704.7",
"gene_symbol": "SEMA4D",
"hgnc_id": 10732,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-243-15813T>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}