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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: 12-81433313-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=81433313&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 81433313,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000549396.6",
"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": 33,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.645+6659A>G",
"hgvs_p": null,
"transcript": "NM_003625.5",
"protein_id": "NP_003616.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1257,
"cds_start": -4,
"cds_end": null,
"cds_length": 3774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5674,
"mane_select": "ENST00000549396.6",
"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": 33,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.645+6659A>G",
"hgvs_p": null,
"transcript": "ENST00000549396.6",
"protein_id": "ENSP00000450337.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1257,
"cds_start": -4,
"cds_end": null,
"cds_length": 3774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5674,
"mane_select": "NM_003625.5",
"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": 31,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.645+6659A>G",
"hgvs_p": null,
"transcript": "ENST00000548586.5",
"protein_id": "ENSP00000449338.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1251,
"cds_start": -4,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4033,
"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": 31,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.645+6659A>G",
"hgvs_p": null,
"transcript": "ENST00000550584.6",
"protein_id": "ENSP00000449558.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1247,
"cds_start": -4,
"cds_end": null,
"cds_length": 3744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5405,
"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": 30,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.645+6659A>G",
"hgvs_p": null,
"transcript": "ENST00000552948.5",
"protein_id": "ENSP00000447868.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1236,
"cds_start": -4,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3976,
"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": 32,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.645+6659A>G",
"hgvs_p": null,
"transcript": "NM_001220476.2",
"protein_id": "NP_001207405.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1251,
"cds_start": -4,
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"cds_length": 3756,
"cdna_start": null,
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"cdna_length": 5585,
"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": 31,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.645+6659A>G",
"hgvs_p": null,
"transcript": "NM_001220473.3",
"protein_id": "NP_001207402.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1247,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5659,
"mane_select": null,
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"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": 31,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.645+6659A>G",
"hgvs_p": null,
"transcript": "NM_001220475.2",
"protein_id": "NP_001207404.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1236,
"cds_start": -4,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5540,
"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": 31,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.591+6659A>G",
"hgvs_p": null,
"transcript": "NM_001220474.3",
"protein_id": "NP_001207403.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1232,
"cds_start": -4,
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"cds_length": 3699,
"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"gene_symbol": "PPFIA2",
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"hgvs_c": "c.591+6659A>G",
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"transcript": "ENST00000549325.5",
"protein_id": "ENSP00000450298.1",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "PPFIA2",
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"hgvs_c": "c.423+6659A>G",
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"transcript": "NM_001220477.2",
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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": "PPFIA2",
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"hgvs_c": "c.96+6659A>G",
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"transcript": "ENST00000548790.1",
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],
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},
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],
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"transcript": "ENST00000549396.6",
"gene_symbol": "PPFIA2",
"hgnc_id": 9246,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.645+6659A>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000550272.1",
"gene_symbol": "ENSG00000258162",
"hgnc_id": 58195,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.79+15974T>C",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NR_199032.1",
"gene_symbol": "PPFIA2-AS2",
"hgnc_id": 58195,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.235+15974T>C",
"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
}