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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: 9-109098517-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=109098517&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 109098517,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_032012.4",
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM245",
"gene_hgnc_id": 1363,
"hgvs_c": "c.800-4926G>A",
"hgvs_p": null,
"transcript": "NM_032012.4",
"protein_id": "NP_114401.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 879,
"cds_start": null,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374586.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032012.4"
},
{
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM245",
"gene_hgnc_id": 1363,
"hgvs_c": "c.800-4926G>A",
"hgvs_p": null,
"transcript": "ENST00000374586.8",
"protein_id": "ENSP00000363714.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 879,
"cds_start": null,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032012.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374586.8"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM245",
"gene_hgnc_id": 1363,
"hgvs_c": "c.800-4926G>A",
"hgvs_p": null,
"transcript": "NM_001438164.1",
"protein_id": "NP_001425093.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 878,
"cds_start": null,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438164.1"
},
{
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM245",
"gene_hgnc_id": 1363,
"hgvs_c": "c.800-4926G>A",
"hgvs_p": null,
"transcript": "ENST00000894214.1",
"protein_id": "ENSP00000564273.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 878,
"cds_start": null,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894214.1"
},
{
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM245",
"gene_hgnc_id": 1363,
"hgvs_c": "c.800-4926G>A",
"hgvs_p": null,
"transcript": "ENST00000952009.1",
"protein_id": "ENSP00000622068.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 877,
"cds_start": null,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952009.1"
},
{
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM245",
"gene_hgnc_id": 1363,
"hgvs_c": "c.800-4932G>A",
"hgvs_p": null,
"transcript": "ENST00000952016.1",
"protein_id": "ENSP00000622075.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 877,
"cds_start": null,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952016.1"
},
{
"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": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM245",
"gene_hgnc_id": 1363,
"hgvs_c": "c.800-4926G>A",
"hgvs_p": null,
"transcript": "NM_001438005.1",
"protein_id": "NP_001424934.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 871,
"cds_start": null,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438005.1"
},
{
"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": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM245",
"gene_hgnc_id": 1363,
"hgvs_c": "c.800-4926G>A",
"hgvs_p": null,
"transcript": "ENST00000413712.7",
"protein_id": "ENSP00000394798.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 871,
"cds_start": null,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413712.7"
},
{
"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": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM245",
"gene_hgnc_id": 1363,
"hgvs_c": "c.800-4926G>A",
"hgvs_p": null,
"transcript": "NM_001438165.1",
"protein_id": "NP_001425094.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 870,
"cds_start": null,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438165.1"
},
{
"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": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM245",
"gene_hgnc_id": 1363,
"hgvs_c": "c.800-4926G>A",
"hgvs_p": null,
"transcript": "ENST00000894211.1",
"protein_id": "ENSP00000564270.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 870,
"cds_start": null,
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"cds_length": 2613,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894211.1"
},
{
"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": 17,
"intron_rank": 3,
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"gene_symbol": "TMEM245",
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"hgvs_c": "c.800-4926G>A",
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"transcript": "ENST00000932034.1",
"protein_id": "ENSP00000602093.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "TMEM245",
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"transcript": "ENST00000952003.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 3,
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"gene_symbol": "TMEM245",
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"hgvs_c": "c.800-4926G>A",
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"transcript": "ENST00000952022.1",
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},
{
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],
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"gene_symbol": "TMEM245",
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},
{
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "TMEM245",
"gene_hgnc_id": 1363,
"hgvs_c": "c.800-7365G>A",
"hgvs_p": null,
"transcript": "ENST00000952006.1",
"protein_id": "ENSP00000622065.1",
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},
{
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],
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},
{
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],
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"exon_count": 17,
"intron_rank": 3,
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"gene_symbol": "TMEM245",
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"hgvs_c": "c.800-4926G>A",
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"transcript": "ENST00000951997.1",
"protein_id": "ENSP00000622056.1",
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"biotype": "protein_coding",
"feature": "ENST00000951997.1"
},
{
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],
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"exon_count": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM245",
"gene_hgnc_id": 1363,
"hgvs_c": "c.800-7362G>A",
"hgvs_p": null,
"transcript": "NM_001438166.1",
"protein_id": "NP_001425095.1",
"transcript_support_level": null,
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},
{
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],
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"gene_symbol": "TMEM245",
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"hgvs_c": "c.800-7362G>A",
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},
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],
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},
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],
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"hgvs_c": "c.800-4926G>A",
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"transcript": "NM_001438167.1",
"protein_id": "NP_001425096.1",
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"biotype": "protein_coding",
"feature": "NM_001438167.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM245",
"gene_hgnc_id": 1363,
"hgvs_c": "c.800-4926G>A",
"hgvs_p": null,
"transcript": "ENST00000894213.1",
"protein_id": "ENSP00000564272.1",
"transcript_support_level": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894213.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.111,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_032012.4",
"gene_symbol": "TMEM245",
"hgnc_id": 1363,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.800-4926G>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
}