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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: 3-197047485-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=197047485&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 197047485,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000667157.1",
"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": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2576-2756C>T",
"hgvs_p": null,
"transcript": "NM_001366207.1",
"protein_id": "NP_001353136.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 893,
"cds_start": -4,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4853,
"mane_select": "ENST00000667157.1",
"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": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2576-2756C>T",
"hgvs_p": null,
"transcript": "ENST00000667157.1",
"protein_id": "ENSP00000499414.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 893,
"cds_start": -4,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4853,
"mane_select": "NM_001366207.1",
"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": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2675-2756C>T",
"hgvs_p": null,
"transcript": "ENST00000346964.6",
"protein_id": "ENSP00000345731.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 926,
"cds_start": -4,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5034,
"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": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2609-2756C>T",
"hgvs_p": null,
"transcript": "ENST00000419354.5",
"protein_id": "ENSP00000407531.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 904,
"cds_start": -4,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3994,
"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": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2609-2756C>T",
"hgvs_p": null,
"transcript": "ENST00000448528.6",
"protein_id": "ENSP00000391732.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 904,
"cds_start": -4,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2977,
"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": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2576-2756C>T",
"hgvs_p": null,
"transcript": "ENST00000357674.9",
"protein_id": "ENSP00000350303.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 893,
"cds_start": -4,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "n.*3023C>T",
"hgvs_p": null,
"transcript": "ENST00000669714.1",
"protein_id": "ENSP00000499698.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.*3115C>T",
"hgvs_p": null,
"transcript": "ENST00000654733.1",
"protein_id": "ENSP00000499730.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 771,
"cds_start": -4,
"cds_end": null,
"cds_length": 2317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "n.*3023C>T",
"hgvs_p": null,
"transcript": "ENST00000669714.1",
"protein_id": "ENSP00000499698.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5455,
"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": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2675-2756C>T",
"hgvs_p": null,
"transcript": "NM_004087.2",
"protein_id": "NP_004078.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 926,
"cds_start": -4,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5034,
"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": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2672-2756C>T",
"hgvs_p": null,
"transcript": "NM_001366214.1",
"protein_id": "NP_001353143.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 925,
"cds_start": -4,
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"cds_length": 2778,
"cdna_start": null,
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"cdna_length": 5335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2672-2756C>T",
"hgvs_p": null,
"transcript": "ENST00000660898.1",
"protein_id": "ENSP00000499363.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 925,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2609-2756C>T",
"hgvs_p": null,
"transcript": "NM_001098424.1",
"protein_id": "NP_001091894.1",
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"aa_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2609-2756C>T",
"hgvs_p": null,
"transcript": "NM_001290983.2",
"protein_id": "NP_001277912.1",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 25,
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"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2609-2756C>T",
"hgvs_p": null,
"transcript": "NM_001366218.1",
"protein_id": "NP_001353147.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 25,
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"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2609-2756C>T",
"hgvs_p": null,
"transcript": "ENST00000670935.1",
"protein_id": "ENSP00000499437.1",
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},
{
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],
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"exon_count": 25,
"intron_rank": 24,
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"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2576-2756C>T",
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"transcript": "NM_001363865.1",
"protein_id": "NP_001350794.1",
"transcript_support_level": null,
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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": 25,
"intron_rank": 24,
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"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2576-2756C>T",
"hgvs_p": null,
"transcript": "NM_001366210.1",
"protein_id": "NP_001353139.1",
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "DLG1",
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"hgvs_c": "c.2576-2756C>T",
"hgvs_p": null,
"transcript": "NM_001366215.1",
"protein_id": "NP_001353144.1",
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},
{
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],
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"intron_rank": 23,
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"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2576-2756C>T",
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"transcript": "ENST00000450955.5",
"protein_id": "ENSP00000411278.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "DLG1",
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"hgvs_c": "c.2576-2756C>T",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2576-2756C>T",
"hgvs_p": null,
"transcript": "ENST00000670455.1",
"protein_id": "ENSP00000499542.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2573-2756C>T",
"hgvs_p": null,
"transcript": "NM_001204386.1",
"protein_id": "NP_001191315.1",
"transcript_support_level": null,
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.95,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.029,
"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": "ENST00000667157.1",
"gene_symbol": "DLG1",
"hgnc_id": 2900,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.2576-2756C>T",
"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
}