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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: 12-46196581-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=46196581&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SLC38A1",
"hgnc_id": 13447,
"hgvs_c": "c.1363-305C>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001278390.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 11447,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.78,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7799999713897705,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 487,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8097,
"cdna_start": null,
"cds_end": null,
"cds_length": 1464,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_030674.4",
"gene_hgnc_id": 13447,
"gene_symbol": "SLC38A1",
"hgvs_c": "c.1362+1139C>T",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000398637.10",
"protein_coding": true,
"protein_id": "NP_109599.3",
"strand": false,
"transcript": "NM_030674.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 487,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8097,
"cdna_start": null,
"cds_end": null,
"cds_length": 1464,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000398637.10",
"gene_hgnc_id": 13447,
"gene_symbol": "SLC38A1",
"hgvs_c": "c.1362+1139C>T",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_030674.4",
"protein_coding": true,
"protein_id": "ENSP00000381634.4",
"strand": false,
"transcript": "ENST00000398637.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 503,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2599,
"cdna_start": null,
"cds_end": null,
"cds_length": 1512,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000552197.5",
"gene_hgnc_id": 13447,
"gene_symbol": "SLC38A1",
"hgvs_c": "c.1363-305C>T",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000449756.1",
"strand": false,
"transcript": "ENST00000552197.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 487,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3436,
"cdna_start": null,
"cds_end": null,
"cds_length": 1464,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000439706.5",
"gene_hgnc_id": 13447,
"gene_symbol": "SLC38A1",
"hgvs_c": "c.1362+1139C>T",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398142.1",
"strand": false,
"transcript": "ENST00000439706.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 487,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2332,
"cdna_start": null,
"cds_end": null,
"cds_length": 1464,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000546893.5",
"gene_hgnc_id": 13447,
"gene_symbol": "SLC38A1",
"hgvs_c": "c.1362+1139C>T",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447853.1",
"strand": false,
"transcript": "ENST00000546893.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 487,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3196,
"cdna_start": null,
"cds_end": null,
"cds_length": 1464,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000549049.5",
"gene_hgnc_id": 13447,
"gene_symbol": "SLC38A1",
"hgvs_c": "c.1362+1139C>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000449607.1",
"strand": false,
"transcript": "ENST00000549049.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 478,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5679,
"cdna_start": null,
"cds_end": null,
"cds_length": 1437,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_011538786.3",
"gene_hgnc_id": 13447,
"gene_symbol": "SLC38A1",
"hgvs_c": "c.*282C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011537088.1",
"strand": false,
"transcript": "XM_011538786.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 478,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6018,
"cdna_start": null,
"cds_end": null,
"cds_length": 1437,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047429599.1",
"gene_hgnc_id": 13447,
"gene_symbol": "SLC38A1",
"hgvs_c": "c.*282C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285555.1",
"strand": false,
"transcript": "XM_047429599.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 478,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6141,
"cdna_start": null,
"cds_end": null,
"cds_length": 1437,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047429600.1",
"gene_hgnc_id": 13447,
"gene_symbol": "SLC38A1",
"hgvs_c": "c.*282C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285556.1",
"strand": false,
"transcript": "XM_047429600.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 478,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6219,
"cdna_start": null,
"cds_end": null,
"cds_length": 1437,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047429601.1",
"gene_hgnc_id": 13447,
"gene_symbol": "SLC38A1",
"hgvs_c": "c.*282C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285557.1",
"strand": false,
"transcript": "XM_047429601.1",
"transcript_support_level": null
},
{
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"aa_length": 478,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5802,
"cdna_start": null,
"cds_end": null,
"cds_length": 1437,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047429602.1",
"gene_hgnc_id": 13447,
"gene_symbol": "SLC38A1",
"hgvs_c": "c.*282C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285558.1",
"strand": false,
"transcript": "XM_047429602.1",
"transcript_support_level": null
},
{
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"aa_length": 478,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5880,
"cdna_start": null,
"cds_end": null,
"cds_length": 1437,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047429603.1",
"gene_hgnc_id": 13447,
"gene_symbol": "SLC38A1",
"hgvs_c": "c.*282C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285559.1",
"strand": false,
"transcript": "XM_047429603.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5658,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047429604.1",
"gene_hgnc_id": 13447,
"gene_symbol": "SLC38A1",
"hgvs_c": "c.*282C>T",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285560.1",
"strand": false,
"transcript": "XM_047429604.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5696,
"cdna_start": null,
"cds_end": null,
"cds_length": 1437,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047429605.1",
"gene_hgnc_id": 13447,
"gene_symbol": "SLC38A1",
"hgvs_c": "c.*282C>T",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285561.1",
"strand": false,
"transcript": "XM_047429605.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5573,
"cdna_start": null,
"cds_end": null,
"cds_length": 1437,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047429606.1",
"gene_hgnc_id": 13447,
"gene_symbol": "SLC38A1",
"hgvs_c": "c.*282C>T",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285562.1",
"strand": false,
"transcript": "XM_047429606.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5571,
"cdna_start": null,
"cds_end": null,
"cds_length": 1437,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047429607.1",
"gene_hgnc_id": 13447,
"gene_symbol": "SLC38A1",
"hgvs_c": "c.*282C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285563.1",
"strand": false,
"transcript": "XM_047429607.1",
"transcript_support_level": null
},
{
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"aa_length": 456,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5613,
"cdna_start": null,
"cds_end": null,
"cds_length": 1371,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_011538787.3",
"gene_hgnc_id": 13447,
"gene_symbol": "SLC38A1",
"hgvs_c": "c.*282C>T",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011537089.1",
"strand": false,
"transcript": "XM_011538787.3",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 5952,
"cdna_start": null,
"cds_end": null,
"cds_length": 1371,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_017019990.2",
"gene_hgnc_id": 13447,
"gene_symbol": "SLC38A1",
"hgvs_c": "c.*282C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_016875479.1",
"strand": false,
"transcript": "XM_017019990.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6075,
"cdna_start": null,
"cds_end": null,
"cds_length": 1371,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047429608.1",
"gene_hgnc_id": 13447,
"gene_symbol": "SLC38A1",
"hgvs_c": "c.*282C>T",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047285564.1",
"strand": false,
"transcript": "XM_047429608.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5736,
"cdna_start": null,
"cds_end": null,
"cds_length": 1371,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047429609.1",
"gene_hgnc_id": 13447,
"gene_symbol": "SLC38A1",
"hgvs_c": "c.*282C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285565.1",
"strand": false,
"transcript": "XM_047429609.1",
"transcript_support_level": null
},
{
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"aa_length": 456,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6153,
"cdna_start": null,
"cds_end": null,
"cds_length": 1371,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047429610.1",
"gene_hgnc_id": 13447,
"gene_symbol": "SLC38A1",
"hgvs_c": "c.*282C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285566.1",
"strand": false,
"transcript": "XM_047429610.1",
"transcript_support_level": null
},
{
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