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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: 1-112956191-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=112956191&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 112956191,
"ref": "A",
"alt": "G",
"effect": "5_prime_UTR_variant",
"transcript": "ENST00000369626.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A1",
"gene_hgnc_id": 10922,
"hgvs_c": "c.-201T>C",
"hgvs_p": null,
"transcript": "NM_003051.4",
"protein_id": "NP_003042.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 500,
"cds_start": -4,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3753,
"mane_select": "ENST00000369626.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A1",
"gene_hgnc_id": 10922,
"hgvs_c": "c.-201T>C",
"hgvs_p": null,
"transcript": "ENST00000369626.8",
"protein_id": "ENSP00000358640.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 500,
"cds_start": -4,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3753,
"mane_select": "NM_003051.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A1",
"gene_hgnc_id": 10922,
"hgvs_c": "c.-960T>C",
"hgvs_p": null,
"transcript": "NM_001166496.2",
"protein_id": "NP_001159968.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 500,
"cds_start": -4,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A1",
"gene_hgnc_id": 10922,
"hgvs_c": "c.-304T>C",
"hgvs_p": null,
"transcript": "ENST00000458229.6",
"protein_id": "ENSP00000416167.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 500,
"cds_start": -4,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3849,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC16A1",
"gene_hgnc_id": 10922,
"hgvs_c": "c.-45+648T>C",
"hgvs_p": null,
"transcript": "ENST00000429288.2",
"protein_id": "ENSP00000397106.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 500,
"cds_start": -4,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3757,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC16A1",
"gene_hgnc_id": 10922,
"hgvs_c": "c.-45+1347T>C",
"hgvs_p": null,
"transcript": "ENST00000679803.1",
"protein_id": "ENSP00000505879.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 500,
"cds_start": -4,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC16A1-AS1",
"gene_hgnc_id": 49445,
"hgvs_c": "n.563-4286A>G",
"hgvs_p": null,
"transcript": "ENST00000413231.6",
"protein_id": null,
"transcript_support_level": 2,
"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": 1345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC16A1-AS1",
"gene_hgnc_id": 49445,
"hgvs_c": "n.531-4286A>G",
"hgvs_p": null,
"transcript": "ENST00000715665.1",
"protein_id": null,
"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": 955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC16A1-AS1",
"gene_hgnc_id": 49445,
"hgvs_c": "n.193-4286A>G",
"hgvs_p": null,
"transcript": "ENST00000764794.1",
"protein_id": null,
"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": 869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A1-AS1",
"gene_hgnc_id": 49445,
"hgvs_c": "n.-213A>G",
"hgvs_p": null,
"transcript": "ENST00000416193.7",
"protein_id": null,
"transcript_support_level": 1,
"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": 758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A1-AS1",
"gene_hgnc_id": 49445,
"hgvs_c": "n.-224A>G",
"hgvs_p": null,
"transcript": "ENST00000428411.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 8803,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A1",
"gene_hgnc_id": 10922,
"hgvs_c": "n.-10T>C",
"hgvs_p": null,
"transcript": "ENST00000478835.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
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"aa_length": null,
"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": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "SLC16A1",
"gene_hgnc_id": 10922,
"hgvs_c": "c.-960T>C",
"hgvs_p": null,
"transcript": "ENST00000538576.5",
"protein_id": "ENSP00000441065.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 500,
"cds_start": -4,
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"biotype": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "SLC16A1-AS1",
"gene_hgnc_id": 49445,
"hgvs_c": "n.-219A>G",
"hgvs_p": null,
"transcript": "ENST00000435800.7",
"protein_id": null,
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},
{
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"strand": true,
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],
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "SLC16A1-AS1",
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"hgvs_c": "n.-206A>G",
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"transcript": "ENST00000654334.2",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "SLC16A1-AS1",
"gene_hgnc_id": 49445,
"hgvs_c": "n.-242A>G",
"hgvs_p": null,
"transcript": "ENST00000662044.2",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "SLC16A1-AS1",
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"hgvs_c": "n.-224A>G",
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"transcript": "ENST00000664314.2",
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},
{
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"protein_coding": false,
"strand": true,
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "SLC16A1",
"gene_hgnc_id": 10922,
"hgvs_c": "n.-197T>C",
"hgvs_p": null,
"transcript": "ENST00000679846.1",
"protein_id": null,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "SLC16A1-AS1",
"gene_hgnc_id": 49445,
"hgvs_c": "n.-241A>G",
"hgvs_p": null,
"transcript": "ENST00000764804.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": null,
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},
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": null,
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"gene_symbol": "SLC16A1-AS1",
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"hgvs_c": "n.-192A>G",
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},
{
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"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"intron_rank": null,
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"gene_symbol": "SLC16A1-AS1",
"gene_hgnc_id": 49445,
"hgvs_c": "n.-202A>G",
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"transcript": "ENST00000764808.1",
"protein_id": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A1-AS1",
"gene_hgnc_id": 49445,
"hgvs_c": "n.-214A>G",
"hgvs_p": null,
"transcript": "ENST00000764809.1",
"protein_id": null,
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"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
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},
{
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"protein_coding": false,
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},
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{
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}
],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000369626.8",
"gene_symbol": "SLC16A1",
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"effects": [
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"inheritance_mode": "AD,AR,Unknown,SD",
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},
{
"score": -2,
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"criteria": [
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"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000413231.6",
"gene_symbol": "SLC16A1-AS1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.563-4286A>G",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}