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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: 18-3451764-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=3451764&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 3451764,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000343820.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.-663C>T",
"hgvs_p": null,
"transcript": "ENST00000330513.10",
"protein_id": "ENSP00000327959.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": -4,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.16+1259C>T",
"hgvs_p": null,
"transcript": "NM_003244.4",
"protein_id": "NP_003235.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 272,
"cds_start": -4,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3175,
"mane_select": "ENST00000343820.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.16+1259C>T",
"hgvs_p": null,
"transcript": "ENST00000343820.10",
"protein_id": "ENSP00000339631.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 272,
"cds_start": -4,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3175,
"mane_select": "NM_003244.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.-52C>T",
"hgvs_p": null,
"transcript": "NM_001374397.1",
"protein_id": "NP_001361326.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": -4,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.-663C>T",
"hgvs_p": null,
"transcript": "NM_170695.5",
"protein_id": "NP_733796.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": -4,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.-56C>T",
"hgvs_p": null,
"transcript": "NM_173210.4",
"protein_id": "NP_775302.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": -4,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.-52C>T",
"hgvs_p": null,
"transcript": "ENST00000345133.9",
"protein_id": "ENSP00000343969.5",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": -4,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.-56C>T",
"hgvs_p": null,
"transcript": "ENST00000551541.5",
"protein_id": "ENSP00000450025.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": -4,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.58+3967C>T",
"hgvs_p": null,
"transcript": "NM_173207.4",
"protein_id": "NP_775299.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": -4,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.58+3967C>T",
"hgvs_p": null,
"transcript": "ENST00000618001.4",
"protein_id": "ENSP00000483499.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": -4,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.25+2108C>T",
"hgvs_p": null,
"transcript": "NM_001278682.2",
"protein_id": "NP_001265611.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.16+1259C>T",
"hgvs_p": null,
"transcript": "NM_001278684.2",
"protein_id": "NP_001265613.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.16+1259C>T",
"hgvs_p": null,
"transcript": "NM_173208.3",
"protein_id": "NP_775300.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 272,
"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.16+1259C>T",
"hgvs_p": null,
"transcript": "ENST00000407501.6",
"protein_id": "ENSP00000384133.2",
"transcript_support_level": 3,
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"cds_start": -4,
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},
{
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"strand": true,
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],
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"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.-44-4590C>T",
"hgvs_p": null,
"transcript": "NM_001278686.3",
"protein_id": "NP_001265615.1",
"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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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.-45+3225C>T",
"hgvs_p": null,
"transcript": "NM_001374396.1",
"protein_id": "NP_001361325.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.-45+1694C>T",
"hgvs_p": null,
"transcript": "NM_173209.3",
"protein_id": "NP_775301.1",
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"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.-44-4590C>T",
"hgvs_p": null,
"transcript": "NM_174886.3",
"protein_id": "NP_777480.1",
"transcript_support_level": null,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.-44-4590C>T",
"hgvs_p": null,
"transcript": "ENST00000401449.5",
"protein_id": "ENSP00000385206.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.-45+1694C>T",
"hgvs_p": null,
"transcript": "ENST00000405385.7",
"protein_id": "ENSP00000384970.2",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
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"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.-44-4590C>T",
"hgvs_p": null,
"transcript": "ENST00000548489.6",
"protein_id": "ENSP00000447747.2",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.-45+2C>T",
"hgvs_p": null,
"transcript": "ENST00000549546.5",
"protein_id": "ENSP00000449580.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 244,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.-45+3167C>T",
"hgvs_p": null,
"transcript": "ENST00000549780.5",
"protein_id": "ENSP00000448121.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 218,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
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{
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.3499999940395355,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.85,
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
"score": -16,
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000343820.10",
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"effects": [
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"inheritance_mode": "AD",
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{
"score": -16,
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000790190.1",
"gene_symbol": "ENSG00000302876",
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}