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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: 3-129502750-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=129502750&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "IFT122",
"hgnc_id": 13556,
"hgvs_c": "c.2568C>T",
"hgvs_p": "p.Arg856Arg",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_052985.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -21,
"allele_count_reference_population": 2757,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"chr": "3",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Connective tissue disorder,Cranioectodermal dysplasia 1,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.47999998927116394,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1241,
"aa_ref": "R",
"aa_start": 805,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4075,
"cdna_start": 2522,
"cds_end": null,
"cds_length": 3726,
"cds_start": 2415,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_052989.3",
"gene_hgnc_id": 13556,
"gene_symbol": "IFT122",
"hgvs_c": "c.2415C>T",
"hgvs_p": "p.Arg805Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000348417.7",
"protein_coding": true,
"protein_id": "NP_443715.1",
"strand": true,
"transcript": "NM_052989.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1241,
"aa_ref": "R",
"aa_start": 805,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4075,
"cdna_start": 2522,
"cds_end": null,
"cds_length": 3726,
"cds_start": 2415,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000348417.7",
"gene_hgnc_id": 13556,
"gene_symbol": "IFT122",
"hgvs_c": "c.2415C>T",
"hgvs_p": "p.Arg805Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_052989.3",
"protein_coding": true,
"protein_id": "ENSP00000324005.4",
"strand": true,
"transcript": "ENST00000348417.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1292,
"aa_ref": "R",
"aa_start": 856,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4151,
"cdna_start": 2760,
"cds_end": null,
"cds_length": 3879,
"cds_start": 2568,
"consequences": [
"synonymous_variant"
],
"exon_count": 31,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000296266.7",
"gene_hgnc_id": 13556,
"gene_symbol": "IFT122",
"hgvs_c": "c.2568C>T",
"hgvs_p": "p.Arg856Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000296266.3",
"strand": true,
"transcript": "ENST00000296266.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1234,
"aa_ref": "R",
"aa_start": 797,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3824,
"cdna_start": 2510,
"cds_end": null,
"cds_length": 3705,
"cds_start": 2391,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000507564.5",
"gene_hgnc_id": 13556,
"gene_symbol": "IFT122",
"hgvs_c": "c.2391C>T",
"hgvs_p": "p.Arg797Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425536.1",
"strand": true,
"transcript": "ENST00000507564.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1182,
"aa_ref": "R",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3841,
"cdna_start": 2444,
"cds_end": null,
"cds_length": 3549,
"cds_start": 2238,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000347300.6",
"gene_hgnc_id": 13556,
"gene_symbol": "IFT122",
"hgvs_c": "c.2238C>T",
"hgvs_p": "p.Arg746Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000323973.3",
"strand": true,
"transcript": "ENST00000347300.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1131,
"aa_ref": "R",
"aa_start": 694,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3569,
"cdna_start": 2169,
"cds_end": null,
"cds_length": 3396,
"cds_start": 2082,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000349441.6",
"gene_hgnc_id": 13556,
"gene_symbol": "IFT122",
"hgvs_c": "c.2082C>T",
"hgvs_p": "p.Arg694Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000324165.3",
"strand": true,
"transcript": "ENST00000349441.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1292,
"aa_ref": "R",
"aa_start": 856,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4228,
"cdna_start": 2675,
"cds_end": null,
"cds_length": 3879,
"cds_start": 2568,
"consequences": [
"synonymous_variant"
],
"exon_count": 31,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_052985.4",
"gene_hgnc_id": 13556,
"gene_symbol": "IFT122",
"hgvs_c": "c.2568C>T",
"hgvs_p": "p.Arg856Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_443711.2",
"strand": true,
"transcript": "NM_052985.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "R",
"aa_start": 805,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4030,
"cdna_start": 2619,
"cds_end": null,
"cds_length": 3798,
"cds_start": 2415,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000689643.1",
"gene_hgnc_id": 13556,
"gene_symbol": "IFT122",
"hgvs_c": "c.2415C>T",
"hgvs_p": "p.Arg805Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509801.1",
"strand": true,
"transcript": "ENST00000689643.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1242,
"aa_ref": "R",
"aa_start": 805,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4078,
"cdna_start": 2522,
"cds_end": null,
"cds_length": 3729,
"cds_start": 2415,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001410808.1",
"gene_hgnc_id": 13556,
"gene_symbol": "IFT122",
"hgvs_c": "c.2415C>T",
"hgvs_p": "p.Arg805Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397737.1",
"strand": true,
"transcript": "NM_001410808.1",
"transcript_support_level": null
},
{
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"aa_length": 1242,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4178,
"cdna_start": 2619,
"cds_end": null,
"cds_length": 3729,
"cds_start": 2415,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000692242.1",
"gene_hgnc_id": 13556,
"gene_symbol": "IFT122",
"hgvs_c": "c.2415C>T",
"hgvs_p": "p.Arg805Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509878.1",
"strand": true,
"transcript": "ENST00000692242.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4021,
"cdna_start": 2618,
"cds_end": null,
"cds_length": 3726,
"cds_start": 2412,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000875675.1",
"gene_hgnc_id": 13556,
"gene_symbol": "IFT122",
"hgvs_c": "c.2412C>T",
"hgvs_p": "p.Arg804Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545734.1",
"strand": true,
"transcript": "ENST00000875675.1",
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},
{
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"aa_ref": "R",
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"canonical": false,
"cdna_end": null,
"cdna_length": 4054,
"cdna_start": 2498,
"cds_end": null,
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"cds_start": 2391,
"consequences": [
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],
"exon_count": 30,
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"feature": "NM_001280541.2",
"gene_hgnc_id": 13556,
"gene_symbol": "IFT122",
"hgvs_c": "c.2391C>T",
"hgvs_p": "p.Arg797Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001267470.1",
"strand": true,
"transcript": "NM_001280541.2",
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},
{
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"biotype": "protein_coding",
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"cdna_start": 2617,
"cds_end": null,
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"consequences": [
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],
"exon_count": 30,
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"feature": "ENST00000689313.1",
"gene_hgnc_id": 13556,
"gene_symbol": "IFT122",
"hgvs_c": "c.2391C>T",
"hgvs_p": "p.Arg797Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509012.1",
"strand": true,
"transcript": "ENST00000689313.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_length": 3787,
"cdna_start": 2432,
"cds_end": null,
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"consequences": [
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],
"exon_count": 30,
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"feature": "ENST00000957303.1",
"gene_hgnc_id": 13556,
"gene_symbol": "IFT122",
"hgvs_c": "c.2415C>T",
"hgvs_p": "p.Arg805Arg",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000627362.1",
"strand": true,
"transcript": "ENST00000957303.1",
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},
{
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"cdna_start": 2565,
"cds_end": null,
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"consequences": [
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],
"exon_count": 29,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000687377.1",
"gene_hgnc_id": 13556,
"gene_symbol": "IFT122",
"hgvs_c": "c.2361C>T",
"hgvs_p": "p.Arg787Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509225.1",
"strand": true,
"transcript": "ENST00000687377.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 2468,
"cds_end": null,
"cds_length": 3672,
"cds_start": 2361,
"consequences": [
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],
"exon_count": 29,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001410809.1",
"gene_hgnc_id": 13556,
"gene_symbol": "IFT122",
"hgvs_c": "c.2361C>T",
"hgvs_p": "p.Arg787Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001397738.1",
"strand": true,
"transcript": "NM_001410809.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
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"feature": "ENST00000693129.1",
"gene_hgnc_id": 13556,
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"intron_rank": null,
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"protein_coding": true,
"protein_id": "ENSP00000509806.1",
"strand": true,
"transcript": "ENST00000693129.1",
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},
{
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"consequences": [
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],
"exon_count": 30,
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"feature": "ENST00000693489.1",
"gene_hgnc_id": 13556,
"gene_symbol": "IFT122",
"hgvs_c": "c.2352C>T",
"hgvs_p": "p.Arg784Arg",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000509656.1",
"strand": true,
"transcript": "ENST00000693489.1",
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},
{
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"cds_end": null,
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"cds_start": 2238,
"consequences": [
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],
"exon_count": 29,
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"exon_rank_end": null,
"feature": "ENST00000691733.1",
"gene_hgnc_id": 13556,
"gene_symbol": "IFT122",
"hgvs_c": "c.2238C>T",
"hgvs_p": "p.Arg746Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509735.1",
"strand": true,
"transcript": "ENST00000691733.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 1190,
"aa_ref": "R",
"aa_start": 753,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3922,
"cdna_start": 2366,
"cds_end": null,
"cds_length": 3573,
"cds_start": 2259,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001438637.1",
"gene_hgnc_id": 13556,
"gene_symbol": "IFT122",
"hgvs_c": "c.2259C>T",
"hgvs_p": "p.Arg753Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425566.1",
"strand": true,
"transcript": "NM_001438637.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 1190,
"aa_ref": "R",
"aa_start": 728,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4340,
"cdna_start": 2381,
"cds_end": null,
"cds_length": 3573,
"cds_start": 2184,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 18,
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