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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: 15-76471313-CATTG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=76471313&ref=CATTG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 76471313,
"ref": "CATTG",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000563290.6",
"consequences": [
{
"aa_ref": "IN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.2973_2976delCAAT",
"hgvs_p": "p.Ile991fs",
"transcript": "NM_020843.4",
"protein_id": "NP_065894.2",
"transcript_support_level": null,
"aa_start": 991,
"aa_end": null,
"aa_length": 1400,
"cds_start": 2973,
"cds_end": null,
"cds_length": 4203,
"cdna_start": 3077,
"cdna_end": null,
"cdna_length": 5033,
"mane_select": "ENST00000563290.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IN",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.2973_2976delCAAT",
"hgvs_p": "p.Ile991fs",
"transcript": "ENST00000563290.6",
"protein_id": "ENSP00000454973.1",
"transcript_support_level": 5,
"aa_start": 991,
"aa_end": null,
"aa_length": 1400,
"cds_start": 2973,
"cds_end": null,
"cds_length": 4203,
"cdna_start": 3077,
"cdna_end": null,
"cdna_length": 5033,
"mane_select": "NM_020843.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.2973_2976delCAAT",
"hgvs_p": "p.Ile991fs",
"transcript": "ENST00000324767.11",
"protein_id": "ENSP00000326924.7",
"transcript_support_level": 1,
"aa_start": 991,
"aa_end": null,
"aa_length": 1400,
"cds_start": 2973,
"cds_end": null,
"cds_length": 4203,
"cdna_start": 3035,
"cdna_end": null,
"cdna_length": 4707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.2235_2238delCAAT",
"hgvs_p": "p.Ile745fs",
"transcript": "ENST00000538941.6",
"protein_id": "ENSP00000442190.2",
"transcript_support_level": 1,
"aa_start": 745,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2235,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 3178,
"cdna_end": null,
"cdna_length": 4853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.2991_2994delCAAT",
"hgvs_p": "p.Ile997fs",
"transcript": "NM_001353009.2",
"protein_id": "NP_001339938.1",
"transcript_support_level": null,
"aa_start": 997,
"aa_end": null,
"aa_length": 1406,
"cds_start": 2991,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 3273,
"cdna_end": null,
"cdna_length": 5229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.2589_2592delCAAT",
"hgvs_p": "p.Ile863fs",
"transcript": "NM_001353011.2",
"protein_id": "NP_001339940.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1272,
"cds_start": 2589,
"cds_end": null,
"cds_length": 3819,
"cdna_start": 3213,
"cdna_end": null,
"cdna_length": 5169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.2571_2574delCAAT",
"hgvs_p": "p.Ile857fs",
"transcript": "NM_001353010.2",
"protein_id": "NP_001339939.1",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 1266,
"cds_start": 2571,
"cds_end": null,
"cds_length": 3801,
"cdna_start": 3238,
"cdna_end": null,
"cdna_length": 5194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.2571_2574delCAAT",
"hgvs_p": "p.Ile857fs",
"transcript": "NM_001353012.2",
"protein_id": "NP_001339941.1",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 1266,
"cds_start": 2571,
"cds_end": null,
"cds_length": 3801,
"cdna_start": 3165,
"cdna_end": null,
"cdna_length": 5121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.2235_2238delCAAT",
"hgvs_p": "p.Ile745fs",
"transcript": "NM_001145923.2",
"protein_id": "NP_001139395.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2235,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 3178,
"cdna_end": null,
"cdna_length": 5134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3066_3069delCAAT",
"hgvs_p": "p.Ile1022fs",
"transcript": "XM_047432620.1",
"protein_id": "XP_047288576.1",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1431,
"cds_start": 3066,
"cds_end": null,
"cds_length": 4296,
"cdna_start": 3155,
"cdna_end": null,
"cdna_length": 5111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3048_3051delCAAT",
"hgvs_p": "p.Ile1016fs",
"transcript": "XM_047432621.1",
"protein_id": "XP_047288577.1",
"transcript_support_level": null,
"aa_start": 1016,
"aa_end": null,
"aa_length": 1425,
"cds_start": 3048,
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"cds_length": 4278,
"cdna_start": 3137,
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"cdna_length": 5093,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
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"exon_count": 31,
"intron_rank": null,
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"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.2943_2946delCAAT",
"hgvs_p": "p.Ile981fs",
"transcript": "XM_047432622.1",
"protein_id": "XP_047288578.1",
"transcript_support_level": null,
"aa_start": 981,
"aa_end": null,
"aa_length": 1390,
"cds_start": 2943,
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"cds_length": 4173,
"cdna_start": 3083,
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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": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.2925_2928delCAAT",
"hgvs_p": "p.Ile975fs",
"transcript": "XM_047432623.1",
"protein_id": "XP_047288579.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 1384,
"cds_start": 2925,
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"cdna_start": 3065,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
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],
"exon_rank": 25,
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"exon_count": 31,
"intron_rank": null,
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"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3066_3069delCAAT",
"hgvs_p": "p.Ile1022fs",
"transcript": "XM_047432624.1",
"protein_id": "XP_047288580.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3048_3051delCAAT",
"hgvs_p": "p.Ile1016fs",
"transcript": "XM_047432625.1",
"protein_id": "XP_047288581.1",
"transcript_support_level": null,
"aa_start": 1016,
"aa_end": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
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"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.2973_2976delCAAT",
"hgvs_p": "p.Ile991fs",
"transcript": "XM_047432626.1",
"protein_id": "XP_047288582.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.2589_2592delCAAT",
"hgvs_p": "p.Ile863fs",
"transcript": "XM_011521653.4",
"protein_id": "XP_011519955.1",
"transcript_support_level": null,
"aa_start": 863,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.2571_2574delCAAT",
"hgvs_p": "p.Ile857fs",
"transcript": "XM_017022273.2",
"protein_id": "XP_016877762.1",
"transcript_support_level": null,
"aa_start": 857,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
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"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.2253_2256delCAAT",
"hgvs_p": "p.Ile751fs",
"transcript": "XM_047432627.1",
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},
{
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"consequences": [
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],
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"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3066_3069delCAAT",
"hgvs_p": "p.Ile1022fs",
"transcript": "XM_024449940.2",
"protein_id": "XP_024305708.2",
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},
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"strand": false,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3066_3069delCAAT",
"hgvs_p": "p.Ile1022fs",
"transcript": "XM_024449941.2",
"protein_id": "XP_024305709.2",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": 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": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3066_3069delCAAT",
"hgvs_p": "p.Ile1022fs",
"transcript": "XM_024449942.2",
"protein_id": "XP_024305710.2",
"transcript_support_level": null,
"aa_start": 1022,
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"aa_length": 1065,
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"cdna_start": 3155,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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"phylop100way_score": 2.498,
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{
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"benign_score": 0,
"pathogenic_score": 12,
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"PP5_Moderate"
],
"verdict": "Pathogenic",
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"gene_symbol": "SCAPER",
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],
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],
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Attention deficit hyperactivity disorder;Intellectual disability, moderate;Rod-cone dystrophy|Intellectual developmental disorder and retinitis pigmentosa; IDDRP",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}