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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: 3-120638490-AC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=120638490&ref=AC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 120638490,
"ref": "AC",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "NM_000187.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGD",
"gene_hgnc_id": 4892,
"hgvs_c": "c.970delG",
"hgvs_p": "p.Val324fs",
"transcript": "NM_000187.4",
"protein_id": "NP_000178.2",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 445,
"cds_start": 970,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000283871.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000187.4"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGD",
"gene_hgnc_id": 4892,
"hgvs_c": "c.970delG",
"hgvs_p": "p.Val324fs",
"transcript": "ENST00000283871.10",
"protein_id": "ENSP00000283871.5",
"transcript_support_level": 1,
"aa_start": 324,
"aa_end": null,
"aa_length": 445,
"cds_start": 970,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000187.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000283871.10"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGD",
"gene_hgnc_id": 4892,
"hgvs_c": "c.1132delG",
"hgvs_p": "p.Val378fs",
"transcript": "ENST00000898838.1",
"protein_id": "ENSP00000568897.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 499,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898838.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGD",
"gene_hgnc_id": 4892,
"hgvs_c": "c.991delG",
"hgvs_p": "p.Val331fs",
"transcript": "ENST00000898833.1",
"protein_id": "ENSP00000568892.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 452,
"cds_start": 991,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898833.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGD",
"gene_hgnc_id": 4892,
"hgvs_c": "c.964delG",
"hgvs_p": "p.Val322fs",
"transcript": "ENST00000898830.1",
"protein_id": "ENSP00000568889.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 443,
"cds_start": 964,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898830.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGD",
"gene_hgnc_id": 4892,
"hgvs_c": "c.958delG",
"hgvs_p": "p.Val320fs",
"transcript": "ENST00000898840.1",
"protein_id": "ENSP00000568899.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 441,
"cds_start": 958,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898840.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGD",
"gene_hgnc_id": 4892,
"hgvs_c": "c.898delG",
"hgvs_p": "p.Val300fs",
"transcript": "ENST00000898835.1",
"protein_id": "ENSP00000568894.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 421,
"cds_start": 898,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898835.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGD",
"gene_hgnc_id": 4892,
"hgvs_c": "c.892delG",
"hgvs_p": "p.Val298fs",
"transcript": "ENST00000898841.1",
"protein_id": "ENSP00000568900.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 419,
"cds_start": 892,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898841.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGD",
"gene_hgnc_id": 4892,
"hgvs_c": "c.892delG",
"hgvs_p": "p.Val298fs",
"transcript": "ENST00000955340.1",
"protein_id": "ENSP00000625399.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 419,
"cds_start": 892,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955340.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGD",
"gene_hgnc_id": 4892,
"hgvs_c": "c.766delG",
"hgvs_p": "p.Val256fs",
"transcript": "ENST00000898842.1",
"protein_id": "ENSP00000568901.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 377,
"cds_start": 766,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898842.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGD",
"gene_hgnc_id": 4892,
"hgvs_c": "c.745delG",
"hgvs_p": "p.Val249fs",
"transcript": "ENST00000898831.1",
"protein_id": "ENSP00000568890.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 370,
"cds_start": 745,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898831.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGD",
"gene_hgnc_id": 4892,
"hgvs_c": "c.739delG",
"hgvs_p": "p.Val247fs",
"transcript": "ENST00000898834.1",
"protein_id": "ENSP00000568893.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 368,
"cds_start": 739,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898834.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGD",
"gene_hgnc_id": 4892,
"hgvs_c": "c.703delG",
"hgvs_p": "p.Val235fs",
"transcript": "ENST00000898844.1",
"protein_id": "ENSP00000568903.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 356,
"cds_start": 703,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898844.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGD",
"gene_hgnc_id": 4892,
"hgvs_c": "c.388delG",
"hgvs_p": "p.Val130fs",
"transcript": "ENST00000494453.1",
"protein_id": "ENSP00000419163.1",
"transcript_support_level": 3,
"aa_start": 130,
"aa_end": null,
"aa_length": 144,
"cds_start": 388,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000494453.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGD",
"gene_hgnc_id": 4892,
"hgvs_c": "c.745delG",
"hgvs_p": "p.Val249fs",
"transcript": "XM_005247412.3",
"protein_id": "XP_005247469.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 370,
"cds_start": 745,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005247412.3"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGD",
"gene_hgnc_id": 4892,
"hgvs_c": "c.970delG",
"hgvs_p": "p.Val324fs",
"transcript": "XM_005247413.3",
"protein_id": "XP_005247470.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 338,
"cds_start": 970,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005247413.3"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGD",
"gene_hgnc_id": 4892,
"hgvs_c": "c.547delG",
"hgvs_p": "p.Val183fs",
"transcript": "XM_017006277.3",
"protein_id": "XP_016861766.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 304,
"cds_start": 547,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006277.3"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGD",
"gene_hgnc_id": 4892,
"hgvs_c": "c.745delG",
"hgvs_p": "p.Val249fs",
"transcript": "XM_047448058.1",
"protein_id": "XP_047304014.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 263,
"cds_start": 745,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448058.1"
},
{
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "HGD",
"gene_hgnc_id": 4892,
"hgvs_c": "c.879+3098delG",
"hgvs_p": null,
"transcript": "ENST00000898832.1",
"protein_id": "ENSP00000568891.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 342,
"cds_start": null,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898832.1"
},
{
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "HGD",
"gene_hgnc_id": 4892,
"hgvs_c": "c.873+3098delG",
"hgvs_p": null,
"transcript": "ENST00000898836.1",
"protein_id": "ENSP00000568895.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": null,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898836.1"
},
{
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "HGD",
"gene_hgnc_id": 4892,
"hgvs_c": "c.650-5163delG",
"hgvs_p": null,
"transcript": "ENST00000898839.1",
"protein_id": "ENSP00000568898.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 326,
"cds_start": null,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898839.1"
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "HGD",
"gene_hgnc_id": 4892,
"hgvs_c": "c.654+3098delG",
"hgvs_p": null,
"transcript": "ENST00000898837.1",
"protein_id": "ENSP00000568896.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 267,
"cds_start": null,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898837.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": null,
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"phylop100way_score": 7.359,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.12,
"spliceai_max_prediction": "Benign",
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"acmg_by_gene": [
{
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"PP5_Moderate"
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"verdict": "Pathogenic",
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"effects": [
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],
"clinvar_disease": "Alkaptonuria",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Alkaptonuria",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}