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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: 13-100530111-ACTG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=100530111&ref=ACTG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 100530111,
"ref": "ACTG",
"alt": "A",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_000282.4",
"consequences": [
{
"aa_ref": "HC",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.2133_2135delCTG",
"hgvs_p": "p.Cys712del",
"transcript": "NM_000282.4",
"protein_id": "NP_000273.2",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 728,
"cds_start": 2133,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376285.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000282.4"
},
{
"aa_ref": "HC",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.2133_2135delCTG",
"hgvs_p": "p.Cys712del",
"transcript": "ENST00000376285.6",
"protein_id": "ENSP00000365462.1",
"transcript_support_level": 1,
"aa_start": 711,
"aa_end": null,
"aa_length": 728,
"cds_start": 2133,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000282.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376285.6"
},
{
"aa_ref": "HC",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.2256_2258delCTG",
"hgvs_p": "p.Cys753del",
"transcript": "ENST00000881637.1",
"protein_id": "ENSP00000551696.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 769,
"cds_start": 2256,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881637.1"
},
{
"aa_ref": "HC",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.2238_2240delCTG",
"hgvs_p": "p.Cys747del",
"transcript": "ENST00000881640.1",
"protein_id": "ENSP00000551699.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 763,
"cds_start": 2238,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881640.1"
},
{
"aa_ref": "HC",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.2235_2237delCTG",
"hgvs_p": "p.Cys746del",
"transcript": "ENST00000956821.1",
"protein_id": "ENSP00000626880.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 762,
"cds_start": 2235,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956821.1"
},
{
"aa_ref": "HC",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.2223_2225delCTG",
"hgvs_p": "p.Cys742del",
"transcript": "ENST00000881647.1",
"protein_id": "ENSP00000551706.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 758,
"cds_start": 2223,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881647.1"
},
{
"aa_ref": "HC",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.2208_2210delCTG",
"hgvs_p": "p.Cys737del",
"transcript": "ENST00000881631.1",
"protein_id": "ENSP00000551690.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 753,
"cds_start": 2208,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881631.1"
},
{
"aa_ref": "HC",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.2163_2165delCTG",
"hgvs_p": "p.Cys722del",
"transcript": "ENST00000881644.1",
"protein_id": "ENSP00000551703.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 738,
"cds_start": 2163,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881644.1"
},
{
"aa_ref": "HC",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.2127_2129delCTG",
"hgvs_p": "p.Cys710del",
"transcript": "ENST00000940854.1",
"protein_id": "ENSP00000610913.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 726,
"cds_start": 2127,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940854.1"
},
{
"aa_ref": "HC",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.2121_2123delCTG",
"hgvs_p": "p.Cys708del",
"transcript": "ENST00000881635.1",
"protein_id": "ENSP00000551694.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 724,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881635.1"
},
{
"aa_ref": "HC",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.2079_2081delCTG",
"hgvs_p": "p.Cys694del",
"transcript": "NM_001352605.2",
"protein_id": "NP_001339534.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 710,
"cds_start": 2079,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352605.2"
},
{
"aa_ref": "HC",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.2079_2081delCTG",
"hgvs_p": "p.Cys694del",
"transcript": "ENST00000881625.1",
"protein_id": "ENSP00000551684.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 710,
"cds_start": 2079,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881625.1"
},
{
"aa_ref": "HC",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.2079_2081delCTG",
"hgvs_p": "p.Cys694del",
"transcript": "ENST00000956823.1",
"protein_id": "ENSP00000626882.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 710,
"cds_start": 2079,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956823.1"
},
{
"aa_ref": "HC",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.2064_2066delCTG",
"hgvs_p": "p.Cys689del",
"transcript": "ENST00000956827.1",
"protein_id": "ENSP00000626886.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 705,
"cds_start": 2064,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956827.1"
},
{
"aa_ref": "HC",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.2055_2057delCTG",
"hgvs_p": "p.Cys686del",
"transcript": "NM_001127692.3",
"protein_id": "NP_001121164.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 702,
"cds_start": 2055,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127692.3"
},
{
"aa_ref": "HC",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.2055_2057delCTG",
"hgvs_p": "p.Cys686del",
"transcript": "ENST00000376286.8",
"protein_id": "ENSP00000365463.4",
"transcript_support_level": 2,
"aa_start": 685,
"aa_end": null,
"aa_length": 702,
"cds_start": 2055,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376286.8"
},
{
"aa_ref": "HC",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.2040_2042delCTG",
"hgvs_p": "p.Cys681del",
"transcript": "ENST00000881634.1",
"protein_id": "ENSP00000551693.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 697,
"cds_start": 2040,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881634.1"
},
{
"aa_ref": "HC",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.2034_2036delCTG",
"hgvs_p": "p.Cys679del",
"transcript": "ENST00000881627.1",
"protein_id": "ENSP00000551686.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 695,
"cds_start": 2034,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881627.1"
},
{
"aa_ref": "HC",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.2022_2024delCTG",
"hgvs_p": "p.Cys675del",
"transcript": "ENST00000881645.1",
"protein_id": "ENSP00000551704.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 691,
"cds_start": 2022,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881645.1"
},
{
"aa_ref": "HC",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.2016_2018delCTG",
"hgvs_p": "p.Cys673del",
"transcript": "ENST00000881638.1",
"protein_id": "ENSP00000551697.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 689,
"cds_start": 2016,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881638.1"
},
{
"aa_ref": "HC",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.2016_2018delCTG",
"hgvs_p": "p.Cys673del",
"transcript": "ENST00000956825.1",
"protein_id": "ENSP00000626884.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 689,
"cds_start": 2016,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956825.1"
},
{
"aa_ref": "HC",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
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"hom_count_reference_population": 0,
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"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
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"phylop100way_score": 5.459,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PM4_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000282.4",
"gene_symbol": "PCCA",
"hgnc_id": 8653,
"effects": [
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],
"inheritance_mode": "AR",
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"hgvs_p": "p.Cys712del"
},
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "ENST00000881873.1",
"gene_symbol": "GGACT",
"hgnc_id": 25100,
"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "Propionic acidemia",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Propionic acidemia",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}