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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: 9-127502846-C-CCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=127502846&ref=C&alt=CCG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 127502846,
"ref": "C",
"alt": "CCG",
"effect": "frameshift_variant",
"transcript": "ENST00000300417.11",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.2121_2122dupGC",
"hgvs_p": "p.Leu708fs",
"transcript": "NM_001005373.4",
"protein_id": "NP_001005373.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 723,
"cds_start": 2123,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2471,
"cdna_end": null,
"cdna_length": 3120,
"mane_select": "ENST00000300417.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.2121_2122dupGC",
"hgvs_p": "p.Leu708fs",
"transcript": "ENST00000300417.11",
"protein_id": "ENSP00000300417.6",
"transcript_support_level": 1,
"aa_start": 708,
"aa_end": null,
"aa_length": 723,
"cds_start": 2123,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2471,
"cdna_end": null,
"cdna_length": 3120,
"mane_select": "NM_001005373.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.2121_2122dupGC",
"hgvs_p": "p.Leu708fs",
"transcript": "ENST00000373322.1",
"protein_id": "ENSP00000362419.1",
"transcript_support_level": 1,
"aa_start": 708,
"aa_end": null,
"aa_length": 723,
"cds_start": 2123,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2200,
"cdna_end": null,
"cdna_length": 2849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.2202_2203dupGC",
"hgvs_p": "p.Leu735fs",
"transcript": "ENST00000676170.1",
"protein_id": "ENSP00000502177.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 750,
"cds_start": 2204,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 2552,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.2121_2122dupGC",
"hgvs_p": "p.Leu708fs",
"transcript": "NM_001005374.4",
"protein_id": "NP_001005374.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 723,
"cds_start": 2123,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2200,
"cdna_end": null,
"cdna_length": 2849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.2121_2122dupGC",
"hgvs_p": "p.Leu708fs",
"transcript": "NM_001384142.1",
"protein_id": "NP_001371071.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 723,
"cds_start": 2123,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 3488,
"cdna_end": null,
"cdna_length": 4137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.2121_2122dupGC",
"hgvs_p": "p.Leu708fs",
"transcript": "NM_138361.5",
"protein_id": "NP_612370.3",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 723,
"cds_start": 2123,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2754,
"cdna_end": null,
"cdna_length": 3405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.2121_2122dupGC",
"hgvs_p": "p.Leu708fs",
"transcript": "ENST00000323301.8",
"protein_id": "ENSP00000322937.4",
"transcript_support_level": 2,
"aa_start": 708,
"aa_end": null,
"aa_length": 723,
"cds_start": 2123,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2727,
"cdna_end": null,
"cdna_length": 3376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.2121_2122dupGC",
"hgvs_p": "p.Leu708fs",
"transcript": "ENST00000675448.1",
"protein_id": "ENSP00000502167.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 723,
"cds_start": 2123,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2460,
"cdna_end": null,
"cdna_length": 3096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.2076_2077dupGC",
"hgvs_p": "p.Leu693fs",
"transcript": "ENST00000675213.1",
"protein_id": "ENSP00000502218.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 708,
"cds_start": 2078,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 2264,
"cdna_end": null,
"cdna_length": 2913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.2064_2065dupGC",
"hgvs_p": "p.Leu689fs",
"transcript": "ENST00000676014.1",
"protein_id": "ENSP00000502058.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 704,
"cds_start": 2066,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 2298,
"cdna_end": null,
"cdna_length": 2934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.2040_2041dupGC",
"hgvs_p": "p.Leu681fs",
"transcript": "NM_001190723.3",
"protein_id": "NP_001177652.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 696,
"cds_start": 2042,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 2390,
"cdna_end": null,
"cdna_length": 3039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.2040_2041dupGC",
"hgvs_p": "p.Leu681fs",
"transcript": "ENST00000373324.8",
"protein_id": "ENSP00000362421.4",
"transcript_support_level": 2,
"aa_start": 681,
"aa_end": null,
"aa_length": 696,
"cds_start": 2042,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 2395,
"cdna_end": null,
"cdna_length": 3044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.2040_2041dupGC",
"hgvs_p": "p.Leu681fs",
"transcript": "ENST00000675883.1",
"protein_id": "ENSP00000501592.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 696,
"cds_start": 2042,
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"cdna_start": 2537,
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"cdna_length": 3180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.2022_2023dupGC",
"hgvs_p": "p.Leu675fs",
"transcript": "NM_001384143.1",
"protein_id": "NP_001371072.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 690,
"cds_start": 2024,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 2372,
"cdna_end": null,
"cdna_length": 3021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.2022_2023dupGC",
"hgvs_p": "p.Leu675fs",
"transcript": "ENST00000675141.1",
"protein_id": "ENSP00000502420.1",
"transcript_support_level": null,
"aa_start": 675,
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"aa_length": 690,
"cds_start": 2024,
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"cdna_start": 2626,
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"cdna_length": 3261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.2022_2023dupGC",
"hgvs_p": "p.Leu675fs",
"transcript": "ENST00000675572.1",
"protein_id": "ENSP00000501598.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 690,
"cds_start": 2024,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 2377,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1941_1942dupGC",
"hgvs_p": "p.Leu648fs",
"transcript": "ENST00000675789.1",
"protein_id": "ENSP00000501954.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 663,
"cds_start": 1943,
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"cds_length": 1992,
"cdna_start": 2291,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1332_1333dupGC",
"hgvs_p": "p.Leu445fs",
"transcript": "NM_001384144.1",
"protein_id": "NP_001371073.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 460,
"cds_start": 1334,
"cds_end": null,
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"cdna_start": 2466,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.2022_2023dupGC",
"hgvs_p": "p.Leu675fs",
"transcript": "XM_047424058.1",
"protein_id": "XP_047280014.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 690,
"cds_start": 2024,
"cds_end": null,
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"cdna_start": 3389,
"cdna_end": null,
"cdna_length": 4040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1332_1333dupGC",
"hgvs_p": "p.Leu445fs",
"transcript": "XM_047424059.1",
"protein_id": "XP_047280015.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 460,
"cds_start": 1334,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1541,
"cdna_end": null,
"cdna_length": 2192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "n.2786_2787dupGC",
"hgvs_p": null,
"transcript": "ENST00000483302.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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{
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"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
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],
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Charcot-Marie-Tooth disease axonal type 2P",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}