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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: 9-127497299-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=127497299&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 127497299,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000300417.11",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1877T>G",
"hgvs_p": "p.Val626Gly",
"transcript": "NM_001005373.4",
"protein_id": "NP_001005373.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 723,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2225,
"cdna_end": null,
"cdna_length": 3120,
"mane_select": "ENST00000300417.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1877T>G",
"hgvs_p": "p.Val626Gly",
"transcript": "ENST00000300417.11",
"protein_id": "ENSP00000300417.6",
"transcript_support_level": 1,
"aa_start": 626,
"aa_end": null,
"aa_length": 723,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2225,
"cdna_end": null,
"cdna_length": 3120,
"mane_select": "NM_001005373.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1877T>G",
"hgvs_p": "p.Val626Gly",
"transcript": "ENST00000373322.1",
"protein_id": "ENSP00000362419.1",
"transcript_support_level": 1,
"aa_start": 626,
"aa_end": null,
"aa_length": 723,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 1954,
"cdna_end": null,
"cdna_length": 2849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1958T>G",
"hgvs_p": "p.Val653Gly",
"transcript": "ENST00000676170.1",
"protein_id": "ENSP00000502177.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 750,
"cds_start": 1958,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 2306,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1877T>G",
"hgvs_p": "p.Val626Gly",
"transcript": "NM_001005374.4",
"protein_id": "NP_001005374.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 723,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 1954,
"cdna_end": null,
"cdna_length": 2849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1877T>G",
"hgvs_p": "p.Val626Gly",
"transcript": "NM_001384142.1",
"protein_id": "NP_001371071.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 723,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 3242,
"cdna_end": null,
"cdna_length": 4137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1877T>G",
"hgvs_p": "p.Val626Gly",
"transcript": "NM_138361.5",
"protein_id": "NP_612370.3",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 723,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2508,
"cdna_end": null,
"cdna_length": 3405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1877T>G",
"hgvs_p": "p.Val626Gly",
"transcript": "ENST00000323301.8",
"protein_id": "ENSP00000322937.4",
"transcript_support_level": 2,
"aa_start": 626,
"aa_end": null,
"aa_length": 723,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2481,
"cdna_end": null,
"cdna_length": 3376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1877T>G",
"hgvs_p": "p.Val626Gly",
"transcript": "ENST00000675448.1",
"protein_id": "ENSP00000502167.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 723,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2214,
"cdna_end": null,
"cdna_length": 3096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1832T>G",
"hgvs_p": "p.Val611Gly",
"transcript": "ENST00000675213.1",
"protein_id": "ENSP00000502218.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 708,
"cds_start": 1832,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 2018,
"cdna_end": null,
"cdna_length": 2913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1820T>G",
"hgvs_p": "p.Val607Gly",
"transcript": "ENST00000676014.1",
"protein_id": "ENSP00000502058.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 704,
"cds_start": 1820,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 2052,
"cdna_end": null,
"cdna_length": 2934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1796T>G",
"hgvs_p": "p.Val599Gly",
"transcript": "NM_001190723.3",
"protein_id": "NP_001177652.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 696,
"cds_start": 1796,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 2144,
"cdna_end": null,
"cdna_length": 3039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1796T>G",
"hgvs_p": "p.Val599Gly",
"transcript": "ENST00000373324.8",
"protein_id": "ENSP00000362421.4",
"transcript_support_level": 2,
"aa_start": 599,
"aa_end": null,
"aa_length": 696,
"cds_start": 1796,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 2149,
"cdna_end": null,
"cdna_length": 3044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1796T>G",
"hgvs_p": "p.Val599Gly",
"transcript": "ENST00000675883.1",
"protein_id": "ENSP00000501592.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 696,
"cds_start": 1796,
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"cdna_start": 2291,
"cdna_end": null,
"cdna_length": 3180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1778T>G",
"hgvs_p": "p.Val593Gly",
"transcript": "NM_001384143.1",
"protein_id": "NP_001371072.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 690,
"cds_start": 1778,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 2126,
"cdna_end": null,
"cdna_length": 3021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1778T>G",
"hgvs_p": "p.Val593Gly",
"transcript": "ENST00000675141.1",
"protein_id": "ENSP00000502420.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 690,
"cds_start": 1778,
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"cdna_start": 2380,
"cdna_end": null,
"cdna_length": 3261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1778T>G",
"hgvs_p": "p.Val593Gly",
"transcript": "ENST00000675572.1",
"protein_id": "ENSP00000501598.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 690,
"cds_start": 1778,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 2131,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1697T>G",
"hgvs_p": "p.Val566Gly",
"transcript": "ENST00000675789.1",
"protein_id": "ENSP00000501954.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 663,
"cds_start": 1697,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 2045,
"cdna_end": null,
"cdna_length": 2926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1088T>G",
"hgvs_p": "p.Val363Gly",
"transcript": "NM_001384144.1",
"protein_id": "NP_001371073.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 460,
"cds_start": 1088,
"cds_end": null,
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"cdna_start": 2220,
"cdna_end": null,
"cdna_length": 3115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1778T>G",
"hgvs_p": "p.Val593Gly",
"transcript": "XM_047424058.1",
"protein_id": "XP_047280014.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 690,
"cds_start": 1778,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 3143,
"cdna_end": null,
"cdna_length": 4040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1088T>G",
"hgvs_p": "p.Val363Gly",
"transcript": "XM_047424059.1",
"protein_id": "XP_047280015.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 460,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1295,
"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": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "n.*1601T>G",
"hgvs_p": null,
"transcript": "ENST00000472068.2",
"protein_id": "ENSP00000501555.1",
"transcript_support_level": 5,
"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": 2531,
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
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{
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],
"clinvar_disease": "Charcot-Marie-Tooth disease axonal type 2P,Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not provided|Charcot-Marie-Tooth disease axonal type 2P|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}