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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: 11-132330155-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=132330155&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 132330155,
"ref": "G",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000683400.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.937G>T",
"hgvs_p": "p.Val313Leu",
"transcript": "NM_001352005.2",
"protein_id": "NP_001338934.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 355,
"cds_start": 937,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 2936,
"mane_select": "ENST00000683400.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.937G>T",
"hgvs_p": "p.Val313Leu",
"transcript": "ENST00000683400.1",
"protein_id": "ENSP00000507313.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 355,
"cds_start": 937,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 2936,
"mane_select": "NM_001352005.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.937G>T",
"hgvs_p": "p.Val313Leu",
"transcript": "ENST00000425719.6",
"protein_id": "ENSP00000396722.2",
"transcript_support_level": 1,
"aa_start": 313,
"aa_end": null,
"aa_length": 355,
"cds_start": 937,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 1607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.935-4891G>T",
"hgvs_p": null,
"transcript": "ENST00000374786.5",
"protein_id": "ENSP00000363918.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": -4,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.935-4891G>T",
"hgvs_p": null,
"transcript": "ENST00000374791.7",
"protein_id": "ENSP00000363923.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": -4,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.973G>T",
"hgvs_p": "p.Val325Leu",
"transcript": "NM_001352001.2",
"protein_id": "NP_001338930.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 367,
"cds_start": 973,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 1165,
"cdna_end": null,
"cdna_length": 2972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.973G>T",
"hgvs_p": "p.Val325Leu",
"transcript": "NM_001352002.2",
"protein_id": "NP_001338931.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 367,
"cds_start": 973,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 1119,
"cdna_end": null,
"cdna_length": 2926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.937G>T",
"hgvs_p": "p.Val313Leu",
"transcript": "NM_001144058.2",
"protein_id": "NP_001137530.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 355,
"cds_start": 937,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1083,
"cdna_end": null,
"cdna_length": 2890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.910G>T",
"hgvs_p": "p.Val304Leu",
"transcript": "NM_001352006.2",
"protein_id": "NP_001338935.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 346,
"cds_start": 910,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 3056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.850G>T",
"hgvs_p": "p.Val284Leu",
"transcript": "NM_001386968.1",
"protein_id": "NP_001373897.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 326,
"cds_start": 850,
"cds_end": null,
"cds_length": 981,
"cdna_start": 1165,
"cdna_end": null,
"cdna_length": 2764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.409G>T",
"hgvs_p": "p.Val137Leu",
"transcript": "ENST00000427481.6",
"protein_id": "ENSP00000416320.3",
"transcript_support_level": 5,
"aa_start": 137,
"aa_end": null,
"aa_length": 179,
"cds_start": 409,
"cds_end": null,
"cds_length": 540,
"cdna_start": 777,
"cdna_end": null,
"cdna_length": 2583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.226G>T",
"hgvs_p": "p.Val76Leu",
"transcript": "ENST00000457381.1",
"protein_id": "ENSP00000387984.1",
"transcript_support_level": 3,
"aa_start": 76,
"aa_end": null,
"aa_length": 118,
"cds_start": 226,
"cds_end": null,
"cds_length": 357,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "n.1297G>T",
"hgvs_p": null,
"transcript": "NR_170346.1",
"protein_id": null,
"transcript_support_level": null,
"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": 5446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "n.1165G>T",
"hgvs_p": null,
"transcript": "NR_170347.1",
"protein_id": null,
"transcript_support_level": null,
"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": 5314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "n.1044G>T",
"hgvs_p": null,
"transcript": "NR_170348.1",
"protein_id": null,
"transcript_support_level": null,
"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": 5429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "n.896G>T",
"hgvs_p": null,
"transcript": "NR_170349.1",
"protein_id": null,
"transcript_support_level": null,
"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": 5045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "n.1080G>T",
"hgvs_p": null,
"transcript": "NR_170350.1",
"protein_id": null,
"transcript_support_level": null,
"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": 5229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "n.1249G>T",
"hgvs_p": null,
"transcript": "NR_170351.1",
"protein_id": null,
"transcript_support_level": null,
"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": 5426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "n.1285G>T",
"hgvs_p": null,
"transcript": "NR_170352.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 5226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "n.1286G>T",
"hgvs_p": null,
"transcript": "NR_170354.1",
"protein_id": null,
"transcript_support_level": null,
"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": 5227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "n.1165G>T",
"hgvs_p": null,
"transcript": "NR_170355.1",
"protein_id": null,
"transcript_support_level": null,
"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": 5106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "n.1129G>T",
"hgvs_p": null,
"transcript": "NR_170357.1",
"protein_id": null,
"transcript_support_level": null,
"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": 5493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}