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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: 2-130152705-C-CCGGTAACTGCCCAGGAAG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=130152705&ref=C&alt=CCGGTAACTGCCCAGGAAG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 130152705,
"ref": "C",
"alt": "CCGGTAACTGCCCAGGAAG",
"effect": "disruptive_inframe_insertion",
"transcript": "NM_017751.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "RFLGSYR",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2316_2333dupCTTCCTGGGCAGTTACCG",
"hgvs_p": "p.Arg778_Thr779insPheLeuGlySerTyrArg",
"transcript": "NM_017951.5",
"protein_id": "NP_060421.3",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 827,
"cds_start": 2333,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000680298.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017951.5"
},
{
"aa_ref": "R",
"aa_alt": "RFLGSYR",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2316_2333dupCTTCCTGGGCAGTTACCG",
"hgvs_p": "p.Arg778_Thr779insPheLeuGlySerTyrArg",
"transcript": "ENST00000680298.1",
"protein_id": "ENSP00000506463.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 827,
"cds_start": 2333,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017951.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680298.1"
},
{
"aa_ref": "R",
"aa_alt": "RFLGSYR",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2433_2450dupCTTCCTGGGCAGTTACCG",
"hgvs_p": "p.Arg817_Thr818insPheLeuGlySerTyrArg",
"transcript": "ENST00000409031.5",
"protein_id": "ENSP00000386531.1",
"transcript_support_level": 1,
"aa_start": 817,
"aa_end": null,
"aa_length": 866,
"cds_start": 2450,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409031.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "n.*2020_*2037dupCTTCCTGGGCAGTTACCG",
"hgvs_p": null,
"transcript": "ENST00000454468.5",
"protein_id": "ENSP00000407591.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000454468.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "n.1256_1273dupCTTCCTGGGCAGTTACCG",
"hgvs_p": null,
"transcript": "ENST00000491128.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000491128.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "n.*2020_*2037dupCTTCCTGGGCAGTTACCG",
"hgvs_p": null,
"transcript": "ENST00000454468.5",
"protein_id": "ENSP00000407591.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000454468.5"
},
{
"aa_ref": "R",
"aa_alt": "RFLGSYR",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2367_2384dupCTTCCTGGGCAGTTACCG",
"hgvs_p": "p.Arg795_Thr796insPheLeuGlySerTyrArg",
"transcript": "ENST00000680679.1",
"protein_id": "ENSP00000505716.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 844,
"cds_start": 2384,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680679.1"
},
{
"aa_ref": "R",
"aa_alt": "RFLGSYR",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2346_2363dupCTTCCTGGGCAGTTACCG",
"hgvs_p": "p.Arg788_Thr789insPheLeuGlySerTyrArg",
"transcript": "NM_017751.4",
"protein_id": "NP_060221.2",
"transcript_support_level": null,
"aa_start": 788,
"aa_end": null,
"aa_length": 837,
"cds_start": 2363,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017751.4"
},
{
"aa_ref": "R",
"aa_alt": "RFLGSYR",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2346_2363dupCTTCCTGGGCAGTTACCG",
"hgvs_p": "p.Arg788_Thr789insPheLeuGlySerTyrArg",
"transcript": "ENST00000351288.10",
"protein_id": "ENSP00000259217.8",
"transcript_support_level": 2,
"aa_start": 788,
"aa_end": null,
"aa_length": 837,
"cds_start": 2363,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351288.10"
},
{
"aa_ref": "R",
"aa_alt": "RFLGSYR",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2316_2333dupCTTCCTGGGCAGTTACCG",
"hgvs_p": "p.Arg778_Thr779insPheLeuGlySerTyrArg",
"transcript": "ENST00000883567.1",
"protein_id": "ENSP00000553626.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 827,
"cds_start": 2333,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883567.1"
},
{
"aa_ref": "R",
"aa_alt": "RFLGSYR",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2316_2333dupCTTCCTGGGCAGTTACCG",
"hgvs_p": "p.Arg778_Thr779insPheLeuGlySerTyrArg",
"transcript": "ENST00000951021.1",
"protein_id": "ENSP00000621080.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 827,
"cds_start": 2333,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951021.1"
},
{
"aa_ref": "R",
"aa_alt": "RFLGSYR",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2298_2315dupCTTCCTGGGCAGTTACCG",
"hgvs_p": "p.Arg772_Thr773insPheLeuGlySerTyrArg",
"transcript": "ENST00000883569.1",
"protein_id": "ENSP00000553628.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 821,
"cds_start": 2315,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883569.1"
},
{
"aa_ref": "R",
"aa_alt": "RFLGSYR",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2187_2204dupCTTCCTGGGCAGTTACCG",
"hgvs_p": "p.Arg735_Thr736insPheLeuGlySerTyrArg",
"transcript": "ENST00000883570.1",
"protein_id": "ENSP00000553629.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 784,
"cds_start": 2204,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883570.1"
},
{
"aa_ref": "R",
"aa_alt": "RFLGSYR",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2127_2144dupCTTCCTGGGCAGTTACCG",
"hgvs_p": "p.Arg715_Thr716insPheLeuGlySerTyrArg",
"transcript": "NM_001171083.2",
"protein_id": "NP_001164554.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 764,
"cds_start": 2144,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171083.2"
},
{
"aa_ref": "R",
"aa_alt": "RFLGSYR",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2127_2144dupCTTCCTGGGCAGTTACCG",
"hgvs_p": "p.Arg715_Thr716insPheLeuGlySerTyrArg",
"transcript": "ENST00000431183.6",
"protein_id": "ENSP00000405187.2",
"transcript_support_level": 2,
"aa_start": 715,
"aa_end": null,
"aa_length": 764,
"cds_start": 2144,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431183.6"
},
{
"aa_ref": "R",
"aa_alt": "RFLGSYR",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2100_2117dupCTTCCTGGGCAGTTACCG",
"hgvs_p": "p.Arg706_Thr707insPheLeuGlySerTyrArg",
"transcript": "ENST00000883568.1",
"protein_id": "ENSP00000553627.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 755,
"cds_start": 2117,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883568.1"
},
{
"aa_ref": "R",
"aa_alt": "RFLGSYR",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2055_2072dupCTTCCTGGGCAGTTACCG",
"hgvs_p": "p.Arg691_Thr692insPheLeuGlySerTyrArg",
"transcript": "ENST00000439886.5",
"protein_id": "ENSP00000401648.1",
"transcript_support_level": 2,
"aa_start": 691,
"aa_end": null,
"aa_length": 740,
"cds_start": 2072,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439886.5"
},
{
"aa_ref": "R",
"aa_alt": "RFLGSYR",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.1119_1136dupCTTCCTGGGCAGTTACCG",
"hgvs_p": "p.Arg379_Thr380insPheLeuGlySerTyrArg",
"transcript": "ENST00000680401.1",
"protein_id": "ENSP00000506367.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 428,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680401.1"
},
{
"aa_ref": "R",
"aa_alt": "RFLGSYR",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2667_2684dupCTTCCTGGGCAGTTACCG",
"hgvs_p": "p.Arg895_Thr896insPheLeuGlySerTyrArg",
"transcript": "XM_011511443.3",
"protein_id": "XP_011509745.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 944,
"cds_start": 2684,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511443.3"
},
{
"aa_ref": "R",
"aa_alt": "RFLGSYR",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2580_2597dupCTTCCTGGGCAGTTACCG",
"hgvs_p": "p.Arg866_Thr867insPheLeuGlySerTyrArg",
"transcript": "XM_011511444.4",
"protein_id": "XP_011509746.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 915,
"cds_start": 2597,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511444.4"
},
{
"aa_ref": "R",
"aa_alt": "RFLGSYR",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 17,
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"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
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"alphamissense_score": null,
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"bayesdelnoaf_score": null,
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"phylop100way_score": 4.139,
"phylop100way_prediction": "Uncertain_significance",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM4",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_017751.4",
"gene_symbol": "SMPD4",
"hgnc_id": 32949,
"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "AR",
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"hgvs_p": "p.Arg788_Thr789insPheLeuGlySerTyrArg"
}
],
"clinvar_disease": " and structural brain anomalies, arthrogryposis,Neurodevelopmental disorder with microcephaly,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}