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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: 5-154793985-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=154793985&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 154793985,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_033551.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352Trp",
"transcript": "NM_033551.3",
"protein_id": "NP_291029.2",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 1096,
"cds_start": 1054,
"cds_end": null,
"cds_length": 3291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000518297.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033551.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352Trp",
"transcript": "ENST00000518297.6",
"protein_id": "ENSP00000428589.2",
"transcript_support_level": 5,
"aa_start": 352,
"aa_end": null,
"aa_length": 1096,
"cds_start": 1054,
"cds_end": null,
"cds_length": 3291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033551.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518297.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.823C>T",
"hgvs_p": "p.Arg275Trp",
"transcript": "ENST00000336314.9",
"protein_id": "ENSP00000336721.4",
"transcript_support_level": 1,
"aa_start": 275,
"aa_end": null,
"aa_length": 1019,
"cds_start": 823,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336314.9"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352Trp",
"transcript": "ENST00000913421.1",
"protein_id": "ENSP00000583480.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 1095,
"cds_start": 1054,
"cds_end": null,
"cds_length": 3288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913421.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352Trp",
"transcript": "ENST00000913419.1",
"protein_id": "ENSP00000583478.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 1080,
"cds_start": 1054,
"cds_end": null,
"cds_length": 3243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913419.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.823C>T",
"hgvs_p": "p.Arg275Trp",
"transcript": "NM_015315.6",
"protein_id": "NP_056130.2",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 1019,
"cds_start": 823,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015315.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.439C>T",
"hgvs_p": "p.Arg147Trp",
"transcript": "NM_001367713.1",
"protein_id": "NP_001354642.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 891,
"cds_start": 439,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367713.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.439C>T",
"hgvs_p": "p.Arg147Trp",
"transcript": "NM_001367714.1",
"protein_id": "NP_001354643.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 891,
"cds_start": 439,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367714.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.439C>T",
"hgvs_p": "p.Arg147Trp",
"transcript": "NM_001367719.1",
"protein_id": "NP_001354648.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 891,
"cds_start": 439,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367719.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.439C>T",
"hgvs_p": "p.Arg147Trp",
"transcript": "ENST00000685946.1",
"protein_id": "ENSP00000509794.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 891,
"cds_start": 439,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685946.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.439C>T",
"hgvs_p": "p.Arg147Trp",
"transcript": "ENST00000690816.1",
"protein_id": "ENSP00000508743.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 891,
"cds_start": 439,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690816.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.439C>T",
"hgvs_p": "p.Arg147Trp",
"transcript": "ENST00000524248.5",
"protein_id": "ENSP00000429904.1",
"transcript_support_level": 5,
"aa_start": 147,
"aa_end": null,
"aa_length": 609,
"cds_start": 439,
"cds_end": null,
"cds_length": 1832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524248.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.730C>T",
"hgvs_p": "p.Arg244Trp",
"transcript": "XM_047417040.1",
"protein_id": "XP_047272996.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 988,
"cds_start": 730,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417040.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.730C>T",
"hgvs_p": "p.Arg244Trp",
"transcript": "XM_047417041.1",
"protein_id": "XP_047272997.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
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"cds_start": 730,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417041.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Arg217Trp",
"transcript": "XM_011537617.2",
"protein_id": "XP_011535919.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 961,
"cds_start": 649,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537617.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.439C>T",
"hgvs_p": "p.Arg147Trp",
"transcript": "XM_005268408.4",
"protein_id": "XP_005268465.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 891,
"cds_start": 439,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268408.4"
},
{
"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": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.979+75C>T",
"hgvs_p": null,
"transcript": "ENST00000955841.1",
"protein_id": "ENSP00000625900.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1066,
"cds_start": null,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955841.1"
},
{
"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": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.970+84C>T",
"hgvs_p": null,
"transcript": "NM_001367718.1",
"protein_id": "NP_001354647.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1063,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367718.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.937+84C>T",
"hgvs_p": null,
"transcript": "ENST00000913420.1",
"protein_id": "ENSP00000583479.1",
"transcript_support_level": null,
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"aa_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913420.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.760+63C>T",
"hgvs_p": null,
"transcript": "NM_001367717.1",
"protein_id": "NP_001354646.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367717.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.355+84C>T",
"hgvs_p": null,
"transcript": "NM_001367716.1",
"protein_id": "NP_001354645.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 858,
"cds_start": null,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367716.1"
},
{
"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": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.355+84C>T",
"hgvs_p": null,
"transcript": "ENST00000687700.1",
"protein_id": "ENSP00000508958.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 858,
"cds_start": null,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687700.1"
},
{
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"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
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{
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],
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}