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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: X-110676338-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=110676338&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 110676338,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001143981.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Gly424Arg",
"transcript": "NM_001143981.2",
"protein_id": "NP_001137453.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 458,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372042.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143981.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Gly424Arg",
"transcript": "ENST00000372042.6",
"protein_id": "ENSP00000361112.1",
"transcript_support_level": 2,
"aa_start": 424,
"aa_end": null,
"aa_length": 458,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001143981.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372042.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Gly423Arg",
"transcript": "ENST00000444321.2",
"protein_id": "ENSP00000399739.2",
"transcript_support_level": 1,
"aa_start": 423,
"aa_end": null,
"aa_length": 457,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444321.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Gly416Arg",
"transcript": "ENST00000372045.5",
"protein_id": "ENSP00000361115.1",
"transcript_support_level": 1,
"aa_start": 416,
"aa_end": null,
"aa_length": 450,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372045.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Gly424Arg",
"transcript": "NM_001367204.1",
"protein_id": "NP_001354133.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 458,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367204.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Gly424Arg",
"transcript": "ENST00000881327.1",
"protein_id": "ENSP00000551386.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 458,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881327.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Gly424Arg",
"transcript": "ENST00000944294.1",
"protein_id": "ENSP00000614353.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 458,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944294.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Gly423Arg",
"transcript": "NM_001143982.2",
"protein_id": "NP_001137454.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 457,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143982.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Gly423Arg",
"transcript": "ENST00000881325.1",
"protein_id": "ENSP00000551384.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 457,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881325.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Gly423Arg",
"transcript": "ENST00000881326.1",
"protein_id": "ENSP00000551385.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 457,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881326.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Gly423Arg",
"transcript": "ENST00000881328.1",
"protein_id": "ENSP00000551387.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 457,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881328.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.1264G>A",
"hgvs_p": "p.Gly422Arg",
"transcript": "NM_145234.4",
"protein_id": "NP_660277.2",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 456,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145234.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.1264G>A",
"hgvs_p": "p.Gly422Arg",
"transcript": "ENST00000394797.8",
"protein_id": "ENSP00000378276.4",
"transcript_support_level": 5,
"aa_start": 422,
"aa_end": null,
"aa_length": 456,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394797.8"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.1255G>A",
"hgvs_p": "p.Gly419Arg",
"transcript": "NM_001367205.1",
"protein_id": "NP_001354134.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 453,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367205.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.1255G>A",
"hgvs_p": "p.Gly419Arg",
"transcript": "NM_001367206.1",
"protein_id": "NP_001354135.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 453,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367206.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.1255G>A",
"hgvs_p": "p.Gly419Arg",
"transcript": "ENST00000881324.1",
"protein_id": "ENSP00000551383.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 453,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881324.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.1255G>A",
"hgvs_p": "p.Gly419Arg",
"transcript": "ENST00000881329.1",
"protein_id": "ENSP00000551388.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 453,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881329.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.1252G>A",
"hgvs_p": "p.Gly418Arg",
"transcript": "NM_001367207.1",
"protein_id": "NP_001354136.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 452,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367207.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.1252G>A",
"hgvs_p": "p.Gly418Arg",
"transcript": "NM_001367208.1",
"protein_id": "NP_001354137.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 452,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367208.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.1252G>A",
"hgvs_p": "p.Gly418Arg",
"transcript": "ENST00000881330.1",
"protein_id": "ENSP00000551389.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 452,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881330.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.1252G>A",
"hgvs_p": "p.Gly418Arg",
"transcript": "ENST00000881331.1",
"protein_id": "ENSP00000551390.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 452,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881331.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.1252G>A",
"hgvs_p": "p.Gly418Arg",
"transcript": "ENST00000932200.1",
"protein_id": "ENSP00000602259.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 452,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
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{
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],
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"biotype": "pseudogene",
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],
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"computational_score_selected": 0.31174999475479126,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.197,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.09,
"spliceai_max_prediction": "Benign",
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"acmg_score": -1,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"criteria": [
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],
"verdict": "Likely_benign",
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"effects": [
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],
"inheritance_mode": "XL",
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],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}