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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: 7-101816068-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=101816068&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 101816068,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001202543.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.38A>G",
"hgvs_p": "p.Lys13Arg",
"transcript": "NM_001913.5",
"protein_id": "NP_001904.2",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 678,
"cds_start": 38,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000622516.6",
"biotype": "protein_coding",
"feature": "NM_001913.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.38A>G",
"hgvs_p": "p.Lys13Arg",
"transcript": "ENST00000622516.6",
"protein_id": "ENSP00000484760.2",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 678,
"cds_start": 38,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_001913.5",
"biotype": "protein_coding",
"feature": "ENST00000622516.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.38A>G",
"hgvs_p": "p.Lys13Arg",
"transcript": "ENST00000360264.7",
"protein_id": "ENSP00000353401.3",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 1516,
"cds_start": 38,
"cds_end": null,
"cds_length": 4551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360264.7"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.38A>G",
"hgvs_p": "p.Lys13Arg",
"transcript": "ENST00000292538.9",
"protein_id": "ENSP00000292538.4",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 678,
"cds_start": 38,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292538.9"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.38A>G",
"hgvs_p": "p.Lys13Arg",
"transcript": "ENST00000437600.9",
"protein_id": "ENSP00000414091.5",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 676,
"cds_start": 38,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437600.9"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.38A>G",
"hgvs_p": "p.Lys13Arg",
"transcript": "NM_001202543.2",
"protein_id": "NP_001189472.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1516,
"cds_start": 38,
"cds_end": null,
"cds_length": 4551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202543.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.38A>G",
"hgvs_p": "p.Lys13Arg",
"transcript": "ENST00000645010.1",
"protein_id": "ENSP00000496653.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1460,
"cds_start": 38,
"cds_end": null,
"cds_length": 4383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645010.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.38A>G",
"hgvs_p": "p.Lys13Arg",
"transcript": "ENST00000646649.1",
"protein_id": "ENSP00000494610.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1358,
"cds_start": 38,
"cds_end": null,
"cds_length": 4077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646649.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.38A>G",
"hgvs_p": "p.Lys13Arg",
"transcript": "NM_181500.4",
"protein_id": "NP_852477.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 676,
"cds_start": 38,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181500.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.38A>G",
"hgvs_p": "p.Lys13Arg",
"transcript": "NM_001202544.3",
"protein_id": "NP_001189473.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 662,
"cds_start": 38,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202544.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.38A>G",
"hgvs_p": "p.Lys13Arg",
"transcript": "ENST00000547394.6",
"protein_id": "ENSP00000449371.2",
"transcript_support_level": 2,
"aa_start": 13,
"aa_end": null,
"aa_length": 662,
"cds_start": 38,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547394.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.38A>G",
"hgvs_p": "p.Lys13Arg",
"transcript": "NM_001202546.3",
"protein_id": "NP_001189475.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 639,
"cds_start": 38,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202546.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.38A>G",
"hgvs_p": "p.Lys13Arg",
"transcript": "ENST00000393824.7",
"protein_id": "ENSP00000377410.3",
"transcript_support_level": 2,
"aa_start": 13,
"aa_end": null,
"aa_length": 639,
"cds_start": 38,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393824.7"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.38A>G",
"hgvs_p": "p.Lys13Arg",
"transcript": "NM_001202545.3",
"protein_id": "NP_001189474.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 632,
"cds_start": 38,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202545.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.38A>G",
"hgvs_p": "p.Lys13Arg",
"transcript": "ENST00000425244.6",
"protein_id": "ENSP00000409745.2",
"transcript_support_level": 2,
"aa_start": 13,
"aa_end": null,
"aa_length": 632,
"cds_start": 38,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425244.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.38A>G",
"hgvs_p": "p.Lys13Arg",
"transcript": "XM_047419908.1",
"protein_id": "XP_047275864.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1515,
"cds_start": 38,
"cds_end": null,
"cds_length": 4548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419908.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.38A>G",
"hgvs_p": "p.Lys13Arg",
"transcript": "XM_047419909.1",
"protein_id": "XP_047275865.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1514,
"cds_start": 38,
"cds_end": null,
"cds_length": 4545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419909.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.38A>G",
"hgvs_p": "p.Lys13Arg",
"transcript": "XM_047419910.1",
"protein_id": "XP_047275866.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1513,
"cds_start": 38,
"cds_end": null,
"cds_length": 4542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419910.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.38A>G",
"hgvs_p": "p.Lys13Arg",
"transcript": "XM_047419912.1",
"protein_id": "XP_047275868.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1494,
"cds_start": 38,
"cds_end": null,
"cds_length": 4485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419912.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.38A>G",
"hgvs_p": "p.Lys13Arg",
"transcript": "XM_047419913.1",
"protein_id": "XP_047275869.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1493,
"cds_start": 38,
"cds_end": null,
"cds_length": 4482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419913.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.38A>G",
"hgvs_p": "p.Lys13Arg",
"transcript": "XM_017011760.3",
"protein_id": "XP_016867249.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1492,
"cds_start": 38,
"cds_end": null,
"cds_length": 4479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011760.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX1",
"gene_hgnc_id": 2557,
"hgvs_c": "c.38A>G",
"hgvs_p": "p.Lys13Arg",
"transcript": "XM_011515825.3",
"protein_id": "XP_011514127.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1414,
"cds_start": 38,
"cds_end": null,
"cds_length": 4245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515825.3"
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{
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{
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{
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],
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],
"gene_symbol": "CUX1",
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"dbsnp": "rs1219523928",
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"hom_count_reference_population": 0,
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"computational_score_selected": 0.34179484844207764,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.175,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.898,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
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"apogee2_prediction": null,
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"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
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"criteria": [
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"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001202543.2",
"gene_symbol": "CUX1",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
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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
}