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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: 6-118566140-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=118566140&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 118566140,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001178035.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.409A>G",
"hgvs_p": "p.Ser137Gly",
"transcript": "NM_001042475.3",
"protein_id": "NP_001035940.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 805,
"cds_start": 409,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368491.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042475.3"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.409A>G",
"hgvs_p": "p.Ser137Gly",
"transcript": "ENST00000368491.8",
"protein_id": "ENSP00000357477.3",
"transcript_support_level": 1,
"aa_start": 137,
"aa_end": null,
"aa_length": 805,
"cds_start": 409,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001042475.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368491.8"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.418A>G",
"hgvs_p": "p.Ser140Gly",
"transcript": "ENST00000434604.5",
"protein_id": "ENSP00000392131.1",
"transcript_support_level": 1,
"aa_start": 140,
"aa_end": null,
"aa_length": 575,
"cds_start": 418,
"cds_end": null,
"cds_length": 1730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434604.5"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.418A>G",
"hgvs_p": "p.Ser140Gly",
"transcript": "ENST00000392500.7",
"protein_id": "ENSP00000376288.3",
"transcript_support_level": 1,
"aa_start": 140,
"aa_end": null,
"aa_length": 499,
"cds_start": 418,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392500.7"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.409A>G",
"hgvs_p": "p.Ser137Gly",
"transcript": "ENST00000419517.2",
"protein_id": "ENSP00000393317.2",
"transcript_support_level": 1,
"aa_start": 137,
"aa_end": null,
"aa_length": 496,
"cds_start": 409,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419517.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Ser35Gly",
"transcript": "ENST00000360290.7",
"protein_id": "ENSP00000353434.3",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 394,
"cds_start": 103,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360290.7"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.418A>G",
"hgvs_p": "p.Ser140Gly",
"transcript": "NM_001178035.2",
"protein_id": "NP_001171506.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 808,
"cds_start": 418,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178035.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.418A>G",
"hgvs_p": "p.Ser140Gly",
"transcript": "ENST00000368488.9",
"protein_id": "ENSP00000357474.5",
"transcript_support_level": 5,
"aa_start": 140,
"aa_end": null,
"aa_length": 808,
"cds_start": 418,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368488.9"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.409A>G",
"hgvs_p": "p.Ser137Gly",
"transcript": "ENST00000875590.1",
"protein_id": "ENSP00000545649.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 754,
"cds_start": 409,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875590.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.409A>G",
"hgvs_p": "p.Ser137Gly",
"transcript": "ENST00000875591.1",
"protein_id": "ENSP00000545650.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 745,
"cds_start": 409,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875591.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.409A>G",
"hgvs_p": "p.Ser137Gly",
"transcript": "NM_206921.3",
"protein_id": "NP_996804.2",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 496,
"cds_start": 409,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206921.3"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.418A>G",
"hgvs_p": "p.Ser140Gly",
"transcript": "XM_017010846.2",
"protein_id": "XP_016866335.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 808,
"cds_start": 418,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010846.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.418A>G",
"hgvs_p": "p.Ser140Gly",
"transcript": "XM_047418758.1",
"protein_id": "XP_047274714.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 808,
"cds_start": 418,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418758.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.418A>G",
"hgvs_p": "p.Ser140Gly",
"transcript": "XM_047418759.1",
"protein_id": "XP_047274715.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 808,
"cds_start": 418,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418759.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.418A>G",
"hgvs_p": "p.Ser140Gly",
"transcript": "XM_047418760.1",
"protein_id": "XP_047274716.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 808,
"cds_start": 418,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418760.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.418A>G",
"hgvs_p": "p.Ser140Gly",
"transcript": "XM_011535810.3",
"protein_id": "XP_011534112.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 748,
"cds_start": 418,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535810.3"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.409A>G",
"hgvs_p": "p.Ser137Gly",
"transcript": "XM_047418761.1",
"protein_id": "XP_047274717.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 745,
"cds_start": 409,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418761.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Ser35Gly",
"transcript": "XM_005266970.2",
"protein_id": "XP_005267027.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 703,
"cds_start": 103,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266970.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Ser35Gly",
"transcript": "XM_005266971.2",
"protein_id": "XP_005267028.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 703,
"cds_start": 103,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266971.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Ser35Gly",
"transcript": "XM_011535811.2",
"protein_id": "XP_011534113.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 703,
"cds_start": 103,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535811.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "n.435A>G",
"hgvs_p": null,
"transcript": "ENST00000462101.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "pseudogene",
"feature": "ENST00000462101.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "n.255A>G",
"hgvs_p": null,
"transcript": "ENST00000472713.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000472713.1"
},
{
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
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"verdict": "Benign",
"transcript": "NM_001178035.2",
"gene_symbol": "CEP85L",
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"effects": [
"missense_variant"
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"inheritance_mode": "AD",
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"hgvs_p": "p.Ser140Gly"
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{
"score": -14,
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"criteria": [
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"BP6_Moderate",
"BA1"
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"verdict": "Benign",
"transcript": "ENST00000659521.1",
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"effects": [
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"inheritance_mode": "",
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{
"score": -14,
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"BA1"
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"verdict": "Benign",
"transcript": "XR_001743819.3",
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"effects": [
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}
],
"clinvar_disease": "Lissencephaly 10",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "Lissencephaly 10",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}