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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: 11-64117387-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64117387&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 64117387,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_013280.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT1",
"gene_hgnc_id": 3760,
"hgvs_c": "c.1120G>C",
"hgvs_p": "p.Glu374Gln",
"transcript": "NM_013280.5",
"protein_id": "NP_037412.2",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 674,
"cds_start": 1120,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000682287.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013280.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT1",
"gene_hgnc_id": 3760,
"hgvs_c": "c.1120G>C",
"hgvs_p": "p.Glu374Gln",
"transcript": "ENST00000682287.1",
"protein_id": "ENSP00000507207.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 674,
"cds_start": 1120,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013280.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682287.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT1",
"gene_hgnc_id": 3760,
"hgvs_c": "c.1120G>C",
"hgvs_p": "p.Glu374Gln",
"transcript": "ENST00000246841.3",
"protein_id": "ENSP00000246841.3",
"transcript_support_level": 1,
"aa_start": 374,
"aa_end": null,
"aa_length": 674,
"cds_start": 1120,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000246841.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MACROD1",
"gene_hgnc_id": 29598,
"hgvs_c": "c.517+33852C>G",
"hgvs_p": null,
"transcript": "NM_014067.4",
"protein_id": "NP_054786.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": null,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000255681.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014067.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MACROD1",
"gene_hgnc_id": 29598,
"hgvs_c": "c.517+33852C>G",
"hgvs_p": null,
"transcript": "ENST00000255681.7",
"protein_id": "ENSP00000255681.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": null,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014067.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000255681.7"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT1",
"gene_hgnc_id": 3760,
"hgvs_c": "c.1120G>C",
"hgvs_p": "p.Glu374Gln",
"transcript": "NM_001384466.1",
"protein_id": "NP_001371395.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 674,
"cds_start": 1120,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384466.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT1",
"gene_hgnc_id": 3760,
"hgvs_c": "c.1120G>C",
"hgvs_p": "p.Glu374Gln",
"transcript": "ENST00000909266.1",
"protein_id": "ENSP00000579325.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 674,
"cds_start": 1120,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909266.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT1",
"gene_hgnc_id": 3760,
"hgvs_c": "c.1036G>C",
"hgvs_p": "p.Glu346Gln",
"transcript": "NM_001423967.1",
"protein_id": "NP_001410896.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 646,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001423967.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT1",
"gene_hgnc_id": 3760,
"hgvs_c": "c.1036G>C",
"hgvs_p": "p.Glu346Gln",
"transcript": "ENST00000715990.1",
"protein_id": "ENSP00000520551.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 646,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715990.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT1",
"gene_hgnc_id": 3760,
"hgvs_c": "c.1120G>C",
"hgvs_p": "p.Glu374Gln",
"transcript": "XM_047426696.1",
"protein_id": "XP_047282652.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 674,
"cds_start": 1120,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426696.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT1",
"gene_hgnc_id": 3760,
"hgvs_c": "c.1120G>C",
"hgvs_p": "p.Glu374Gln",
"transcript": "XM_047426697.1",
"protein_id": "XP_047282653.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 674,
"cds_start": 1120,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426697.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT1",
"gene_hgnc_id": 3760,
"hgvs_c": "c.1120G>C",
"hgvs_p": "p.Glu374Gln",
"transcript": "XM_047426698.1",
"protein_id": "XP_047282654.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 674,
"cds_start": 1120,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426698.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT1",
"gene_hgnc_id": 3760,
"hgvs_c": "c.1120G>C",
"hgvs_p": "p.Glu374Gln",
"transcript": "XM_047426699.1",
"protein_id": "XP_047282655.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 674,
"cds_start": 1120,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426699.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MACROD1",
"gene_hgnc_id": 29598,
"hgvs_c": "c.517+33852C>G",
"hgvs_p": null,
"transcript": "ENST00000909130.1",
"protein_id": "ENSP00000579189.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": null,
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"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909130.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MACROD1",
"gene_hgnc_id": 29598,
"hgvs_c": "c.517+33852C>G",
"hgvs_p": null,
"transcript": "NM_001411019.1",
"protein_id": "NP_001397948.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": null,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411019.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MACROD1",
"gene_hgnc_id": 29598,
"hgvs_c": "c.517+33852C>G",
"hgvs_p": null,
"transcript": "ENST00000675777.1",
"protein_id": "ENSP00000502549.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cds_length": 1005,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675777.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MACROD1",
"gene_hgnc_id": 29598,
"hgvs_c": "c.517+33852C>G",
"hgvs_p": null,
"transcript": "ENST00000909127.1",
"protein_id": "ENSP00000579186.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 328,
"cds_start": null,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909127.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MACROD1",
"gene_hgnc_id": 29598,
"hgvs_c": "c.523+33852C>G",
"hgvs_p": null,
"transcript": "ENST00000909128.1",
"protein_id": "ENSP00000579187.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000909128.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MACROD1",
"gene_hgnc_id": 29598,
"hgvs_c": "c.517+33852C>G",
"hgvs_p": null,
"transcript": "ENST00000909125.1",
"protein_id": "ENSP00000579184.1",
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"aa_end": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000909125.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MACROD1",
"gene_hgnc_id": 29598,
"hgvs_c": "c.517+33852C>G",
"hgvs_p": null,
"transcript": "ENST00000909126.1",
"protein_id": "ENSP00000579185.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000909126.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MACROD1",
"gene_hgnc_id": 29598,
"hgvs_c": "c.517+33852C>G",
"hgvs_p": null,
"transcript": "ENST00000941620.1",
"protein_id": "ENSP00000611679.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 323,
"cds_start": null,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941620.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MACROD1",
"gene_hgnc_id": 29598,
"hgvs_c": "c.517+33852C>G",
"hgvs_p": null,
"transcript": "ENST00000941621.1",
"protein_id": "ENSP00000611680.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 320,
"cds_start": null,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941621.1"
},
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"computational_score_selected": 0.13559886813163757,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.057,
"revel_prediction": "Benign",
"alphamissense_score": 0.1916,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.985,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
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"pathogenic_score": 0,
"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_013280.5",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": -2,
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"criteria": [
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],
"verdict": "Likely_benign",
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],
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}
],
"clinvar_disease": "Peripheral neuropathy,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Peripheral neuropathy|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}