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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: 10-100233333-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=100233333&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 100233333,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_018294.6",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWF19L1",
"gene_hgnc_id": 25613,
"hgvs_c": "c.1511A>G",
"hgvs_p": "p.Asp504Gly",
"transcript": "NM_018294.6",
"protein_id": "NP_060764.3",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 538,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1556,
"cdna_end": null,
"cdna_length": 2591,
"mane_select": "ENST00000354105.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018294.6"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWF19L1",
"gene_hgnc_id": 25613,
"hgvs_c": "c.1511A>G",
"hgvs_p": "p.Asp504Gly",
"transcript": "ENST00000354105.10",
"protein_id": "ENSP00000326411.6",
"transcript_support_level": 1,
"aa_start": 504,
"aa_end": null,
"aa_length": 538,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1556,
"cdna_end": null,
"cdna_length": 2591,
"mane_select": "NM_018294.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354105.10"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWF19L1",
"gene_hgnc_id": 25613,
"hgvs_c": "c.1511A>G",
"hgvs_p": "p.Asp504Gly",
"transcript": "ENST00000950162.1",
"protein_id": "ENSP00000620221.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 538,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1555,
"cdna_end": null,
"cdna_length": 2590,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950162.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWF19L1",
"gene_hgnc_id": 25613,
"hgvs_c": "c.1508A>G",
"hgvs_p": "p.Asp503Gly",
"transcript": "ENST00000950161.1",
"protein_id": "ENSP00000620220.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 537,
"cds_start": 1508,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1563,
"cdna_end": null,
"cdna_length": 2597,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950161.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWF19L1",
"gene_hgnc_id": 25613,
"hgvs_c": "c.1502A>G",
"hgvs_p": "p.Asp501Gly",
"transcript": "ENST00000905384.1",
"protein_id": "ENSP00000575443.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 535,
"cds_start": 1502,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1557,
"cdna_end": null,
"cdna_length": 2591,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905384.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWF19L1",
"gene_hgnc_id": 25613,
"hgvs_c": "c.1391A>G",
"hgvs_p": "p.Asp464Gly",
"transcript": "NM_001303404.2",
"protein_id": "NP_001290333.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 498,
"cds_start": 1391,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1436,
"cdna_end": null,
"cdna_length": 2471,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303404.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWF19L1",
"gene_hgnc_id": 25613,
"hgvs_c": "c.1391A>G",
"hgvs_p": "p.Asp464Gly",
"transcript": "ENST00000905383.1",
"protein_id": "ENSP00000575442.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 498,
"cds_start": 1391,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905383.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "CWF19L1",
"gene_hgnc_id": 25613,
"hgvs_c": "c.1178A>G",
"hgvs_p": "p.Asp393Gly",
"transcript": "ENST00000950160.1",
"protein_id": "ENSP00000620219.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 427,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1269,
"cdna_end": null,
"cdna_length": 2304,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950160.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "CWF19L1",
"gene_hgnc_id": 25613,
"hgvs_c": "c.1175A>G",
"hgvs_p": "p.Asp392Gly",
"transcript": "ENST00000921478.1",
"protein_id": "ENSP00000591537.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 426,
"cds_start": 1175,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 2252,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921478.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWF19L1",
"gene_hgnc_id": 25613,
"hgvs_c": "c.1100A>G",
"hgvs_p": "p.Asp367Gly",
"transcript": "NM_001303405.2",
"protein_id": "NP_001290334.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 401,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1601,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303405.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "CWF19L1",
"gene_hgnc_id": 25613,
"hgvs_c": "c.1100A>G",
"hgvs_p": "p.Asp367Gly",
"transcript": "NM_001303406.2",
"protein_id": "NP_001290335.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 401,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 2325,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303406.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWF19L1",
"gene_hgnc_id": 25613,
"hgvs_c": "c.776A>G",
"hgvs_p": "p.Asp259Gly",
"transcript": "NM_001303407.2",
"protein_id": "NP_001290336.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 293,
"cds_start": 776,
"cds_end": null,
"cds_length": 882,
"cdna_start": 1325,
"cdna_end": null,
"cdna_length": 2360,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303407.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHUK-DT",
"gene_hgnc_id": 55813,
"hgvs_c": "n.688T>C",
"hgvs_p": null,
"transcript": "ENST00000444359.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 846,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000444359.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWF19L1",
"gene_hgnc_id": 25613,
"hgvs_c": "n.*1061A>G",
"hgvs_p": null,
"transcript": "ENST00000468709.5",
"protein_id": "ENSP00000492991.1",
"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": 2402,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000468709.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWF19L1",
"gene_hgnc_id": 25613,
"hgvs_c": "n.1666A>G",
"hgvs_p": null,
"transcript": "ENST00000478047.1",
"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": 2694,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000478047.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWF19L1",
"gene_hgnc_id": 25613,
"hgvs_c": "n.*898A>G",
"hgvs_p": null,
"transcript": "ENST00000482452.5",
"protein_id": "ENSP00000492899.1",
"transcript_support_level": 5,
"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": 1606,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000482452.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHUK-DT",
"gene_hgnc_id": 55813,
"hgvs_c": "n.311T>C",
"hgvs_p": null,
"transcript": "ENST00000667469.2",
"protein_id": null,
"transcript_support_level": null,
"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": 870,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000667469.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHUK-DT",
"gene_hgnc_id": 55813,
"hgvs_c": "n.315T>C",
"hgvs_p": null,
"transcript": "ENST00000751289.1",
"protein_id": null,
"transcript_support_level": null,
"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": 825,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000751289.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHUK-DT",
"gene_hgnc_id": 55813,
"hgvs_c": "n.274T>C",
"hgvs_p": null,
"transcript": "ENST00000751290.1",
"protein_id": null,
"transcript_support_level": null,
"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": 603,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000751290.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHUK-DT",
"gene_hgnc_id": 55813,
"hgvs_c": "n.160T>C",
"hgvs_p": null,
"transcript": "ENST00000751291.1",
"protein_id": null,
"transcript_support_level": null,
"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": 615,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000751291.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHUK-DT",
"gene_hgnc_id": 55813,
"hgvs_c": "n.251T>C",
"hgvs_p": null,
"transcript": "ENST00000751293.1",
"protein_id": null,
"transcript_support_level": null,
"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": 726,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000751293.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHUK-DT",
"gene_hgnc_id": 55813,
"hgvs_c": "n.311T>C",
"hgvs_p": null,
"transcript": "ENST00000751294.1",
"protein_id": null,
"transcript_support_level": null,
"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": 848,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000751294.1"
},
{
"aa_ref": null,
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.097,
"revel_prediction": "Benign",
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"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
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"criteria": [
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
"transcript": "NM_018294.6",
"gene_symbol": "CWF19L1",
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"effects": [
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"inheritance_mode": "AR",
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{
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"verdict": "Uncertain_significance",
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"inheritance_mode": "",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}