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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: 10-84144085-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=84144085&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 84144085,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014394.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHITM",
"gene_hgnc_id": 17281,
"hgvs_c": "c.320T>C",
"hgvs_p": "p.Ile107Thr",
"transcript": "NM_014394.3",
"protein_id": "NP_055209.2",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 345,
"cds_start": 320,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372134.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014394.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHITM",
"gene_hgnc_id": 17281,
"hgvs_c": "c.320T>C",
"hgvs_p": "p.Ile107Thr",
"transcript": "ENST00000372134.6",
"protein_id": "ENSP00000361207.3",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 345,
"cds_start": 320,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014394.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372134.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHITM",
"gene_hgnc_id": 17281,
"hgvs_c": "c.320T>C",
"hgvs_p": "p.Ile107Thr",
"transcript": "ENST00000897422.1",
"protein_id": "ENSP00000567481.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 354,
"cds_start": 320,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897422.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHITM",
"gene_hgnc_id": 17281,
"hgvs_c": "c.320T>C",
"hgvs_p": "p.Ile107Thr",
"transcript": "ENST00000686247.1",
"protein_id": "ENSP00000509112.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 345,
"cds_start": 320,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686247.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHITM",
"gene_hgnc_id": 17281,
"hgvs_c": "c.320T>C",
"hgvs_p": "p.Ile107Thr",
"transcript": "ENST00000686583.1",
"protein_id": "ENSP00000510236.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 345,
"cds_start": 320,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686583.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHITM",
"gene_hgnc_id": 17281,
"hgvs_c": "c.320T>C",
"hgvs_p": "p.Ile107Thr",
"transcript": "ENST00000687085.1",
"protein_id": "ENSP00000510576.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 345,
"cds_start": 320,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687085.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHITM",
"gene_hgnc_id": 17281,
"hgvs_c": "c.320T>C",
"hgvs_p": "p.Ile107Thr",
"transcript": "ENST00000688802.1",
"protein_id": "ENSP00000509674.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 345,
"cds_start": 320,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688802.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHITM",
"gene_hgnc_id": 17281,
"hgvs_c": "c.320T>C",
"hgvs_p": "p.Ile107Thr",
"transcript": "ENST00000690067.1",
"protein_id": "ENSP00000508495.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 345,
"cds_start": 320,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690067.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHITM",
"gene_hgnc_id": 17281,
"hgvs_c": "c.320T>C",
"hgvs_p": "p.Ile107Thr",
"transcript": "ENST00000690283.1",
"protein_id": "ENSP00000508559.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 345,
"cds_start": 320,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690283.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHITM",
"gene_hgnc_id": 17281,
"hgvs_c": "c.320T>C",
"hgvs_p": "p.Ile107Thr",
"transcript": "ENST00000690920.1",
"protein_id": "ENSP00000509697.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 345,
"cds_start": 320,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690920.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHITM",
"gene_hgnc_id": 17281,
"hgvs_c": "c.320T>C",
"hgvs_p": "p.Ile107Thr",
"transcript": "ENST00000691155.1",
"protein_id": "ENSP00000510216.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 345,
"cds_start": 320,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691155.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHITM",
"gene_hgnc_id": 17281,
"hgvs_c": "c.320T>C",
"hgvs_p": "p.Ile107Thr",
"transcript": "ENST00000691609.1",
"protein_id": "ENSP00000509708.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 345,
"cds_start": 320,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691609.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHITM",
"gene_hgnc_id": 17281,
"hgvs_c": "c.320T>C",
"hgvs_p": "p.Ile107Thr",
"transcript": "ENST00000897421.1",
"protein_id": "ENSP00000567480.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 345,
"cds_start": 320,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897421.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHITM",
"gene_hgnc_id": 17281,
"hgvs_c": "c.320T>C",
"hgvs_p": "p.Ile107Thr",
"transcript": "ENST00000897424.1",
"protein_id": "ENSP00000567483.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 345,
"cds_start": 320,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897424.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHITM",
"gene_hgnc_id": 17281,
"hgvs_c": "c.320T>C",
"hgvs_p": "p.Ile107Thr",
"transcript": "ENST00000897425.1",
"protein_id": "ENSP00000567484.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 345,
"cds_start": 320,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897425.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHITM",
"gene_hgnc_id": 17281,
"hgvs_c": "c.320T>C",
"hgvs_p": "p.Ile107Thr",
"transcript": "ENST00000897426.1",
"protein_id": "ENSP00000567485.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 345,
"cds_start": 320,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897426.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHITM",
"gene_hgnc_id": 17281,
"hgvs_c": "c.320T>C",
"hgvs_p": "p.Ile107Thr",
"transcript": "ENST00000897427.1",
"protein_id": "ENSP00000567486.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 345,
"cds_start": 320,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897427.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHITM",
"gene_hgnc_id": 17281,
"hgvs_c": "c.320T>C",
"hgvs_p": "p.Ile107Thr",
"transcript": "ENST00000897428.1",
"protein_id": "ENSP00000567487.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 345,
"cds_start": 320,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897428.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHITM",
"gene_hgnc_id": 17281,
"hgvs_c": "c.320T>C",
"hgvs_p": "p.Ile107Thr",
"transcript": "ENST00000924091.1",
"protein_id": "ENSP00000594150.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 345,
"cds_start": 320,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924091.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHITM",
"gene_hgnc_id": 17281,
"hgvs_c": "c.320T>C",
"hgvs_p": "p.Ile107Thr",
"transcript": "ENST00000924092.1",
"protein_id": "ENSP00000594151.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 345,
"cds_start": 320,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924092.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHITM",
"gene_hgnc_id": 17281,
"hgvs_c": "c.320T>C",
"hgvs_p": "p.Ile107Thr",
"transcript": "ENST00000924093.1",
"protein_id": "ENSP00000594152.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 345,
"cds_start": 320,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924093.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHITM",
"gene_hgnc_id": 17281,
"hgvs_c": "c.320T>C",
"hgvs_p": "p.Ile107Thr",
"transcript": "ENST00000924095.1",
"protein_id": "ENSP00000594154.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 345,
"cds_start": 320,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"splice_prediction_selected": "Benign",
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"alphamissense_prediction": "Benign",
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"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Uncertain_significance",
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{
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"criteria": [
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}