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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: 5-79623311-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=79623311&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 79623311,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001349549.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"transcript": "NM_001114394.3",
"protein_id": "NP_001107866.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 484,
"cds_start": 287,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000453514.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001114394.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"transcript": "ENST00000453514.6",
"protein_id": "ENSP00000397563.1",
"transcript_support_level": 5,
"aa_start": 96,
"aa_end": null,
"aa_length": 484,
"cds_start": 287,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001114394.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453514.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"transcript": "ENST00000423041.6",
"protein_id": "ENSP00000393412.2",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 480,
"cds_start": 287,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423041.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"transcript": "ENST00000504233.5",
"protein_id": "ENSP00000421966.1",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 441,
"cds_start": 287,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504233.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"transcript": "ENST00000947497.1",
"protein_id": "ENSP00000617556.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 531,
"cds_start": 287,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947497.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"transcript": "ENST00000947503.1",
"protein_id": "ENSP00000617562.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 527,
"cds_start": 287,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947503.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"transcript": "ENST00000923579.1",
"protein_id": "ENSP00000593638.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 519,
"cds_start": 287,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923579.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"transcript": "ENST00000947500.1",
"protein_id": "ENSP00000617559.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 515,
"cds_start": 287,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947500.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"transcript": "NM_001349549.2",
"protein_id": "NP_001336478.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 509,
"cds_start": 287,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349549.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"transcript": "NM_001349550.2",
"protein_id": "NP_001336479.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 509,
"cds_start": 287,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349550.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"transcript": "NM_001388093.1",
"protein_id": "NP_001375022.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 509,
"cds_start": 287,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388093.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"transcript": "NM_001388094.1",
"protein_id": "NP_001375023.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 509,
"cds_start": 287,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388094.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"transcript": "ENST00000885999.1",
"protein_id": "ENSP00000556058.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 509,
"cds_start": 287,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885999.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"transcript": "ENST00000886008.1",
"protein_id": "ENSP00000556067.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 509,
"cds_start": 287,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886008.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.284C>T",
"hgvs_p": "p.Pro95Leu",
"transcript": "ENST00000886014.1",
"protein_id": "ENSP00000556073.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 508,
"cds_start": 284,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886014.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"transcript": "ENST00000886003.1",
"protein_id": "ENSP00000556062.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 506,
"cds_start": 287,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886003.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"transcript": "NM_001349551.2",
"protein_id": "NP_001336480.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 505,
"cds_start": 287,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349551.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"transcript": "NM_001388095.1",
"protein_id": "NP_001375024.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 505,
"cds_start": 287,
"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": "NM_001388095.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"transcript": "NM_001388096.1",
"protein_id": "NP_001375025.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 505,
"cds_start": 287,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388096.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"transcript": "NM_001388097.1",
"protein_id": "NP_001375026.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 505,
"cds_start": 287,
"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": "NM_001388097.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"transcript": "ENST00000886011.1",
"protein_id": "ENSP00000556070.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 505,
"cds_start": 287,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886011.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"transcript": "ENST00000886015.1",
"protein_id": "ENSP00000556074.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 505,
"cds_start": 287,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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"bayesdelnoaf_prediction": "Uncertain_significance",
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{
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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
}