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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: 6-35118499-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=35118499&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 35118499,
"ref": "G",
"alt": "C",
"effect": "stop_gained",
"transcript": "NM_001366330.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.1282C>G",
"hgvs_p": "p.Gln428Glu",
"transcript": "NM_001370687.1",
"protein_id": "NP_001357616.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 503,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000311875.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370687.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.1282C>G",
"hgvs_p": "p.Gln428Glu",
"transcript": "ENST00000311875.11",
"protein_id": "ENSP00000308708.6",
"transcript_support_level": 1,
"aa_start": 428,
"aa_end": null,
"aa_length": 503,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001370687.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311875.11"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.1282C>G",
"hgvs_p": "p.Gln428Glu",
"transcript": "ENST00000512012.5",
"protein_id": "ENSP00000425995.1",
"transcript_support_level": 1,
"aa_start": 428,
"aa_end": null,
"aa_length": 503,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512012.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.1096C>G",
"hgvs_p": "p.Gln366Glu",
"transcript": "ENST00000244645.7",
"protein_id": "ENSP00000244645.3",
"transcript_support_level": 1,
"aa_start": 366,
"aa_end": null,
"aa_length": 441,
"cds_start": 1096,
"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": "ENST00000244645.7"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.1093C>G",
"hgvs_p": "p.Gln365Glu",
"transcript": "ENST00000611141.4",
"protein_id": "ENSP00000478603.1",
"transcript_support_level": 1,
"aa_start": 365,
"aa_end": null,
"aa_length": 440,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611141.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "n.*1250C>G",
"hgvs_p": null,
"transcript": "ENST00000455706.7",
"protein_id": "ENSP00000399012.3",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000455706.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "n.*1362C>G",
"hgvs_p": null,
"transcript": "ENST00000504758.6",
"protein_id": "ENSP00000421916.2",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000504758.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "n.*1347C>G",
"hgvs_p": null,
"transcript": "ENST00000505911.6",
"protein_id": "ENSP00000423293.2",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000505911.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "n.*1250C>G",
"hgvs_p": null,
"transcript": "ENST00000455706.7",
"protein_id": "ENSP00000399012.3",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000455706.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "n.*1362C>G",
"hgvs_p": null,
"transcript": "ENST00000504758.6",
"protein_id": "ENSP00000421916.2",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000504758.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "n.*1347C>G",
"hgvs_p": null,
"transcript": "ENST00000505911.6",
"protein_id": "ENSP00000423293.2",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000505911.6"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.878C>G",
"hgvs_p": "p.Ser293*",
"transcript": "NM_001366330.2",
"protein_id": "NP_001353259.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 321,
"cds_start": 878,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366330.2"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.1340C>G",
"hgvs_p": "p.Ser447*",
"transcript": "XM_011514830.3",
"protein_id": "XP_011513132.2",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 475,
"cds_start": 1340,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514830.3"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.1321C>G",
"hgvs_p": "p.Gln441Glu",
"transcript": "ENST00000673754.1",
"protein_id": "ENSP00000501201.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 516,
"cds_start": 1321,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673754.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.1267C>G",
"hgvs_p": "p.Gln423Glu",
"transcript": "NM_001261817.2",
"protein_id": "NP_001248746.2",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 498,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261817.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.1267C>G",
"hgvs_p": "p.Gln423Glu",
"transcript": "ENST00000444780.7",
"protein_id": "ENSP00000404479.3",
"transcript_support_level": 2,
"aa_start": 423,
"aa_end": null,
"aa_length": 498,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444780.7"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.1183C>G",
"hgvs_p": "p.Gln395Glu",
"transcript": "NM_001261818.2",
"protein_id": "NP_001248747.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 470,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261818.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.1183C>G",
"hgvs_p": "p.Gln395Glu",
"transcript": "ENST00000373974.8",
"protein_id": "ENSP00000363085.4",
"transcript_support_level": 2,
"aa_start": 395,
"aa_end": null,
"aa_length": 470,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373974.8"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.1168C>G",
"hgvs_p": "p.Gln390Glu",
"transcript": "NM_001261819.2",
"protein_id": "NP_001248748.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 465,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261819.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.1168C>G",
"hgvs_p": "p.Gln390Glu",
"transcript": "ENST00000412155.6",
"protein_id": "ENSP00000402816.2",
"transcript_support_level": 2,
"aa_start": 390,
"aa_end": null,
"aa_length": 465,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412155.6"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.1096C>G",
"hgvs_p": "p.Gln366Glu",
"transcript": "NM_001366324.2",
"protein_id": "NP_001353253.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 441,
"cds_start": 1096,
"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": "NM_001366324.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.1096C>G",
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"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
}