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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: 9-69251233-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=69251233&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 69251233,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000377245.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.3190G>T",
"hgvs_p": "p.Val1064Leu",
"transcript": "NM_004817.4",
"protein_id": "NP_004808.2",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 1190,
"cds_start": 3190,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 3286,
"cdna_end": null,
"cdna_length": 4503,
"mane_select": "ENST00000377245.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.3190G>T",
"hgvs_p": "p.Val1064Leu",
"transcript": "ENST00000377245.9",
"protein_id": "ENSP00000366453.4",
"transcript_support_level": 1,
"aa_start": 1064,
"aa_end": null,
"aa_length": 1190,
"cds_start": 3190,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 3286,
"cdna_end": null,
"cdna_length": 4503,
"mane_select": "NM_004817.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285130",
"gene_hgnc_id": null,
"hgvs_c": "c.3577G>T",
"hgvs_p": "p.Val1193Leu",
"transcript": "ENST00000642889.1",
"protein_id": "ENSP00000493780.1",
"transcript_support_level": null,
"aa_start": 1193,
"aa_end": null,
"aa_length": 1319,
"cds_start": 3577,
"cds_end": null,
"cds_length": 3960,
"cdna_start": 3610,
"cdna_end": null,
"cdna_length": 4806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.2881-1582G>T",
"hgvs_p": null,
"transcript": "ENST00000348208.9",
"protein_id": "ENSP00000345893.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1043,
"cds_start": -4,
"cds_end": null,
"cds_length": 3132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.3367G>T",
"hgvs_p": "p.Val1123Leu",
"transcript": "ENST00000636438.1",
"protein_id": "ENSP00000489860.1",
"transcript_support_level": 5,
"aa_start": 1123,
"aa_end": null,
"aa_length": 1249,
"cds_start": 3367,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 3481,
"cdna_end": null,
"cdna_length": 4689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.3283G>T",
"hgvs_p": "p.Val1095Leu",
"transcript": "NM_001170416.2",
"protein_id": "NP_001163887.1",
"transcript_support_level": null,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1221,
"cds_start": 3283,
"cds_end": null,
"cds_length": 3666,
"cdna_start": 3290,
"cdna_end": null,
"cdna_length": 4503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.3283G>T",
"hgvs_p": "p.Val1095Leu",
"transcript": "ENST00000539225.2",
"protein_id": "ENSP00000438262.1",
"transcript_support_level": 2,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1221,
"cds_start": 3283,
"cds_end": null,
"cds_length": 3666,
"cdna_start": 3283,
"cdna_end": null,
"cdna_length": 3838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.3202G>T",
"hgvs_p": "p.Val1068Leu",
"transcript": "NM_001369875.1",
"protein_id": "NP_001356804.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 1194,
"cds_start": 3202,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 3209,
"cdna_end": null,
"cdna_length": 4422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.3193G>T",
"hgvs_p": "p.Val1065Leu",
"transcript": "ENST00000650084.1",
"protein_id": "ENSP00000497861.1",
"transcript_support_level": null,
"aa_start": 1065,
"aa_end": null,
"aa_length": 1191,
"cds_start": 3193,
"cds_end": null,
"cds_length": 3576,
"cdna_start": 3193,
"cdna_end": null,
"cdna_length": 4389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.3121G>T",
"hgvs_p": "p.Val1041Leu",
"transcript": "NM_001369871.1",
"protein_id": "NP_001356800.1",
"transcript_support_level": null,
"aa_start": 1041,
"aa_end": null,
"aa_length": 1167,
"cds_start": 3121,
"cds_end": null,
"cds_length": 3504,
"cdna_start": 3468,
"cdna_end": null,
"cdna_length": 4681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.3115G>T",
"hgvs_p": "p.Val1039Leu",
"transcript": "NM_001369870.1",
"protein_id": "NP_001356799.1",
"transcript_support_level": null,
"aa_start": 1039,
"aa_end": null,
"aa_length": 1165,
"cds_start": 3115,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 3472,
"cdna_end": null,
"cdna_length": 4685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.3091G>T",
"hgvs_p": "p.Val1031Leu",
"transcript": "NM_001170415.1",
"protein_id": "NP_001163886.1",
"transcript_support_level": null,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1157,
"cds_start": 3091,
"cds_end": null,
"cds_length": 3474,
"cdna_start": 3242,
"cdna_end": null,
"cdna_length": 4459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.3091G>T",
"hgvs_p": "p.Val1031Leu",
"transcript": "ENST00000535702.6",
"protein_id": "ENSP00000442090.1",
"transcript_support_level": 2,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1157,
"cds_start": 3091,
"cds_end": null,
"cds_length": 3474,
"cdna_start": 3455,
"cdna_end": null,
"cdna_length": 3984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.3079G>T",
"hgvs_p": "p.Val1027Leu",
"transcript": "NM_001369872.1",
"protein_id": "NP_001356801.1",
"transcript_support_level": null,
"aa_start": 1027,
"aa_end": null,
"aa_length": 1153,
"cds_start": 3079,
"cds_end": null,
"cds_length": 3462,
"cdna_start": 3175,
"cdna_end": null,
"cdna_length": 4388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.3121G>T",
"hgvs_p": "p.Val1041Leu",
"transcript": "ENST00000650333.1",
"protein_id": "ENSP00000496791.1",
"transcript_support_level": null,
"aa_start": 1041,
"aa_end": null,
"aa_length": 1128,
"cds_start": 3121,
"cds_end": null,
"cds_length": 3387,
"cdna_start": 3186,
"cdna_end": null,
"cdna_length": 3612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.3079G>T",
"hgvs_p": "p.Val1027Leu",
"transcript": "ENST00000649943.1",
"protein_id": "ENSP00000497539.1",
"transcript_support_level": null,
"aa_start": 1027,
"aa_end": null,
"aa_length": 1099,
"cds_start": 3079,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 3170,
"cdna_end": null,
"cdna_length": 5672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.2866G>T",
"hgvs_p": "p.Val956Leu",
"transcript": "NM_001369873.1",
"protein_id": "NP_001356802.1",
"transcript_support_level": null,
"aa_start": 956,
"aa_end": null,
"aa_length": 1082,
"cds_start": 2866,
"cds_end": null,
"cds_length": 3249,
"cdna_start": 2962,
"cdna_end": null,
"cdna_length": 4175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.1573G>T",
"hgvs_p": "p.Val525Leu",
"transcript": "ENST00000648042.1",
"protein_id": "ENSP00000497059.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 651,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1575,
"cdna_end": null,
"cdna_length": 2771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.3121G>T",
"hgvs_p": "p.Val1041Leu",
"transcript": "XM_011519206.3",
"protein_id": "XP_011517508.1",
"transcript_support_level": null,
"aa_start": 1041,
"aa_end": null,
"aa_length": 1167,
"cds_start": 3121,
"cds_end": null,
"cds_length": 3504,
"cdna_start": 3595,
"cdna_end": null,
"cdna_length": 4812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.3121G>T",
"hgvs_p": "p.Val1041Leu",
"transcript": "XM_011519207.3",
"protein_id": "XP_011517509.1",
"transcript_support_level": null,
"aa_start": 1041,
"aa_end": null,
"aa_length": 1167,
"cds_start": 3121,
"cds_end": null,
"cds_length": 3504,
"cdna_start": 3350,
"cdna_end": null,
"cdna_length": 4567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.3121G>T",
"hgvs_p": "p.Val1041Leu",
"transcript": "XM_011519208.3",
"protein_id": "XP_011517510.1",
"transcript_support_level": null,
"aa_start": 1041,
"aa_end": null,
"aa_length": 1167,
"cds_start": 3121,
"cds_end": null,
"cds_length": 3504,
"cdna_start": 3353,
"cdna_end": null,
"cdna_length": 4570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.3121G>T",
"hgvs_p": "p.Val1041Leu",
"transcript": "XM_011519209.3",
"protein_id": "XP_011517511.1",
"transcript_support_level": null,
"aa_start": 1041,
"aa_end": null,
"aa_length": 1167,
"cds_start": 3121,
"cds_end": null,
"cds_length": 3504,
"cdna_start": 3136,
"cdna_end": null,
"cdna_length": 4353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
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{
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"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}