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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: 9-69237094-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=69237094&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 69237094,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000377245.9",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.2137A>G",
"hgvs_p": "p.Ser713Gly",
"transcript": "NM_004817.4",
"protein_id": "NP_004808.2",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 1190,
"cds_start": 2137,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 2233,
"cdna_end": null,
"cdna_length": 4503,
"mane_select": "ENST00000377245.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.2137A>G",
"hgvs_p": "p.Ser713Gly",
"transcript": "ENST00000377245.9",
"protein_id": "ENSP00000366453.4",
"transcript_support_level": 1,
"aa_start": 713,
"aa_end": null,
"aa_length": 1190,
"cds_start": 2137,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 2233,
"cdna_end": null,
"cdna_length": 4503,
"mane_select": "NM_004817.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285130",
"gene_hgnc_id": null,
"hgvs_c": "c.2524A>G",
"hgvs_p": "p.Ser842Gly",
"transcript": "ENST00000642889.1",
"protein_id": "ENSP00000493780.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 1319,
"cds_start": 2524,
"cds_end": null,
"cds_length": 3960,
"cdna_start": 2557,
"cdna_end": null,
"cdna_length": 4806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.2137A>G",
"hgvs_p": "p.Ser713Gly",
"transcript": "ENST00000348208.9",
"protein_id": "ENSP00000345893.4",
"transcript_support_level": 1,
"aa_start": 713,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2137,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 2233,
"cdna_end": null,
"cdna_length": 4055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "n.2216A>G",
"hgvs_p": null,
"transcript": "ENST00000636247.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.2314A>G",
"hgvs_p": "p.Ser772Gly",
"transcript": "ENST00000636438.1",
"protein_id": "ENSP00000489860.1",
"transcript_support_level": 5,
"aa_start": 772,
"aa_end": null,
"aa_length": 1249,
"cds_start": 2314,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 2428,
"cdna_end": null,
"cdna_length": 4689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.2230A>G",
"hgvs_p": "p.Ser744Gly",
"transcript": "NM_001170416.2",
"protein_id": "NP_001163887.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 1221,
"cds_start": 2230,
"cds_end": null,
"cds_length": 3666,
"cdna_start": 2237,
"cdna_end": null,
"cdna_length": 4503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.2230A>G",
"hgvs_p": "p.Ser744Gly",
"transcript": "ENST00000539225.2",
"protein_id": "ENSP00000438262.1",
"transcript_support_level": 2,
"aa_start": 744,
"aa_end": null,
"aa_length": 1221,
"cds_start": 2230,
"cds_end": null,
"cds_length": 3666,
"cdna_start": 2230,
"cdna_end": null,
"cdna_length": 3838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.2149A>G",
"hgvs_p": "p.Ser717Gly",
"transcript": "NM_001369875.1",
"protein_id": "NP_001356804.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 1194,
"cds_start": 2149,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 2156,
"cdna_end": null,
"cdna_length": 4422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.2140A>G",
"hgvs_p": "p.Ser714Gly",
"transcript": "ENST00000650084.1",
"protein_id": "ENSP00000497861.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 1191,
"cds_start": 2140,
"cds_end": null,
"cds_length": 3576,
"cdna_start": 2140,
"cdna_end": null,
"cdna_length": 4389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.2068A>G",
"hgvs_p": "p.Ser690Gly",
"transcript": "NM_001369871.1",
"protein_id": "NP_001356800.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 1167,
"cds_start": 2068,
"cds_end": null,
"cds_length": 3504,
"cdna_start": 2415,
"cdna_end": null,
"cdna_length": 4681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.2062A>G",
"hgvs_p": "p.Ser688Gly",
"transcript": "NM_001369870.1",
"protein_id": "NP_001356799.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 1165,
"cds_start": 2062,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 2419,
"cdna_end": null,
"cdna_length": 4685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.2149A>G",
"hgvs_p": "p.Ser717Gly",
"transcript": "NM_001170415.1",
"protein_id": "NP_001163886.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 1157,
"cds_start": 2149,
"cds_end": null,
"cds_length": 3474,
"cdna_start": 2300,
"cdna_end": null,
"cdna_length": 4459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.2149A>G",
"hgvs_p": "p.Ser717Gly",
"transcript": "ENST00000535702.6",
"protein_id": "ENSP00000442090.1",
"transcript_support_level": 2,
"aa_start": 717,
"aa_end": null,
"aa_length": 1157,
"cds_start": 2149,
"cds_end": null,
"cds_length": 3474,
"cdna_start": 2513,
"cdna_end": null,
"cdna_length": 3984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.2137A>G",
"hgvs_p": "p.Ser713Gly",
"transcript": "NM_001369872.1",
"protein_id": "NP_001356801.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 1153,
"cds_start": 2137,
"cds_end": null,
"cds_length": 3462,
"cdna_start": 2233,
"cdna_end": null,
"cdna_length": 4388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.2068A>G",
"hgvs_p": "p.Ser690Gly",
"transcript": "ENST00000650333.1",
"protein_id": "ENSP00000496791.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 1128,
"cds_start": 2068,
"cds_end": null,
"cds_length": 3387,
"cdna_start": 2133,
"cdna_end": null,
"cdna_length": 3612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.2137A>G",
"hgvs_p": "p.Ser713Gly",
"transcript": "ENST00000649943.1",
"protein_id": "ENSP00000497539.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 1099,
"cds_start": 2137,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 2228,
"cdna_end": null,
"cdna_length": 5672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.2137A>G",
"hgvs_p": "p.Ser713Gly",
"transcript": "NM_001369873.1",
"protein_id": "NP_001356802.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 1082,
"cds_start": 2137,
"cds_end": null,
"cds_length": 3249,
"cdna_start": 2233,
"cdna_end": null,
"cdna_length": 4175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.2149A>G",
"hgvs_p": "p.Ser717Gly",
"transcript": "NM_001369874.1",
"protein_id": "NP_001356803.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2149,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 2156,
"cdna_end": null,
"cdna_length": 3981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.2149A>G",
"hgvs_p": "p.Ser717Gly",
"transcript": "ENST00000649134.1",
"protein_id": "ENSP00000498068.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2149,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 2156,
"cdna_end": null,
"cdna_length": 3964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.2137A>G",
"hgvs_p": "p.Ser713Gly",
"transcript": "NM_201629.3",
"protein_id": "NP_963923.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2137,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 2455,
"cdna_end": null,
"cdna_length": 4284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.2068A>G",
"hgvs_p": "p.Ser690Gly",
"transcript": "NM_001170414.2",
"protein_id": "NP_001163885.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2068,
"cds_end": null,
"cds_length": 3063,
"cdna_start": 2300,
"cdna_end": null,
"cdna_length": 4129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
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"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
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}
],
"message": null
}