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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: 2-74492157-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=74492157&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 74492157,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_022492.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.947C>T",
"hgvs_p": "p.Ala316Val",
"transcript": "NM_022492.6",
"protein_id": "NP_071937.4",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 519,
"cds_start": 947,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 962,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": "ENST00000233623.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.947C>T",
"hgvs_p": "p.Ala316Val",
"transcript": "ENST00000233623.11",
"protein_id": "ENSP00000233623.6",
"transcript_support_level": 1,
"aa_start": 316,
"aa_end": null,
"aa_length": 519,
"cds_start": 947,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 962,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": "NM_022492.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.947C>T",
"hgvs_p": "p.Ala316Val",
"transcript": "ENST00000410003.5",
"protein_id": "ENSP00000387213.1",
"transcript_support_level": 1,
"aa_start": 316,
"aa_end": null,
"aa_length": 340,
"cds_start": 947,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 3358,
"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": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "n.*487C>T",
"hgvs_p": null,
"transcript": "ENST00000424122.5",
"protein_id": "ENSP00000388495.1",
"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": 2806,
"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": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "n.1010C>T",
"hgvs_p": null,
"transcript": "ENST00000464241.5",
"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": 1562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "n.*487C>T",
"hgvs_p": null,
"transcript": "ENST00000424122.5",
"protein_id": "ENSP00000388495.1",
"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": 2806,
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.832+529C>T",
"hgvs_p": null,
"transcript": "ENST00000442235.6",
"protein_id": "ENSP00000416823.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 285,
"cds_start": -4,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.1001C>T",
"hgvs_p": "p.Ala334Val",
"transcript": "NM_001376129.1",
"protein_id": "NP_001363058.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 537,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 2970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.947C>T",
"hgvs_p": "p.Ala316Val",
"transcript": "NM_001376130.1",
"protein_id": "NP_001363059.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 518,
"cds_start": 947,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 962,
"cdna_end": null,
"cdna_length": 2913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.941C>T",
"hgvs_p": "p.Ala314Val",
"transcript": "NM_001376132.1",
"protein_id": "NP_001363061.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 517,
"cds_start": 941,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 2910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.941C>T",
"hgvs_p": "p.Ala314Val",
"transcript": "NM_001376133.1",
"protein_id": "NP_001363062.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 516,
"cds_start": 941,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 2907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.734C>T",
"hgvs_p": "p.Ala245Val",
"transcript": "NM_001376134.1",
"protein_id": "NP_001363063.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 448,
"cds_start": 734,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 2966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Ala243Val",
"transcript": "NM_001376135.1",
"protein_id": "NP_001363064.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 446,
"cds_start": 728,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 2960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.947C>T",
"hgvs_p": "p.Ala316Val",
"transcript": "NM_001376136.1",
"protein_id": "NP_001363065.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 424,
"cds_start": 947,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 962,
"cdna_end": null,
"cdna_length": 2857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.947C>T",
"hgvs_p": "p.Ala316Val",
"transcript": "NM_001376137.1",
"protein_id": "NP_001363066.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 423,
"cds_start": 947,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 962,
"cdna_end": null,
"cdna_length": 2854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.575C>T",
"hgvs_p": "p.Ala192Val",
"transcript": "NM_001376138.1",
"protein_id": "NP_001363067.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 395,
"cds_start": 575,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 2873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.521C>T",
"hgvs_p": "p.Ala174Val",
"transcript": "NM_001376141.1",
"protein_id": "NP_001363070.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 377,
"cds_start": 521,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 865,
"cdna_end": null,
"cdna_length": 2819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Ala172Val",
"transcript": "NM_001376139.1",
"protein_id": "NP_001363068.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 375,
"cds_start": 515,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 2813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Ala170Val",
"transcript": "NM_001376140.1",
"protein_id": "NP_001363069.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 373,
"cds_start": 509,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 3042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Ala172Val",
"transcript": "NM_001376145.1",
"protein_id": "NP_001363074.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 364,
"cds_start": 515,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 2780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.431C>T",
"hgvs_p": "p.Ala144Val",
"transcript": "NM_001376144.1",
"protein_id": "NP_001363073.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 347,
"cds_start": 431,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 775,
"cdna_end": null,
"cdna_length": 2729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.158C>T",
"hgvs_p": "p.Ala53Val",
"transcript": "ENST00000414247.1",
"protein_id": "ENSP00000387843.1",
"transcript_support_level": 3,
"aa_start": 53,
"aa_end": null,
"aa_length": 245,
"cds_start": 158,
"cds_end": null,
"cds_length": 738,
"cdna_start": 160,
"cdna_end": null,
"cdna_length": 833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.1007C>T",
"hgvs_p": "p.Ala336Val",
"transcript": "XM_011533035.2",
"protein_id": "XP_011531337.1",
"transcript_support_level": null,
"aa_start": 336,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}