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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: 17-40628786-T-TAAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=40628786&ref=T&alt=TAAA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 40628786,
"ref": "T",
"alt": "TAAA",
"effect": "conservative_inframe_insertion",
"transcript": "NM_003079.5",
"consequences": [
{
"aa_ref": "*",
"aa_alt": "F*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.1234_1235insTTT",
"hgvs_p": "p.Glu411_Ter412insPhe",
"transcript": "NM_003079.5",
"protein_id": "NP_003070.3",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 411,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000348513.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003079.5"
},
{
"aa_ref": "*",
"aa_alt": "F*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.1234_1235insTTT",
"hgvs_p": "p.Glu411_Ter412insPhe",
"transcript": "ENST00000348513.12",
"protein_id": "ENSP00000323967.6",
"transcript_support_level": 1,
"aa_start": 412,
"aa_end": null,
"aa_length": 411,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003079.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348513.12"
},
{
"aa_ref": "*",
"aa_alt": "F*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.1024_1025insTTT",
"hgvs_p": "p.Glu341_Ter342insPhe",
"transcript": "ENST00000578044.6",
"protein_id": "ENSP00000464511.1",
"transcript_support_level": 1,
"aa_start": 342,
"aa_end": null,
"aa_length": 341,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000578044.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.*221_*222insTTT",
"hgvs_p": null,
"transcript": "ENST00000377808.9",
"protein_id": "ENSP00000367039.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 328,
"cds_start": null,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377808.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.*213_*214insTTT",
"hgvs_p": null,
"transcript": "ENST00000580419.6",
"protein_id": "ENSP00000462475.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 311,
"cds_start": null,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580419.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.*221_*222insTTT",
"hgvs_p": null,
"transcript": "ENST00000400122.8",
"protein_id": "ENSP00000411607.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": null,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400122.8"
},
{
"aa_ref": "*",
"aa_alt": "F*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.1270_1271insTTT",
"hgvs_p": "p.Glu423_Ter424insPhe",
"transcript": "ENST00000924673.1",
"protein_id": "ENSP00000594732.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 423,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924673.1"
},
{
"aa_ref": "*",
"aa_alt": "F*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.1234_1235insTTT",
"hgvs_p": "p.Glu411_Ter412insPhe",
"transcript": "ENST00000643683.1",
"protein_id": "ENSP00000496094.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 411,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643683.1"
},
{
"aa_ref": "*",
"aa_alt": "F*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.1234_1235insTTT",
"hgvs_p": "p.Glu411_Ter412insPhe",
"transcript": "ENST00000951586.1",
"protein_id": "ENSP00000621645.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 411,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951586.1"
},
{
"aa_ref": "*",
"aa_alt": "F*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.1180_1181insTTT",
"hgvs_p": "p.Glu393_Ter394insPhe",
"transcript": "ENST00000431889.6",
"protein_id": "ENSP00000445370.1",
"transcript_support_level": 2,
"aa_start": 394,
"aa_end": null,
"aa_length": 393,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431889.6"
},
{
"aa_ref": "*",
"aa_alt": "F*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.1129_1130insTTT",
"hgvs_p": "p.Glu376_Ter377insPhe",
"transcript": "ENST00000647508.1",
"protein_id": "ENSP00000496445.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 376,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647508.1"
},
{
"aa_ref": "*",
"aa_alt": "F*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.1042_1043insTTT",
"hgvs_p": "p.Glu347_Ter348insPhe",
"transcript": "ENST00000646283.1",
"protein_id": "ENSP00000494537.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 347,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646283.1"
},
{
"aa_ref": "*",
"aa_alt": "F*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.1024_1025insTTT",
"hgvs_p": "p.Glu341_Ter342insPhe",
"transcript": "ENST00000643318.1",
"protein_id": "ENSP00000494771.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 341,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643318.1"
},
{
"aa_ref": "*",
"aa_alt": "F*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.1006_1007insTTT",
"hgvs_p": "p.Glu335_Ter336insPhe",
"transcript": "ENST00000644527.1",
"protein_id": "ENSP00000493974.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 335,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644527.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.*796_*797insTTT",
"hgvs_p": null,
"transcript": "ENST00000264640.9",
"protein_id": "ENSP00000466608.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 363,
"cds_start": null,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264640.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.*221_*222insTTT",
"hgvs_p": null,
"transcript": "ENST00000644701.1",
"protein_id": "ENSP00000496097.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 363,
"cds_start": null,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644701.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.*765_*766insTTT",
"hgvs_p": null,
"transcript": "ENST00000647515.1",
"protein_id": "ENSP00000495857.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 277,
"cds_start": null,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647515.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "n.1832_1833insTTT",
"hgvs_p": null,
"transcript": "ENST00000469334.6",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000469334.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "n.*1031_*1032insTTT",
"hgvs_p": null,
"transcript": "ENST00000578112.6",
"protein_id": "ENSP00000464501.1",
"transcript_support_level": 5,
"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": "ENST00000578112.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "n.2377_2378insTTT",
"hgvs_p": null,
"transcript": "ENST00000642576.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000642576.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "n.1857_1858insTTT",
"hgvs_p": null,
"transcript": "ENST00000643030.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000643030.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000264058",
"gene_hgnc_id": null,
"hgvs_c": "n.*3298_*3299insTTT",
"hgvs_p": null,
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{
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"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}