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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: 11-61528014-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61528014&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 61528014,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001365809.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Val458Ile",
"transcript": "NM_001365809.2",
"protein_id": "NP_001352738.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 686,
"cds_start": 1372,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 7230,
"mane_select": "ENST00000539008.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365809.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Val458Ile",
"transcript": "ENST00000539008.6",
"protein_id": "ENSP00000439694.1",
"transcript_support_level": 5,
"aa_start": 458,
"aa_end": null,
"aa_length": 686,
"cds_start": 1372,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 7230,
"mane_select": "NM_001365809.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539008.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.748G>A",
"hgvs_p": "p.Val250Ile",
"transcript": "ENST00000540677.5",
"protein_id": "ENSP00000444201.1",
"transcript_support_level": 1,
"aa_start": 250,
"aa_end": null,
"aa_length": 478,
"cds_start": 748,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 754,
"cdna_end": null,
"cdna_length": 2013,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540677.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Val175Ile",
"transcript": "ENST00000263846.8",
"protein_id": "ENSP00000263846.4",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 403,
"cds_start": 523,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 851,
"cdna_end": null,
"cdna_length": 4854,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263846.8"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Val383Ile",
"transcript": "ENST00000542670.5",
"protein_id": "ENSP00000444019.1",
"transcript_support_level": 5,
"aa_start": 383,
"aa_end": null,
"aa_length": 611,
"cds_start": 1147,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 1887,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542670.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.880G>A",
"hgvs_p": "p.Val294Ile",
"transcript": "NM_001411007.1",
"protein_id": "NP_001397936.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 522,
"cds_start": 880,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 6738,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411007.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.880G>A",
"hgvs_p": "p.Val294Ile",
"transcript": "ENST00000535826.5",
"protein_id": "ENSP00000437720.1",
"transcript_support_level": 5,
"aa_start": 294,
"aa_end": null,
"aa_length": 522,
"cds_start": 880,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 932,
"cdna_end": null,
"cdna_length": 1621,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535826.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Val263Ile",
"transcript": "ENST00000968863.1",
"protein_id": "ENSP00000638922.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 491,
"cds_start": 787,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1064,
"cdna_end": null,
"cdna_length": 2297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968863.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Val271Ile",
"transcript": "NM_001370210.1",
"protein_id": "NP_001357139.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 479,
"cds_start": 811,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 974,
"cdna_end": null,
"cdna_length": 2547,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370210.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.748G>A",
"hgvs_p": "p.Val250Ile",
"transcript": "NM_001252065.2",
"protein_id": "NP_001238994.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 478,
"cds_start": 748,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 6606,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001252065.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Val219Ile",
"transcript": "NM_001300773.2",
"protein_id": "NP_001287702.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 447,
"cds_start": 655,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 911,
"cdna_end": null,
"cdna_length": 6513,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300773.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Val219Ile",
"transcript": "ENST00000542836.5",
"protein_id": "ENSP00000444568.1",
"transcript_support_level": 5,
"aa_start": 219,
"aa_end": null,
"aa_length": 447,
"cds_start": 655,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 1362,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542836.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Val219Ile",
"transcript": "ENST00000933166.1",
"protein_id": "ENSP00000603225.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 447,
"cds_start": 655,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 5005,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933166.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Val175Ile",
"transcript": "NM_004200.4",
"protein_id": "NP_004191.2",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 403,
"cds_start": 523,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 779,
"cdna_end": null,
"cdna_length": 6381,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004200.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Val175Ile",
"transcript": "NM_001370211.1",
"protein_id": "NP_001357140.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 383,
"cds_start": 523,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 779,
"cdna_end": null,
"cdna_length": 2352,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370211.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.430G>A",
"hgvs_p": "p.Val144Ile",
"transcript": "ENST00000933167.1",
"protein_id": "ENSP00000603226.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 372,
"cds_start": 430,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 4520,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933167.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Val175Ile",
"transcript": "ENST00000545053.1",
"protein_id": "ENSP00000443576.1",
"transcript_support_level": 2,
"aa_start": 175,
"aa_end": null,
"aa_length": 174,
"cds_start": 523,
"cds_end": null,
"cds_length": 526,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 578,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545053.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.1390G>A",
"hgvs_p": "p.Val464Ile",
"transcript": "XM_011545335.3",
"protein_id": "XP_011543637.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 692,
"cds_start": 1390,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1449,
"cdna_end": null,
"cdna_length": 7051,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545335.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Val423Ile",
"transcript": "XM_011545336.3",
"protein_id": "XP_011543638.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 651,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1326,
"cdna_end": null,
"cdna_length": 6928,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545336.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Val420Ile",
"transcript": "XM_011545337.3",
"protein_id": "XP_011543639.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 648,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1317,
"cdna_end": null,
"cdna_length": 6919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545337.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.1240G>A",
"hgvs_p": "p.Val414Ile",
"transcript": "XM_005274384.3",
"protein_id": "XP_005274441.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 642,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 7098,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005274384.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.1165G>A",
"hgvs_p": "p.Val389Ile",
"transcript": "XM_011545338.3",
"protein_id": "XP_011543640.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 617,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1224,
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"phenotype_combined": "not specified",
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}
],
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}