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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: 3-193643607-CCAT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=193643607&ref=CCAT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 193643607,
"ref": "CCAT",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_130837.3",
"consequences": [
{
"aa_ref": "II",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1461_1463delCAT",
"hgvs_p": "p.Ile488del",
"transcript": "NM_130837.3",
"protein_id": "NP_570850.2",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 1015,
"cds_start": 1461,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 1631,
"cdna_end": null,
"cdna_length": 6429,
"mane_select": "ENST00000361510.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_130837.3"
},
{
"aa_ref": "II",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1461_1463delCAT",
"hgvs_p": "p.Ile488del",
"transcript": "ENST00000361510.8",
"protein_id": "ENSP00000355324.2",
"transcript_support_level": 5,
"aa_start": 487,
"aa_end": null,
"aa_length": 1015,
"cds_start": 1461,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 1631,
"cdna_end": null,
"cdna_length": 6429,
"mane_select": "NM_130837.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361510.8"
},
{
"aa_ref": "II",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1407_1409delCAT",
"hgvs_p": "p.Ile470del",
"transcript": "ENST00000361908.8",
"protein_id": "ENSP00000354681.3",
"transcript_support_level": 1,
"aa_start": 469,
"aa_end": null,
"aa_length": 997,
"cds_start": 1407,
"cds_end": null,
"cds_length": 2994,
"cdna_start": 1599,
"cdna_end": null,
"cdna_length": 6397,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361908.8"
},
{
"aa_ref": "II",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1476_1478delCAT",
"hgvs_p": "p.Ile493del",
"transcript": "ENST00000968586.1",
"protein_id": "ENSP00000638645.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 1020,
"cds_start": 1476,
"cds_end": null,
"cds_length": 3063,
"cdna_start": 1636,
"cdna_end": null,
"cdna_length": 3344,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968586.1"
},
{
"aa_ref": "II",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1422_1424delCAT",
"hgvs_p": "p.Ile475del",
"transcript": "ENST00000968584.1",
"protein_id": "ENSP00000638643.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 1002,
"cds_start": 1422,
"cds_end": null,
"cds_length": 3009,
"cdna_start": 1591,
"cdna_end": null,
"cdna_length": 3586,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968584.1"
},
{
"aa_ref": "II",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1407_1409delCAT",
"hgvs_p": "p.Ile470del",
"transcript": "NM_130836.3",
"protein_id": "NP_570849.2",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 997,
"cds_start": 1407,
"cds_end": null,
"cds_length": 2994,
"cdna_start": 1577,
"cdna_end": null,
"cdna_length": 6375,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_130836.3"
},
{
"aa_ref": "II",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1407_1409delCAT",
"hgvs_p": "p.Ile470del",
"transcript": "ENST00000890753.1",
"protein_id": "ENSP00000560812.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 997,
"cds_start": 1407,
"cds_end": null,
"cds_length": 2994,
"cdna_start": 1577,
"cdna_end": null,
"cdna_length": 4345,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890753.1"
},
{
"aa_ref": "II",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1407_1409delCAT",
"hgvs_p": "p.Ile470del",
"transcript": "ENST00000925500.1",
"protein_id": "ENSP00000595559.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 997,
"cds_start": 1407,
"cds_end": null,
"cds_length": 2994,
"cdna_start": 1591,
"cdna_end": null,
"cdna_length": 6389,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925500.1"
},
{
"aa_ref": "II",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1353_1355delCAT",
"hgvs_p": "p.Ile452del",
"transcript": "NM_130835.3",
"protein_id": "NP_570848.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 979,
"cds_start": 1353,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 1523,
"cdna_end": null,
"cdna_length": 6321,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_130835.3"
},
{
"aa_ref": "II",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1353_1355delCAT",
"hgvs_p": "p.Ile452del",
"transcript": "ENST00000361715.6",
"protein_id": "ENSP00000355311.2",
"transcript_support_level": 5,
"aa_start": 451,
"aa_end": null,
"aa_length": 979,
"cds_start": 1353,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 1587,
"cdna_end": null,
"cdna_length": 6384,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361715.6"
},
{
"aa_ref": "II",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1299_1301delCAT",
"hgvs_p": "p.Ile434del",
"transcript": "ENST00000890756.1",
"protein_id": "ENSP00000560815.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 979,
"cds_start": 1299,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 1437,
"cdna_end": null,
"cdna_length": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890756.1"
},
{
"aa_ref": "II",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1353_1355delCAT",
"hgvs_p": "p.Ile452del",
"transcript": "ENST00000968579.1",
"protein_id": "ENSP00000638638.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 979,
"cds_start": 1353,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 1524,
"cdna_end": null,
"cdna_length": 6035,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968579.1"
},
{
"aa_ref": "II",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1350_1352delCAT",
"hgvs_p": "p.Ile451del",
"transcript": "NM_130834.3",
"protein_id": "NP_570847.2",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 978,
"cds_start": 1350,
"cds_end": null,
"cds_length": 2937,
"cdna_start": 1520,
"cdna_end": null,
"cdna_length": 6318,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_130834.3"
},
{
"aa_ref": "II",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1350_1352delCAT",
"hgvs_p": "p.Ile451del",
"transcript": "ENST00000392437.6",
"protein_id": "ENSP00000376232.2",
"transcript_support_level": 3,
"aa_start": 450,
"aa_end": null,
"aa_length": 978,
"cds_start": 1350,
"cds_end": null,
"cds_length": 2937,
"cdna_start": 1448,
"cdna_end": null,
"cdna_length": 4087,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392437.6"
},
{
"aa_ref": "II",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1296_1298delCAT",
"hgvs_p": "p.Ile433del",
"transcript": "ENST00000890755.1",
"protein_id": "ENSP00000560814.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 978,
"cds_start": 1296,
"cds_end": null,
"cds_length": 2937,
"cdna_start": 1466,
"cdna_end": null,
"cdna_length": 3564,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890755.1"
},
{
"aa_ref": "II",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1341_1343delCAT",
"hgvs_p": "p.Ile448del",
"transcript": "ENST00000890757.1",
"protein_id": "ENSP00000560816.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 975,
"cds_start": 1341,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 1489,
"cdna_end": null,
"cdna_length": 3077,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890757.1"
},
{
"aa_ref": "II",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1296_1298delCAT",
"hgvs_p": "p.Ile433del",
"transcript": "ENST00000392436.7",
"protein_id": "ENSP00000376231.3",
"transcript_support_level": 3,
"aa_start": 432,
"aa_end": null,
"aa_length": 972,
"cds_start": 1296,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 1454,
"cdna_end": null,
"cdna_length": 3579,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392436.7"
},
{
"aa_ref": "II",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1461_1463delCAT",
"hgvs_p": "p.Ile488del",
"transcript": "ENST00000968581.1",
"protein_id": "ENSP00000638640.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 968,
"cds_start": 1461,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 1648,
"cdna_end": null,
"cdna_length": 4261,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968581.1"
},
{
"aa_ref": "II",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1311_1313delCAT",
"hgvs_p": "p.Ile438del",
"transcript": "ENST00000645553.1",
"protein_id": "ENSP00000494725.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 965,
"cds_start": 1311,
"cds_end": null,
"cds_length": 2898,
"cdna_start": 1402,
"cdna_end": null,
"cdna_length": 5008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645553.1"
},
{
"aa_ref": "II",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1299_1301delCAT",
"hgvs_p": "p.Ile434del",
"transcript": "NM_130833.3",
"protein_id": "NP_570846.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 961,
"cds_start": 1299,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 1469,
"cdna_end": null,
"cdna_length": 6267,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_130833.3"
},
{
"aa_ref": "II",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.1299_1301delCAT",
"hgvs_p": "p.Ile434del",
"transcript": "ENST00000361150.6",
"protein_id": "ENSP00000354781.2",
"transcript_support_level": 5,
"aa_start": 433,
"aa_end": null,
"aa_length": 961,
"cds_start": 1299,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 1533,
"cdna_end": null,
"cdna_length": 6330,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361150.6"
},
{
"aa_ref": "II",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
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}
],
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}