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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: 7-51025174-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=51025174&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 51025174,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001410881.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3703G>A",
"hgvs_p": "p.Ala1235Thr",
"transcript": "NM_015198.5",
"protein_id": "NP_056013.2",
"transcript_support_level": null,
"aa_start": 1235,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3703,
"cds_end": null,
"cds_length": 3786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265136.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015198.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3703G>A",
"hgvs_p": "p.Ala1235Thr",
"transcript": "ENST00000265136.12",
"protein_id": "ENSP00000265136.7",
"transcript_support_level": 1,
"aa_start": 1235,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3703,
"cds_end": null,
"cds_length": 3786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015198.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265136.12"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3949G>A",
"hgvs_p": "p.Ala1317Thr",
"transcript": "ENST00000431948.6",
"protein_id": "ENSP00000413498.2",
"transcript_support_level": 1,
"aa_start": 1317,
"aa_end": null,
"aa_length": 1343,
"cds_start": 3949,
"cds_end": null,
"cds_length": 4032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431948.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3733G>A",
"hgvs_p": "p.Ala1245Thr",
"transcript": "ENST00000395542.6",
"protein_id": "ENSP00000378912.3",
"transcript_support_level": 1,
"aa_start": 1245,
"aa_end": null,
"aa_length": 1271,
"cds_start": 3733,
"cds_end": null,
"cds_length": 3816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395542.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3238G>A",
"hgvs_p": "p.Ala1080Thr",
"transcript": "ENST00000445054.5",
"protein_id": "ENSP00000401204.1",
"transcript_support_level": 1,
"aa_start": 1080,
"aa_end": null,
"aa_length": 1106,
"cds_start": 3238,
"cds_end": null,
"cds_length": 3321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445054.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "n.7343G>A",
"hgvs_p": null,
"transcript": "ENST00000462395.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000462395.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3949G>A",
"hgvs_p": "p.Ala1317Thr",
"transcript": "NM_001410881.1",
"protein_id": "NP_001397810.1",
"transcript_support_level": null,
"aa_start": 1317,
"aa_end": null,
"aa_length": 1343,
"cds_start": 3949,
"cds_end": null,
"cds_length": 4032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410881.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3931G>A",
"hgvs_p": "p.Ala1311Thr",
"transcript": "ENST00000902604.1",
"protein_id": "ENSP00000572663.1",
"transcript_support_level": null,
"aa_start": 1311,
"aa_end": null,
"aa_length": 1337,
"cds_start": 3931,
"cds_end": null,
"cds_length": 4014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902604.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3856G>A",
"hgvs_p": "p.Ala1286Thr",
"transcript": "ENST00000902602.1",
"protein_id": "ENSP00000572661.1",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1312,
"cds_start": 3856,
"cds_end": null,
"cds_length": 3939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902602.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3808G>A",
"hgvs_p": "p.Ala1270Thr",
"transcript": "ENST00000902598.1",
"protein_id": "ENSP00000572657.1",
"transcript_support_level": null,
"aa_start": 1270,
"aa_end": null,
"aa_length": 1296,
"cds_start": 3808,
"cds_end": null,
"cds_length": 3891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902598.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3790G>A",
"hgvs_p": "p.Ala1264Thr",
"transcript": "ENST00000902599.1",
"protein_id": "ENSP00000572658.1",
"transcript_support_level": null,
"aa_start": 1264,
"aa_end": null,
"aa_length": 1290,
"cds_start": 3790,
"cds_end": null,
"cds_length": 3873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902599.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3778G>A",
"hgvs_p": "p.Ala1260Thr",
"transcript": "ENST00000902601.1",
"protein_id": "ENSP00000572660.1",
"transcript_support_level": null,
"aa_start": 1260,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3778,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902601.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3748G>A",
"hgvs_p": "p.Ala1250Thr",
"transcript": "ENST00000961292.1",
"protein_id": "ENSP00000631351.1",
"transcript_support_level": null,
"aa_start": 1250,
"aa_end": null,
"aa_length": 1276,
"cds_start": 3748,
"cds_end": null,
"cds_length": 3831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961292.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3733G>A",
"hgvs_p": "p.Ala1245Thr",
"transcript": "NM_001287436.3",
"protein_id": "NP_001274365.1",
"transcript_support_level": null,
"aa_start": 1245,
"aa_end": null,
"aa_length": 1271,
"cds_start": 3733,
"cds_end": null,
"cds_length": 3816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287436.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3715G>A",
"hgvs_p": "p.Ala1239Thr",
"transcript": "ENST00000902597.1",
"protein_id": "ENSP00000572656.1",
"transcript_support_level": null,
"aa_start": 1239,
"aa_end": null,
"aa_length": 1265,
"cds_start": 3715,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902597.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3607G>A",
"hgvs_p": "p.Ala1203Thr",
"transcript": "ENST00000961289.1",
"protein_id": "ENSP00000631348.1",
"transcript_support_level": null,
"aa_start": 1203,
"aa_end": null,
"aa_length": 1229,
"cds_start": 3607,
"cds_end": null,
"cds_length": 3690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961289.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3562G>A",
"hgvs_p": "p.Ala1188Thr",
"transcript": "NM_001346442.2",
"protein_id": "NP_001333371.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1214,
"cds_start": 3562,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346442.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3562G>A",
"hgvs_p": "p.Ala1188Thr",
"transcript": "ENST00000902594.1",
"protein_id": "ENSP00000572653.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1214,
"cds_start": 3562,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902594.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3529G>A",
"hgvs_p": "p.Ala1177Thr",
"transcript": "ENST00000902596.1",
"protein_id": "ENSP00000572655.1",
"transcript_support_level": null,
"aa_start": 1177,
"aa_end": null,
"aa_length": 1203,
"cds_start": 3529,
"cds_end": null,
"cds_length": 3612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902596.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3388G>A",
"hgvs_p": "p.Ala1130Thr",
"transcript": "ENST00000902603.1",
"protein_id": "ENSP00000572662.1",
"transcript_support_level": null,
"aa_start": 1130,
"aa_end": null,
"aa_length": 1156,
"cds_start": 3388,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902603.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3994G>A",
"hgvs_p": "p.Ala1332Thr",
"transcript": "XM_011515234.1",
"protein_id": "XP_011513536.1",
"transcript_support_level": null,
"aa_start": 1332,
"aa_end": null,
"aa_length": 1358,
"cds_start": 3994,
"cds_end": null,
"cds_length": 4077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515234.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3919G>A",
"hgvs_p": "p.Ala1307Thr",
"transcript": "XM_005271750.1",
"protein_id": "XP_005271807.1",
"transcript_support_level": null,
"aa_start": 1307,
"aa_end": null,
"aa_length": 1333,
"cds_start": 3919,
"cds_end": null,
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}
],
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}