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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: 7-51025168-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=51025168&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 51025168,
"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.3709G>A",
"hgvs_p": "p.Ala1237Thr",
"transcript": "NM_015198.5",
"protein_id": "NP_056013.2",
"transcript_support_level": null,
"aa_start": 1237,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3709,
"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.3709G>A",
"hgvs_p": "p.Ala1237Thr",
"transcript": "ENST00000265136.12",
"protein_id": "ENSP00000265136.7",
"transcript_support_level": 1,
"aa_start": 1237,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3709,
"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.3955G>A",
"hgvs_p": "p.Ala1319Thr",
"transcript": "ENST00000431948.6",
"protein_id": "ENSP00000413498.2",
"transcript_support_level": 1,
"aa_start": 1319,
"aa_end": null,
"aa_length": 1343,
"cds_start": 3955,
"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.3739G>A",
"hgvs_p": "p.Ala1247Thr",
"transcript": "ENST00000395542.6",
"protein_id": "ENSP00000378912.3",
"transcript_support_level": 1,
"aa_start": 1247,
"aa_end": null,
"aa_length": 1271,
"cds_start": 3739,
"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.3244G>A",
"hgvs_p": "p.Ala1082Thr",
"transcript": "ENST00000445054.5",
"protein_id": "ENSP00000401204.1",
"transcript_support_level": 1,
"aa_start": 1082,
"aa_end": null,
"aa_length": 1106,
"cds_start": 3244,
"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.7349G>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.3955G>A",
"hgvs_p": "p.Ala1319Thr",
"transcript": "NM_001410881.1",
"protein_id": "NP_001397810.1",
"transcript_support_level": null,
"aa_start": 1319,
"aa_end": null,
"aa_length": 1343,
"cds_start": 3955,
"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.3937G>A",
"hgvs_p": "p.Ala1313Thr",
"transcript": "ENST00000902604.1",
"protein_id": "ENSP00000572663.1",
"transcript_support_level": null,
"aa_start": 1313,
"aa_end": null,
"aa_length": 1337,
"cds_start": 3937,
"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.3862G>A",
"hgvs_p": "p.Ala1288Thr",
"transcript": "ENST00000902602.1",
"protein_id": "ENSP00000572661.1",
"transcript_support_level": null,
"aa_start": 1288,
"aa_end": null,
"aa_length": 1312,
"cds_start": 3862,
"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.3814G>A",
"hgvs_p": "p.Ala1272Thr",
"transcript": "ENST00000902598.1",
"protein_id": "ENSP00000572657.1",
"transcript_support_level": null,
"aa_start": 1272,
"aa_end": null,
"aa_length": 1296,
"cds_start": 3814,
"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.3796G>A",
"hgvs_p": "p.Ala1266Thr",
"transcript": "ENST00000902599.1",
"protein_id": "ENSP00000572658.1",
"transcript_support_level": null,
"aa_start": 1266,
"aa_end": null,
"aa_length": 1290,
"cds_start": 3796,
"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.3784G>A",
"hgvs_p": "p.Ala1262Thr",
"transcript": "ENST00000902601.1",
"protein_id": "ENSP00000572660.1",
"transcript_support_level": null,
"aa_start": 1262,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3784,
"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.3754G>A",
"hgvs_p": "p.Ala1252Thr",
"transcript": "ENST00000961292.1",
"protein_id": "ENSP00000631351.1",
"transcript_support_level": null,
"aa_start": 1252,
"aa_end": null,
"aa_length": 1276,
"cds_start": 3754,
"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.3739G>A",
"hgvs_p": "p.Ala1247Thr",
"transcript": "NM_001287436.3",
"protein_id": "NP_001274365.1",
"transcript_support_level": null,
"aa_start": 1247,
"aa_end": null,
"aa_length": 1271,
"cds_start": 3739,
"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.3721G>A",
"hgvs_p": "p.Ala1241Thr",
"transcript": "ENST00000902597.1",
"protein_id": "ENSP00000572656.1",
"transcript_support_level": null,
"aa_start": 1241,
"aa_end": null,
"aa_length": 1265,
"cds_start": 3721,
"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.3613G>A",
"hgvs_p": "p.Ala1205Thr",
"transcript": "ENST00000961289.1",
"protein_id": "ENSP00000631348.1",
"transcript_support_level": null,
"aa_start": 1205,
"aa_end": null,
"aa_length": 1229,
"cds_start": 3613,
"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.3568G>A",
"hgvs_p": "p.Ala1190Thr",
"transcript": "NM_001346442.2",
"protein_id": "NP_001333371.1",
"transcript_support_level": null,
"aa_start": 1190,
"aa_end": null,
"aa_length": 1214,
"cds_start": 3568,
"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.3568G>A",
"hgvs_p": "p.Ala1190Thr",
"transcript": "ENST00000902594.1",
"protein_id": "ENSP00000572653.1",
"transcript_support_level": null,
"aa_start": 1190,
"aa_end": null,
"aa_length": 1214,
"cds_start": 3568,
"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.3535G>A",
"hgvs_p": "p.Ala1179Thr",
"transcript": "ENST00000902596.1",
"protein_id": "ENSP00000572655.1",
"transcript_support_level": null,
"aa_start": 1179,
"aa_end": null,
"aa_length": 1203,
"cds_start": 3535,
"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.3394G>A",
"hgvs_p": "p.Ala1132Thr",
"transcript": "ENST00000902603.1",
"protein_id": "ENSP00000572662.1",
"transcript_support_level": null,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1156,
"cds_start": 3394,
"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.4000G>A",
"hgvs_p": "p.Ala1334Thr",
"transcript": "XM_011515234.1",
"protein_id": "XP_011513536.1",
"transcript_support_level": null,
"aa_start": 1334,
"aa_end": null,
"aa_length": 1358,
"cds_start": 4000,
"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.3925G>A",
"hgvs_p": "p.Ala1309Thr",
"transcript": "XM_005271750.1",
"protein_id": "XP_005271807.1",
"transcript_support_level": null,
"aa_start": 1309,
"aa_end": null,
"aa_length": 1333,
"cds_start": 3925,
"cds_end": null,
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"phenotype_combined": "not specified",
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}
],
"message": null
}