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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: 3-62445781-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=62445781&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 62445781,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001438347.1",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3653A>G",
"hgvs_p": "p.Lys1218Arg",
"transcript": "NM_003716.4",
"protein_id": "NP_003707.2",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1353,
"cds_start": 3653,
"cds_end": null,
"cds_length": 4062,
"cdna_start": 4040,
"cdna_end": null,
"cdna_length": 5507,
"mane_select": "ENST00000383710.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003716.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3653A>G",
"hgvs_p": "p.Lys1218Arg",
"transcript": "ENST00000383710.9",
"protein_id": "ENSP00000373215.4",
"transcript_support_level": 1,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1353,
"cds_start": 3653,
"cds_end": null,
"cds_length": 4062,
"cdna_start": 4040,
"cdna_end": null,
"cdna_length": 5507,
"mane_select": "NM_003716.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383710.9"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3626A>G",
"hgvs_p": "p.Lys1209Arg",
"transcript": "ENST00000612439.4",
"protein_id": "ENSP00000484365.1",
"transcript_support_level": 1,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1344,
"cds_start": 3626,
"cds_end": null,
"cds_length": 4035,
"cdna_start": 3986,
"cdna_end": null,
"cdna_length": 5455,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612439.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3536A>G",
"hgvs_p": "p.Lys1179Arg",
"transcript": "ENST00000283269.13",
"protein_id": "ENSP00000283269.9",
"transcript_support_level": 1,
"aa_start": 1179,
"aa_end": null,
"aa_length": 1314,
"cds_start": 3536,
"cds_end": null,
"cds_length": 3945,
"cdna_start": 3748,
"cdna_end": null,
"cdna_length": 4591,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000283269.13"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3416A>G",
"hgvs_p": "p.Lys1139Arg",
"transcript": "ENST00000357948.7",
"protein_id": "ENSP00000350632.3",
"transcript_support_level": 1,
"aa_start": 1139,
"aa_end": null,
"aa_length": 1274,
"cds_start": 3416,
"cds_end": null,
"cds_length": 3825,
"cdna_start": 3725,
"cdna_end": null,
"cdna_length": 5190,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357948.7"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.626A>G",
"hgvs_p": "p.Lys209Arg",
"transcript": "ENST00000473635.5",
"protein_id": "ENSP00000418889.1",
"transcript_support_level": 1,
"aa_start": 209,
"aa_end": null,
"aa_length": 344,
"cds_start": 626,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 2095,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000473635.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3713A>G",
"hgvs_p": "p.Lys1238Arg",
"transcript": "NM_001438347.1",
"protein_id": "NP_001425276.1",
"transcript_support_level": null,
"aa_start": 1238,
"aa_end": null,
"aa_length": 1373,
"cds_start": 3713,
"cds_end": null,
"cds_length": 4122,
"cdna_start": 4100,
"cdna_end": null,
"cdna_length": 5567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438347.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3701A>G",
"hgvs_p": "p.Lys1234Arg",
"transcript": "NM_001438348.1",
"protein_id": "NP_001425277.1",
"transcript_support_level": null,
"aa_start": 1234,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3701,
"cds_end": null,
"cds_length": 4110,
"cdna_start": 4088,
"cdna_end": null,
"cdna_length": 5555,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438348.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3665A>G",
"hgvs_p": "p.Lys1222Arg",
"transcript": "NM_001438349.1",
"protein_id": "NP_001425278.1",
"transcript_support_level": null,
"aa_start": 1222,
"aa_end": null,
"aa_length": 1357,
"cds_start": 3665,
"cds_end": null,
"cds_length": 4074,
"cdna_start": 4052,
"cdna_end": null,
"cdna_length": 5519,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438349.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3632A>G",
"hgvs_p": "p.Lys1211Arg",
"transcript": "ENST00000951695.1",
"protein_id": "ENSP00000621754.1",
"transcript_support_level": null,
"aa_start": 1211,
"aa_end": null,
"aa_length": 1346,
"cds_start": 3632,
"cds_end": null,
"cds_length": 4041,
"cdna_start": 3973,
"cdna_end": null,
"cdna_length": 5433,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951695.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3626A>G",
"hgvs_p": "p.Lys1209Arg",
"transcript": "NM_001437891.1",
"protein_id": "NP_001424820.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1344,
"cds_start": 3626,
"cds_end": null,
"cds_length": 4035,
"cdna_start": 4013,
"cdna_end": null,
"cdna_length": 5480,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437891.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3554A>G",
"hgvs_p": "p.Lys1185Arg",
"transcript": "NM_001438350.1",
"protein_id": "NP_001425279.1",
"transcript_support_level": null,
"aa_start": 1185,
"aa_end": null,
"aa_length": 1320,
"cds_start": 3554,
"cds_end": null,
"cds_length": 3963,
"cdna_start": 3941,
"cdna_end": null,
"cdna_length": 5408,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438350.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3554A>G",
"hgvs_p": "p.Lys1185Arg",
"transcript": "ENST00000951692.1",
"protein_id": "ENSP00000621751.1",
"transcript_support_level": null,
"aa_start": 1185,
"aa_end": null,
"aa_length": 1320,
"cds_start": 3554,
"cds_end": null,
"cds_length": 3963,
"cdna_start": 4088,
"cdna_end": null,
"cdna_length": 5554,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951692.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3551A>G",
"hgvs_p": "p.Lys1184Arg",
"transcript": "ENST00000951696.1",
"protein_id": "ENSP00000621755.1",
"transcript_support_level": null,
"aa_start": 1184,
"aa_end": null,
"aa_length": 1319,
"cds_start": 3551,
"cds_end": null,
"cds_length": 3960,
"cdna_start": 3883,
"cdna_end": null,
"cdna_length": 5351,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951696.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3536A>G",
"hgvs_p": "p.Lys1179Arg",
"transcript": "NM_183394.3",
"protein_id": "NP_899631.1",
"transcript_support_level": null,
"aa_start": 1179,
"aa_end": null,
"aa_length": 1314,
"cds_start": 3536,
"cds_end": null,
"cds_length": 3945,
"cdna_start": 3923,
"cdna_end": null,
"cdna_length": 5390,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183394.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3485A>G",
"hgvs_p": "p.Lys1162Arg",
"transcript": "NM_001438351.1",
"protein_id": "NP_001425280.1",
"transcript_support_level": null,
"aa_start": 1162,
"aa_end": null,
"aa_length": 1297,
"cds_start": 3485,
"cds_end": null,
"cds_length": 3894,
"cdna_start": 3872,
"cdna_end": null,
"cdna_length": 5339,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438351.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3485A>G",
"hgvs_p": "p.Lys1162Arg",
"transcript": "ENST00000951693.1",
"protein_id": "ENSP00000621752.1",
"transcript_support_level": null,
"aa_start": 1162,
"aa_end": null,
"aa_length": 1297,
"cds_start": 3485,
"cds_end": null,
"cds_length": 3894,
"cdna_start": 3851,
"cdna_end": null,
"cdna_length": 5312,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951693.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3482A>G",
"hgvs_p": "p.Lys1161Arg",
"transcript": "ENST00000951694.1",
"protein_id": "ENSP00000621753.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1296,
"cds_start": 3482,
"cds_end": null,
"cds_length": 3891,
"cdna_start": 3842,
"cdna_end": null,
"cdna_length": 5307,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951694.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3467A>G",
"hgvs_p": "p.Lys1156Arg",
"transcript": "NM_001438352.1",
"protein_id": "NP_001425281.1",
"transcript_support_level": null,
"aa_start": 1156,
"aa_end": null,
"aa_length": 1291,
"cds_start": 3467,
"cds_end": null,
"cds_length": 3876,
"cdna_start": 3854,
"cdna_end": null,
"cdna_length": 5321,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438352.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3467A>G",
"hgvs_p": "p.Lys1156Arg",
"transcript": "ENST00000935174.1",
"protein_id": "ENSP00000605233.1",
"transcript_support_level": null,
"aa_start": 1156,
"aa_end": null,
"aa_length": 1291,
"cds_start": 3467,
"cds_end": null,
"cds_length": 3876,
"cdna_start": 3809,
"cdna_end": null,
"cdna_length": 5278,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935174.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3416A>G",
"hgvs_p": "p.Lys1139Arg",
"transcript": "NM_183393.3",
"protein_id": "NP_899630.1",
"transcript_support_level": null,
"aa_start": 1139,
"aa_end": null,
"aa_length": 1274,
"cds_start": 3416,
"cds_end": null,
"cds_length": 3825,
"cdna_start": 3803,
"cdna_end": null,
"cdna_length": 5270,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183393.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3899A>G",
"hgvs_p": "p.Lys1300Arg",
"transcript": "XM_047449093.1",
"protein_id": "XP_047305049.1",
"transcript_support_level": null,
"aa_start": 1300,
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}
],
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}