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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: 3-62403173-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=62403173&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 62403173,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001438347.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3790A>C",
"hgvs_p": "p.Ser1264Arg",
"transcript": "NM_003716.4",
"protein_id": "NP_003707.2",
"transcript_support_level": null,
"aa_start": 1264,
"aa_end": null,
"aa_length": 1353,
"cds_start": 3790,
"cds_end": null,
"cds_length": 4062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000383710.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003716.4"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3790A>C",
"hgvs_p": "p.Ser1264Arg",
"transcript": "ENST00000383710.9",
"protein_id": "ENSP00000373215.4",
"transcript_support_level": 1,
"aa_start": 1264,
"aa_end": null,
"aa_length": 1353,
"cds_start": 3790,
"cds_end": null,
"cds_length": 4062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003716.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383710.9"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3763A>C",
"hgvs_p": "p.Ser1255Arg",
"transcript": "ENST00000612439.4",
"protein_id": "ENSP00000484365.1",
"transcript_support_level": 1,
"aa_start": 1255,
"aa_end": null,
"aa_length": 1344,
"cds_start": 3763,
"cds_end": null,
"cds_length": 4035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612439.4"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3673A>C",
"hgvs_p": "p.Ser1225Arg",
"transcript": "ENST00000283269.13",
"protein_id": "ENSP00000283269.9",
"transcript_support_level": 1,
"aa_start": 1225,
"aa_end": null,
"aa_length": 1314,
"cds_start": 3673,
"cds_end": null,
"cds_length": 3945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000283269.13"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3553A>C",
"hgvs_p": "p.Ser1185Arg",
"transcript": "ENST00000357948.7",
"protein_id": "ENSP00000350632.3",
"transcript_support_level": 1,
"aa_start": 1185,
"aa_end": null,
"aa_length": 1274,
"cds_start": 3553,
"cds_end": null,
"cds_length": 3825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357948.7"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.763A>C",
"hgvs_p": "p.Ser255Arg",
"transcript": "ENST00000473635.5",
"protein_id": "ENSP00000418889.1",
"transcript_support_level": 1,
"aa_start": 255,
"aa_end": null,
"aa_length": 344,
"cds_start": 763,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000473635.5"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3850A>C",
"hgvs_p": "p.Ser1284Arg",
"transcript": "NM_001438347.1",
"protein_id": "NP_001425276.1",
"transcript_support_level": null,
"aa_start": 1284,
"aa_end": null,
"aa_length": 1373,
"cds_start": 3850,
"cds_end": null,
"cds_length": 4122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438347.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3838A>C",
"hgvs_p": "p.Ser1280Arg",
"transcript": "NM_001438348.1",
"protein_id": "NP_001425277.1",
"transcript_support_level": null,
"aa_start": 1280,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3838,
"cds_end": null,
"cds_length": 4110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438348.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3802A>C",
"hgvs_p": "p.Ser1268Arg",
"transcript": "NM_001438349.1",
"protein_id": "NP_001425278.1",
"transcript_support_level": null,
"aa_start": 1268,
"aa_end": null,
"aa_length": 1357,
"cds_start": 3802,
"cds_end": null,
"cds_length": 4074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438349.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3769A>C",
"hgvs_p": "p.Ser1257Arg",
"transcript": "ENST00000951695.1",
"protein_id": "ENSP00000621754.1",
"transcript_support_level": null,
"aa_start": 1257,
"aa_end": null,
"aa_length": 1346,
"cds_start": 3769,
"cds_end": null,
"cds_length": 4041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951695.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3763A>C",
"hgvs_p": "p.Ser1255Arg",
"transcript": "NM_001437891.1",
"protein_id": "NP_001424820.1",
"transcript_support_level": null,
"aa_start": 1255,
"aa_end": null,
"aa_length": 1344,
"cds_start": 3763,
"cds_end": null,
"cds_length": 4035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437891.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3691A>C",
"hgvs_p": "p.Ser1231Arg",
"transcript": "NM_001438350.1",
"protein_id": "NP_001425279.1",
"transcript_support_level": null,
"aa_start": 1231,
"aa_end": null,
"aa_length": 1320,
"cds_start": 3691,
"cds_end": null,
"cds_length": 3963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438350.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3691A>C",
"hgvs_p": "p.Ser1231Arg",
"transcript": "ENST00000951692.1",
"protein_id": "ENSP00000621751.1",
"transcript_support_level": null,
"aa_start": 1231,
"aa_end": null,
"aa_length": 1320,
"cds_start": 3691,
"cds_end": null,
"cds_length": 3963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951692.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3688A>C",
"hgvs_p": "p.Ser1230Arg",
"transcript": "ENST00000951696.1",
"protein_id": "ENSP00000621755.1",
"transcript_support_level": null,
"aa_start": 1230,
"aa_end": null,
"aa_length": 1319,
"cds_start": 3688,
"cds_end": null,
"cds_length": 3960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951696.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3673A>C",
"hgvs_p": "p.Ser1225Arg",
"transcript": "NM_183394.3",
"protein_id": "NP_899631.1",
"transcript_support_level": null,
"aa_start": 1225,
"aa_end": null,
"aa_length": 1314,
"cds_start": 3673,
"cds_end": null,
"cds_length": 3945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183394.3"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3622A>C",
"hgvs_p": "p.Ser1208Arg",
"transcript": "NM_001438351.1",
"protein_id": "NP_001425280.1",
"transcript_support_level": null,
"aa_start": 1208,
"aa_end": null,
"aa_length": 1297,
"cds_start": 3622,
"cds_end": null,
"cds_length": 3894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438351.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3622A>C",
"hgvs_p": "p.Ser1208Arg",
"transcript": "ENST00000951693.1",
"protein_id": "ENSP00000621752.1",
"transcript_support_level": null,
"aa_start": 1208,
"aa_end": null,
"aa_length": 1297,
"cds_start": 3622,
"cds_end": null,
"cds_length": 3894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951693.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3619A>C",
"hgvs_p": "p.Ser1207Arg",
"transcript": "ENST00000951694.1",
"protein_id": "ENSP00000621753.1",
"transcript_support_level": null,
"aa_start": 1207,
"aa_end": null,
"aa_length": 1296,
"cds_start": 3619,
"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": "ENST00000951694.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3604A>C",
"hgvs_p": "p.Ser1202Arg",
"transcript": "NM_001438352.1",
"protein_id": "NP_001425281.1",
"transcript_support_level": null,
"aa_start": 1202,
"aa_end": null,
"aa_length": 1291,
"cds_start": 3604,
"cds_end": null,
"cds_length": 3876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438352.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3604A>C",
"hgvs_p": "p.Ser1202Arg",
"transcript": "ENST00000935174.1",
"protein_id": "ENSP00000605233.1",
"transcript_support_level": null,
"aa_start": 1202,
"aa_end": null,
"aa_length": 1291,
"cds_start": 3604,
"cds_end": null,
"cds_length": 3876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935174.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.3553A>C",
"hgvs_p": "p.Ser1185Arg",
"transcript": "NM_183393.3",
"protein_id": "NP_899630.1",
"transcript_support_level": null,
"aa_start": 1185,
"aa_end": null,
"aa_length": 1274,
"cds_start": 3553,
"cds_end": null,
"cds_length": 3825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183393.3"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.490A>C",
"hgvs_p": "p.Ser164Arg",
"transcript": "ENST00000466621.2",
"protein_id": "ENSP00000417568.2",
"transcript_support_level": 4,
"aa_start": 164,
"aa_end": null,
"aa_length": 188,
"cds_start": 490,
"cds_end": null,
"cds_length": 569,
"cdna_start": null,
"cdna_end": null,
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