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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: 1-243142447-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=243142447&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 243142447,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014812.3",
"consequences": [
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.3928G>A",
"hgvs_p": "p.Ala1310Thr",
"transcript": "NM_014812.3",
"protein_id": "NP_055627.2",
"transcript_support_level": null,
"aa_start": 1310,
"aa_end": null,
"aa_length": 1584,
"cds_start": 3928,
"cds_end": null,
"cds_length": 4755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366542.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014812.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.3928G>A",
"hgvs_p": "p.Ala1310Thr",
"transcript": "ENST00000366542.6",
"protein_id": "ENSP00000355500.1",
"transcript_support_level": 5,
"aa_start": 1310,
"aa_end": null,
"aa_length": 1584,
"cds_start": 3928,
"cds_end": null,
"cds_length": 4755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014812.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366542.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.3634G>A",
"hgvs_p": "p.Ala1212Thr",
"transcript": "ENST00000366544.6",
"protein_id": "ENSP00000355502.1",
"transcript_support_level": 5,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1486,
"cds_start": 3634,
"cds_end": null,
"cds_length": 4461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366544.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.3526G>A",
"hgvs_p": "p.Ala1176Thr",
"transcript": "ENST00000366543.5",
"protein_id": "ENSP00000355501.1",
"transcript_support_level": 5,
"aa_start": 1176,
"aa_end": null,
"aa_length": 1460,
"cds_start": 3526,
"cds_end": null,
"cds_length": 4383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366543.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Ala36Thr",
"transcript": "ENST00000490813.5",
"protein_id": "ENSP00000430142.1",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 293,
"cds_start": 106,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000490813.5"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.4114G>A",
"hgvs_p": "p.Ala1372Thr",
"transcript": "ENST00000931983.1",
"protein_id": "ENSP00000602042.1",
"transcript_support_level": null,
"aa_start": 1372,
"aa_end": null,
"aa_length": 1646,
"cds_start": 4114,
"cds_end": null,
"cds_length": 4941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931983.1"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.4006G>A",
"hgvs_p": "p.Ala1336Thr",
"transcript": "ENST00000956795.1",
"protein_id": "ENSP00000626854.1",
"transcript_support_level": null,
"aa_start": 1336,
"aa_end": null,
"aa_length": 1610,
"cds_start": 4006,
"cds_end": null,
"cds_length": 4833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956795.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.3817G>A",
"hgvs_p": "p.Ala1273Thr",
"transcript": "ENST00000336415.8",
"protein_id": "ENSP00000338161.4",
"transcript_support_level": 5,
"aa_start": 1273,
"aa_end": null,
"aa_length": 1557,
"cds_start": 3817,
"cds_end": null,
"cds_length": 4674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336415.8"
},
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.3820G>A",
"hgvs_p": "p.Ala1274Thr",
"transcript": "ENST00000931982.1",
"protein_id": "ENSP00000602041.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1548,
"cds_start": 3820,
"cds_end": null,
"cds_length": 4647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931982.1"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.3634G>A",
"hgvs_p": "p.Ala1212Thr",
"transcript": "NM_001042404.2",
"protein_id": "NP_001035863.1",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1486,
"cds_start": 3634,
"cds_end": null,
"cds_length": 4461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042404.2"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.3526G>A",
"hgvs_p": "p.Ala1176Thr",
"transcript": "NM_001042405.2",
"protein_id": "NP_001035864.1",
"transcript_support_level": null,
"aa_start": 1176,
"aa_end": null,
"aa_length": 1460,
"cds_start": 3526,
"cds_end": null,
"cds_length": 4383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042405.2"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.3526G>A",
"hgvs_p": "p.Ala1176Thr",
"transcript": "ENST00000884286.1",
"protein_id": "ENSP00000554345.1",
"transcript_support_level": null,
"aa_start": 1176,
"aa_end": null,
"aa_length": 1450,
"cds_start": 3526,
"cds_end": null,
"cds_length": 4353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884286.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.3157G>A",
"hgvs_p": "p.Ala1053Thr",
"transcript": "ENST00000884285.1",
"protein_id": "ENSP00000554344.1",
"transcript_support_level": null,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1327,
"cds_start": 3157,
"cds_end": null,
"cds_length": 3984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884285.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Ala36Thr",
"transcript": "ENST00000481987.5",
"protein_id": "ENSP00000427842.1",
"transcript_support_level": 5,
"aa_start": 36,
"aa_end": null,
"aa_length": 320,
"cds_start": 106,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481987.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "ENST00000413359.6",
"protein_id": "ENSP00000394002.2",
"transcript_support_level": 3,
"aa_start": 119,
"aa_end": null,
"aa_length": 262,
"cds_start": 355,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413359.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Ala36Thr",
"transcript": "ENST00000464936.5",
"protein_id": "ENSP00000427843.1",
"transcript_support_level": 5,
"aa_start": 36,
"aa_end": null,
"aa_length": 174,
"cds_start": 106,
"cds_end": null,
"cds_length": 527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000464936.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Ala36Thr",
"transcript": "ENST00000492145.1",
"protein_id": "ENSP00000430112.1",
"transcript_support_level": 5,
"aa_start": 36,
"aa_end": null,
"aa_length": 102,
"cds_start": 106,
"cds_end": null,
"cds_length": 310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000492145.1"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.4114G>A",
"hgvs_p": "p.Ala1372Thr",
"transcript": "XM_006711843.5",
"protein_id": "XP_006711906.1",
"transcript_support_level": null,
"aa_start": 1372,
"aa_end": null,
"aa_length": 1656,
"cds_start": 4114,
"cds_end": null,
"cds_length": 4971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711843.5"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.4114G>A",
"hgvs_p": "p.Ala1372Thr",
"transcript": "XM_011544334.4",
"protein_id": "XP_011542636.1",
"transcript_support_level": null,
"aa_start": 1372,
"aa_end": null,
"aa_length": 1656,
"cds_start": 4114,
"cds_end": null,
"cds_length": 4971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544334.4"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.4114G>A",
"hgvs_p": "p.Ala1372Thr",
"transcript": "XM_011544335.4",
"protein_id": "XP_011542637.1",
"transcript_support_level": null,
"aa_start": 1372,
"aa_end": null,
"aa_length": 1656,
"cds_start": 4114,
"cds_end": null,
"cds_length": 4971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544335.4"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.4114G>A",
"hgvs_p": "p.Ala1372Thr",
"transcript": "XM_011544336.3",
"protein_id": "XP_011542638.1",
"transcript_support_level": null,
"aa_start": 1372,
"aa_end": null,
"aa_length": 1656,
"cds_start": 4114,
"cds_end": null,
"cds_length": 4971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544336.3"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.4114G>A",
"hgvs_p": "p.Ala1372Thr",
"transcript": "XM_017002932.2",
"protein_id": "XP_016858421.1",
"transcript_support_level": null,
"aa_start": 1372,
"aa_end": null,
"aa_length": 1656,
"cds_start": 4114,
"cds_end": null,
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}
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}