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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: 1-243140065-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=243140065&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 243140065,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014812.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.4102A>T",
"hgvs_p": "p.Ile1368Phe",
"transcript": "NM_014812.3",
"protein_id": "NP_055627.2",
"transcript_support_level": null,
"aa_start": 1368,
"aa_end": null,
"aa_length": 1584,
"cds_start": 4102,
"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": "I",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.4102A>T",
"hgvs_p": "p.Ile1368Phe",
"transcript": "ENST00000366542.6",
"protein_id": "ENSP00000355500.1",
"transcript_support_level": 5,
"aa_start": 1368,
"aa_end": null,
"aa_length": 1584,
"cds_start": 4102,
"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": "I",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.3808A>T",
"hgvs_p": "p.Ile1270Phe",
"transcript": "ENST00000366544.6",
"protein_id": "ENSP00000355502.1",
"transcript_support_level": 5,
"aa_start": 1270,
"aa_end": null,
"aa_length": 1486,
"cds_start": 3808,
"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": "I",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.3730A>T",
"hgvs_p": "p.Ile1244Phe",
"transcript": "ENST00000366543.5",
"protein_id": "ENSP00000355501.1",
"transcript_support_level": 5,
"aa_start": 1244,
"aa_end": null,
"aa_length": 1460,
"cds_start": 3730,
"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": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.229A>T",
"hgvs_p": "p.Ile77Phe",
"transcript": "ENST00000490813.5",
"protein_id": "ENSP00000430142.1",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 293,
"cds_start": 229,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "n.299A>T",
"hgvs_p": null,
"transcript": "ENST00000468254.5",
"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": "pseudogene",
"feature": "ENST00000468254.5"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.4288A>T",
"hgvs_p": "p.Ile1430Phe",
"transcript": "ENST00000931983.1",
"protein_id": "ENSP00000602042.1",
"transcript_support_level": null,
"aa_start": 1430,
"aa_end": null,
"aa_length": 1646,
"cds_start": 4288,
"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": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.4180A>T",
"hgvs_p": "p.Ile1394Phe",
"transcript": "ENST00000956795.1",
"protein_id": "ENSP00000626854.1",
"transcript_support_level": null,
"aa_start": 1394,
"aa_end": null,
"aa_length": 1610,
"cds_start": 4180,
"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": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.4021A>T",
"hgvs_p": "p.Ile1341Phe",
"transcript": "ENST00000336415.8",
"protein_id": "ENSP00000338161.4",
"transcript_support_level": 5,
"aa_start": 1341,
"aa_end": null,
"aa_length": 1557,
"cds_start": 4021,
"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": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.3994A>T",
"hgvs_p": "p.Ile1332Phe",
"transcript": "ENST00000931982.1",
"protein_id": "ENSP00000602041.1",
"transcript_support_level": null,
"aa_start": 1332,
"aa_end": null,
"aa_length": 1548,
"cds_start": 3994,
"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": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.3808A>T",
"hgvs_p": "p.Ile1270Phe",
"transcript": "NM_001042404.2",
"protein_id": "NP_001035863.1",
"transcript_support_level": null,
"aa_start": 1270,
"aa_end": null,
"aa_length": 1486,
"cds_start": 3808,
"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": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.3730A>T",
"hgvs_p": "p.Ile1244Phe",
"transcript": "NM_001042405.2",
"protein_id": "NP_001035864.1",
"transcript_support_level": null,
"aa_start": 1244,
"aa_end": null,
"aa_length": 1460,
"cds_start": 3730,
"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": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.3700A>T",
"hgvs_p": "p.Ile1234Phe",
"transcript": "ENST00000884286.1",
"protein_id": "ENSP00000554345.1",
"transcript_support_level": null,
"aa_start": 1234,
"aa_end": null,
"aa_length": 1450,
"cds_start": 3700,
"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": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.3331A>T",
"hgvs_p": "p.Ile1111Phe",
"transcript": "ENST00000884285.1",
"protein_id": "ENSP00000554344.1",
"transcript_support_level": null,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1327,
"cds_start": 3331,
"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": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.310A>T",
"hgvs_p": "p.Ile104Phe",
"transcript": "ENST00000481987.5",
"protein_id": "ENSP00000427842.1",
"transcript_support_level": 5,
"aa_start": 104,
"aa_end": null,
"aa_length": 320,
"cds_start": 310,
"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": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.478A>T",
"hgvs_p": "p.Ile160Phe",
"transcript": "ENST00000413359.6",
"protein_id": "ENSP00000394002.2",
"transcript_support_level": 3,
"aa_start": 160,
"aa_end": null,
"aa_length": 262,
"cds_start": 478,
"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": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.229A>T",
"hgvs_p": "p.Ile77Phe",
"transcript": "ENST00000464936.5",
"protein_id": "ENSP00000427843.1",
"transcript_support_level": 5,
"aa_start": 77,
"aa_end": null,
"aa_length": 174,
"cds_start": 229,
"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": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.229A>T",
"hgvs_p": "p.Ile77Phe",
"transcript": "ENST00000492145.1",
"protein_id": "ENSP00000430112.1",
"transcript_support_level": 5,
"aa_start": 77,
"aa_end": null,
"aa_length": 102,
"cds_start": 229,
"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": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.4318A>T",
"hgvs_p": "p.Ile1440Phe",
"transcript": "XM_006711843.5",
"protein_id": "XP_006711906.1",
"transcript_support_level": null,
"aa_start": 1440,
"aa_end": null,
"aa_length": 1656,
"cds_start": 4318,
"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": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.4318A>T",
"hgvs_p": "p.Ile1440Phe",
"transcript": "XM_011544334.4",
"protein_id": "XP_011542636.1",
"transcript_support_level": null,
"aa_start": 1440,
"aa_end": null,
"aa_length": 1656,
"cds_start": 4318,
"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": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.4318A>T",
"hgvs_p": "p.Ile1440Phe",
"transcript": "XM_011544335.4",
"protein_id": "XP_011542637.1",
"transcript_support_level": null,
"aa_start": 1440,
"aa_end": null,
"aa_length": 1656,
"cds_start": 4318,
"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": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.4318A>T",
"hgvs_p": "p.Ile1440Phe",
"transcript": "XM_011544336.3",
"protein_id": "XP_011542638.1",
"transcript_support_level": null,
"aa_start": 1440,
"aa_end": null,
"aa_length": 1656,
"cds_start": 4318,
"cds_end": null,
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"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": "pseudogene",
"feature": "ENST00000737087.1"
}
],
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"dbsnp": "rs2055645848",
"frequency_reference_population": 0.0000065703885,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657039,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.34065765142440796,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.249,
"revel_prediction": "Benign",
"alphamissense_score": 0.8003,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.814,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014812.3",
"gene_symbol": "CEP170",
"hgnc_id": 28920,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4102A>T",
"hgvs_p": "p.Ile1368Phe"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000439562.1",
"gene_symbol": "ENSG00000227230",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.171T>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}