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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: 17-75891833-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75891833&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75891833,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_173547.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.965T>G",
"hgvs_p": "p.Leu322Arg",
"transcript": "NM_173547.4",
"protein_id": "NP_775818.2",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 517,
"cds_start": 965,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000269383.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173547.4"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.965T>G",
"hgvs_p": "p.Leu322Arg",
"transcript": "ENST00000269383.8",
"protein_id": "ENSP00000269383.3",
"transcript_support_level": 1,
"aa_start": 322,
"aa_end": null,
"aa_length": 517,
"cds_start": 965,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_173547.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269383.8"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.1004T>G",
"hgvs_p": "p.Leu335Arg",
"transcript": "ENST00000924710.1",
"protein_id": "ENSP00000594769.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 530,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924710.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.893T>G",
"hgvs_p": "p.Leu298Arg",
"transcript": "ENST00000924712.1",
"protein_id": "ENSP00000594771.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 493,
"cds_start": 893,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924712.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.869T>G",
"hgvs_p": "p.Leu290Arg",
"transcript": "ENST00000909232.1",
"protein_id": "ENSP00000579291.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 485,
"cds_start": 869,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909232.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.788T>G",
"hgvs_p": "p.Leu263Arg",
"transcript": "ENST00000946120.1",
"protein_id": "ENSP00000616179.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 458,
"cds_start": 788,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946120.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.257T>G",
"hgvs_p": "p.Leu86Arg",
"transcript": "ENST00000591668.5",
"protein_id": "ENSP00000465034.1",
"transcript_support_level": 2,
"aa_start": 86,
"aa_end": null,
"aa_length": 136,
"cds_start": 257,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591668.5"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.1136T>G",
"hgvs_p": "p.Leu379Arg",
"transcript": "XM_047435580.1",
"protein_id": "XP_047291536.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 574,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435580.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.1097T>G",
"hgvs_p": "p.Leu366Arg",
"transcript": "XM_047435581.1",
"protein_id": "XP_047291537.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 561,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435581.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.1004T>G",
"hgvs_p": "p.Leu335Arg",
"transcript": "XM_006721760.4",
"protein_id": "XP_006721823.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 530,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721760.4"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.1004T>G",
"hgvs_p": "p.Leu335Arg",
"transcript": "XM_011524499.3",
"protein_id": "XP_011522801.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 385,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524499.3"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.1004T>G",
"hgvs_p": "p.Leu335Arg",
"transcript": "XM_011524500.3",
"protein_id": "XP_011522802.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 385,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524500.3"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.965T>G",
"hgvs_p": "p.Leu322Arg",
"transcript": "XM_047435583.1",
"protein_id": "XP_047291539.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 372,
"cds_start": 965,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435583.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.958+178T>G",
"hgvs_p": null,
"transcript": "ENST00000924711.1",
"protein_id": "ENSP00000594770.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": null,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924711.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.919+178T>G",
"hgvs_p": null,
"transcript": "NM_001256124.2",
"protein_id": "NP_001243053.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 495,
"cds_start": null,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256124.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.910+178T>G",
"hgvs_p": null,
"transcript": "ENST00000946122.1",
"protein_id": "ENSP00000616181.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 492,
"cds_start": null,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946122.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.823+178T>G",
"hgvs_p": null,
"transcript": "ENST00000946121.1",
"protein_id": "ENSP00000616180.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": null,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946121.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.538+178T>G",
"hgvs_p": null,
"transcript": "ENST00000543309.5",
"protein_id": "ENSP00000441480.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": null,
"cds_end": null,
"cds_length": 863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543309.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.717+434T>G",
"hgvs_p": null,
"transcript": "ENST00000540128.1",
"protein_id": "ENSP00000444607.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 243,
"cds_start": null,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540128.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.139+178T>G",
"hgvs_p": null,
"transcript": "ENST00000592642.1",
"protein_id": "ENSP00000466353.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 90,
"cds_start": null,
"cds_end": null,
"cds_length": 273,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592642.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.958+178T>G",
"hgvs_p": null,
"transcript": "XM_006721761.4",
"protein_id": "XP_006721824.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": null,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721761.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.958+178T>G",
"hgvs_p": null,
"transcript": "XM_011524501.3",
"protein_id": "XP_011522803.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 363,
"cds_start": null,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524501.3"
},
{
"aa_ref": null,
"aa_alt": null,
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"protein_coding": true,
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{
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{
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],
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"transcript": "XR_934419.3",
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"biotype": "pseudogene",
"feature": "XR_934419.3"
}
],
"gene_symbol": "TRIM65",
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"dbsnp": "rs758468327",
"frequency_reference_population": 0.0000043412197,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000410882,
"gnomad_genomes_af": 0.00000657125,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1670660376548767,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.18000000715255737,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.575,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0827,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.745,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.18,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_173547.4",
"gene_symbol": "TRIM65",
"hgnc_id": 27316,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.965T>G",
"hgvs_p": "p.Leu322Arg"
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],
"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
}