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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: 2-85840365-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=85840365&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 85840365,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000638572.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1036G>A",
"hgvs_p": "p.Val346Ile",
"transcript": "NM_003896.4",
"protein_id": "NP_003887.3",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 418,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 4366,
"mane_select": "ENST00000638572.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1036G>A",
"hgvs_p": "p.Val346Ile",
"transcript": "ENST00000638572.2",
"protein_id": "ENSP00000491316.1",
"transcript_support_level": 1,
"aa_start": 346,
"aa_end": null,
"aa_length": 418,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 4366,
"mane_select": "NM_003896.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.967G>A",
"hgvs_p": "p.Val323Ile",
"transcript": "ENST00000393808.8",
"protein_id": "ENSP00000377397.3",
"transcript_support_level": 1,
"aa_start": 323,
"aa_end": null,
"aa_length": 395,
"cds_start": 967,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 2236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Val318Ile",
"transcript": "ENST00000393805.6",
"protein_id": "ENSP00000377394.1",
"transcript_support_level": 1,
"aa_start": 318,
"aa_end": null,
"aa_length": 390,
"cds_start": 952,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 2344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.2271G>A",
"hgvs_p": null,
"transcript": "ENST00000461206.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.1886G>A",
"hgvs_p": null,
"transcript": "ENST00000639472.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1041G>A",
"hgvs_p": null,
"transcript": "ENST00000640378.1",
"protein_id": "ENSP00000492030.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1041G>A",
"hgvs_p": null,
"transcript": "ENST00000640378.1",
"protein_id": "ENSP00000492030.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1093G>A",
"hgvs_p": "p.Val365Ile",
"transcript": "ENST00000640418.1",
"protein_id": "ENSP00000492098.1",
"transcript_support_level": 5,
"aa_start": 365,
"aa_end": null,
"aa_length": 437,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 2467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Val334Ile",
"transcript": "ENST00000639305.1",
"protein_id": "ENSP00000492244.1",
"transcript_support_level": 5,
"aa_start": 334,
"aa_end": null,
"aa_length": 406,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.967G>A",
"hgvs_p": "p.Val323Ile",
"transcript": "NM_001042437.2",
"protein_id": "NP_001035902.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 395,
"cds_start": 967,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 4265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Val318Ile",
"transcript": "NM_001354227.2",
"protein_id": "NP_001341156.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 390,
"cds_start": 952,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1308,
"cdna_end": null,
"cdna_length": 4553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Val318Ile",
"transcript": "NM_001354229.2",
"protein_id": "NP_001341158.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 390,
"cds_start": 952,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1252,
"cdna_end": null,
"cdna_length": 4497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Val318Ile",
"transcript": "NM_001354238.1",
"protein_id": "NP_001341167.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 390,
"cds_start": 952,
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"cdna_start": 1097,
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"cdna_length": 2329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Val318Ile",
"transcript": "ENST00000638986.1",
"protein_id": "ENSP00000491853.1",
"transcript_support_level": 5,
"aa_start": 318,
"aa_end": null,
"aa_length": 390,
"cds_start": 952,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1172,
"cdna_end": null,
"cdna_length": 2331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Val318Ile",
"transcript": "ENST00000639432.1",
"protein_id": "ENSP00000491828.1",
"transcript_support_level": 5,
"aa_start": 318,
"aa_end": null,
"aa_length": 390,
"cds_start": 952,
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"cdna_start": 1128,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Val318Ile",
"transcript": "ENST00000640322.1",
"protein_id": "ENSP00000491564.1",
"transcript_support_level": 5,
"aa_start": 318,
"aa_end": null,
"aa_length": 390,
"cds_start": 952,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1153,
"cdna_end": null,
"cdna_length": 2368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Val318Ile",
"transcript": "ENST00000640982.1",
"protein_id": "ENSP00000492299.1",
"transcript_support_level": 5,
"aa_start": 318,
"aa_end": null,
"aa_length": 390,
"cds_start": 952,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1296,
"cdna_end": null,
"cdna_length": 2465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Val318Ile",
"transcript": "ENST00000640992.1",
"protein_id": "ENSP00000492753.1",
"transcript_support_level": 5,
"aa_start": 318,
"aa_end": null,
"aa_length": 390,
"cds_start": 952,
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"cdna_start": 1123,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Val306Ile",
"transcript": "ENST00000377332.8",
"protein_id": "ENSP00000366549.4",
"transcript_support_level": 5,
"aa_start": 306,
"aa_end": null,
"aa_length": 378,
"cds_start": 916,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 969,
"cdna_end": null,
"cdna_length": 2165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.877G>A",
"hgvs_p": "p.Val293Ile",
"transcript": "NM_001363847.1",
"protein_id": "NP_001350776.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 365,
"cds_start": 877,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 2238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.877G>A",
"hgvs_p": "p.Val293Ile",
"transcript": "ENST00000639119.1",
"protein_id": "ENSP00000492045.1",
"transcript_support_level": 5,
"aa_start": 293,
"aa_end": null,
"aa_length": 365,
"cds_start": 877,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 2131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.793G>A",
"hgvs_p": "p.Val265Ile",
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],
"gene_symbol": "ST3GAL5",
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"dbsnp": "rs145738225",
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"hom_count_reference_population": 1,
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"computational_score_selected": 0.010082662105560303,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.067,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.629,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -9,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -9,
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"criteria": [
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"BP6",
"BS1"
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"verdict": "Benign",
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"gene_symbol": "ST3GAL5",
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"effects": [
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"inheritance_mode": "AR",
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],
"clinvar_disease": "GM3 synthase deficiency,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2",
"phenotype_combined": "GM3 synthase deficiency|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}