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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: 15-63570506-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=63570506&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 63570506,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006537.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP3",
"gene_hgnc_id": 12626,
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Gly279Ser",
"transcript": "NM_006537.4",
"protein_id": "NP_006528.2",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 520,
"cds_start": 835,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380324.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006537.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP3",
"gene_hgnc_id": 12626,
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Gly279Ser",
"transcript": "ENST00000380324.8",
"protein_id": "ENSP00000369681.3",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 520,
"cds_start": 835,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006537.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380324.8"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP3",
"gene_hgnc_id": 12626,
"hgvs_c": "c.784G>A",
"hgvs_p": "p.Gly262Ser",
"transcript": "ENST00000558285.5",
"protein_id": "ENSP00000453619.1",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 503,
"cds_start": 784,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558285.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP3",
"gene_hgnc_id": 12626,
"hgvs_c": "n.*688G>A",
"hgvs_p": null,
"transcript": "ENST00000538686.6",
"protein_id": "ENSP00000445793.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000538686.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP3",
"gene_hgnc_id": 12626,
"hgvs_c": "n.*817G>A",
"hgvs_p": null,
"transcript": "ENST00000558157.5",
"protein_id": "ENSP00000452929.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000558157.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP3",
"gene_hgnc_id": 12626,
"hgvs_c": "n.*783G>A",
"hgvs_p": null,
"transcript": "ENST00000559192.5",
"protein_id": "ENSP00000453228.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000559192.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP3",
"gene_hgnc_id": 12626,
"hgvs_c": "n.*688G>A",
"hgvs_p": null,
"transcript": "ENST00000538686.6",
"protein_id": "ENSP00000445793.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000538686.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP3",
"gene_hgnc_id": 12626,
"hgvs_c": "n.*817G>A",
"hgvs_p": null,
"transcript": "ENST00000558157.5",
"protein_id": "ENSP00000452929.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000558157.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP3",
"gene_hgnc_id": 12626,
"hgvs_c": "n.*783G>A",
"hgvs_p": null,
"transcript": "ENST00000559192.5",
"protein_id": "ENSP00000453228.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000559192.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP3",
"gene_hgnc_id": 12626,
"hgvs_c": "c.940G>A",
"hgvs_p": "p.Gly314Ser",
"transcript": "ENST00000875483.1",
"protein_id": "ENSP00000545542.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 555,
"cds_start": 940,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875483.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP3",
"gene_hgnc_id": 12626,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Ser",
"transcript": "ENST00000969958.1",
"protein_id": "ENSP00000640017.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 554,
"cds_start": 937,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969958.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP3",
"gene_hgnc_id": 12626,
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Gly279Ser",
"transcript": "ENST00000969959.1",
"protein_id": "ENSP00000640018.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 540,
"cds_start": 835,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969959.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP3",
"gene_hgnc_id": 12626,
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Gly279Ser",
"transcript": "ENST00000875484.1",
"protein_id": "ENSP00000545543.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 539,
"cds_start": 835,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875484.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP3",
"gene_hgnc_id": 12626,
"hgvs_c": "c.829G>A",
"hgvs_p": "p.Gly277Ser",
"transcript": "ENST00000969962.1",
"protein_id": "ENSP00000640021.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 518,
"cds_start": 829,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969962.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP3",
"gene_hgnc_id": 12626,
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Gly279Ser",
"transcript": "ENST00000969960.1",
"protein_id": "ENSP00000640019.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 516,
"cds_start": 835,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969960.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP3",
"gene_hgnc_id": 12626,
"hgvs_c": "c.769G>A",
"hgvs_p": "p.Gly257Ser",
"transcript": "ENST00000268049.11",
"protein_id": "ENSP00000268049.7",
"transcript_support_level": 5,
"aa_start": 257,
"aa_end": null,
"aa_length": 498,
"cds_start": 769,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000268049.11"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP3",
"gene_hgnc_id": 12626,
"hgvs_c": "c.703G>A",
"hgvs_p": "p.Gly235Ser",
"transcript": "NM_001256702.2",
"protein_id": "NP_001243631.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 476,
"cds_start": 703,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256702.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP3",
"gene_hgnc_id": 12626,
"hgvs_c": "c.703G>A",
"hgvs_p": "p.Gly235Ser",
"transcript": "ENST00000540797.5",
"protein_id": "ENSP00000445828.1",
"transcript_support_level": 2,
"aa_start": 235,
"aa_end": null,
"aa_length": 476,
"cds_start": 703,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540797.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP3",
"gene_hgnc_id": 12626,
"hgvs_c": "c.568G>A",
"hgvs_p": "p.Gly190Ser",
"transcript": "ENST00000559711.5",
"protein_id": "ENSP00000453138.1",
"transcript_support_level": 5,
"aa_start": 190,
"aa_end": null,
"aa_length": 431,
"cds_start": 568,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559711.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP3",
"gene_hgnc_id": 12626,
"hgvs_c": "c.769G>A",
"hgvs_p": "p.Gly257Ser",
"transcript": "XM_017022763.2",
"protein_id": "XP_016878252.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 498,
"cds_start": 769,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022763.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP3",
"gene_hgnc_id": 12626,
"hgvs_c": "c.769G>A",
"hgvs_p": "p.Gly257Ser",
"transcript": "XM_017022764.2",
"protein_id": "XP_016878253.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 498,
"cds_start": 769,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022764.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP3",
"gene_hgnc_id": 12626,
"hgvs_c": "c.769G>A",
"hgvs_p": "p.Gly257Ser",
"transcript": "XM_017022765.2",
"protein_id": "XP_016878254.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 498,
"cds_start": 769,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022765.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.053,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
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"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_006537.4",
"gene_symbol": "USP3",
"hgnc_id": 12626,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "c.835G>A",
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{
"score": -4,
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"pathogenic_score": 0,
"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "ENST00000559357.5",
"gene_symbol": "USP3-AS1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
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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
}