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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: 21-29037330-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=29037330&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "USP16",
"hgnc_id": 12614,
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Ser168Asn",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_006447.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.0612,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"chr": "21",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.047422856092453,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 823,
"aa_ref": "S",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2924,
"cdna_start": 654,
"cds_end": null,
"cds_length": 2472,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_006447.3",
"gene_hgnc_id": 12614,
"gene_symbol": "USP16",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Ser168Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000399976.7",
"protein_coding": true,
"protein_id": "NP_006438.1",
"strand": true,
"transcript": "NM_006447.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 823,
"aa_ref": "S",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2924,
"cdna_start": 654,
"cds_end": null,
"cds_length": 2472,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000399976.7",
"gene_hgnc_id": 12614,
"gene_symbol": "USP16",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Ser168Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006447.3",
"protein_coding": true,
"protein_id": "ENSP00000382858.2",
"strand": true,
"transcript": "ENST00000399976.7",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 822,
"aa_ref": "S",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2960,
"cdna_start": 690,
"cds_end": null,
"cds_length": 2469,
"cds_start": 500,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000399975.7",
"gene_hgnc_id": 12614,
"gene_symbol": "USP16",
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Ser167Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382857.3",
"strand": true,
"transcript": "ENST00000399975.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3835,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000474835.5",
"gene_hgnc_id": 12614,
"gene_symbol": "USP16",
"hgvs_c": "n.671G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000474835.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 823,
"aa_ref": "S",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2987,
"cdna_start": 717,
"cds_end": null,
"cds_length": 2472,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001032410.2",
"gene_hgnc_id": 12614,
"gene_symbol": "USP16",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Ser168Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001027582.1",
"strand": true,
"transcript": "NM_001032410.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 823,
"aa_ref": "S",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3004,
"cdna_start": 734,
"cds_end": null,
"cds_length": 2472,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000334352.8",
"gene_hgnc_id": 12614,
"gene_symbol": "USP16",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Ser168Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000334808.4",
"strand": true,
"transcript": "ENST00000334352.8",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 823,
"aa_ref": "S",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2946,
"cdna_start": 676,
"cds_end": null,
"cds_length": 2472,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000885882.1",
"gene_hgnc_id": 12614,
"gene_symbol": "USP16",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Ser168Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555941.1",
"strand": true,
"transcript": "ENST00000885882.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 823,
"aa_ref": "S",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4293,
"cdna_start": 2023,
"cds_end": null,
"cds_length": 2472,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000885883.1",
"gene_hgnc_id": 12614,
"gene_symbol": "USP16",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Ser168Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555942.1",
"strand": true,
"transcript": "ENST00000885883.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 823,
"aa_ref": "S",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3101,
"cdna_start": 831,
"cds_end": null,
"cds_length": 2472,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000885887.1",
"gene_hgnc_id": 12614,
"gene_symbol": "USP16",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Ser168Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555946.1",
"strand": true,
"transcript": "ENST00000885887.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 823,
"aa_ref": "S",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3621,
"cdna_start": 1351,
"cds_end": null,
"cds_length": 2472,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000885889.1",
"gene_hgnc_id": 12614,
"gene_symbol": "USP16",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Ser168Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555948.1",
"strand": true,
"transcript": "ENST00000885889.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 823,
"aa_ref": "S",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2919,
"cdna_start": 649,
"cds_end": null,
"cds_length": 2472,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000885890.1",
"gene_hgnc_id": 12614,
"gene_symbol": "USP16",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Ser168Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555949.1",
"strand": true,
"transcript": "ENST00000885890.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 823,
"aa_ref": "S",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3906,
"cdna_start": 1636,
"cds_end": null,
"cds_length": 2472,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000885892.1",
"gene_hgnc_id": 12614,
"gene_symbol": "USP16",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Ser168Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555951.1",
"strand": true,
"transcript": "ENST00000885892.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 823,
"aa_ref": "S",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2751,
"cdna_start": 712,
"cds_end": null,
"cds_length": 2472,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000885893.1",
"gene_hgnc_id": 12614,
"gene_symbol": "USP16",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Ser168Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555952.1",
"strand": true,
"transcript": "ENST00000885893.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 823,
"aa_ref": "S",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3010,
"cdna_start": 740,
"cds_end": null,
"cds_length": 2472,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000928004.1",
"gene_hgnc_id": 12614,
"gene_symbol": "USP16",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Ser168Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598063.1",
"strand": true,
"transcript": "ENST00000928004.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 823,
"aa_ref": "S",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2889,
"cdna_start": 619,
"cds_end": null,
"cds_length": 2472,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000928005.1",
"gene_hgnc_id": 12614,
"gene_symbol": "USP16",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Ser168Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598064.1",
"strand": true,
"transcript": "ENST00000928005.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 823,
"aa_ref": "S",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4239,
"cdna_start": 1974,
"cds_end": null,
"cds_length": 2472,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000952481.1",
"gene_hgnc_id": 12614,
"gene_symbol": "USP16",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Ser168Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622540.1",
"strand": true,
"transcript": "ENST00000952481.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 823,
"aa_ref": "S",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2953,
"cdna_start": 687,
"cds_end": null,
"cds_length": 2472,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000952484.1",
"gene_hgnc_id": 12614,
"gene_symbol": "USP16",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Ser168Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622543.1",
"strand": true,
"transcript": "ENST00000952484.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 823,
"aa_ref": "S",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3091,
"cdna_start": 825,
"cds_end": null,
"cds_length": 2472,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000952485.1",
"gene_hgnc_id": 12614,
"gene_symbol": "USP16",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Ser168Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622544.1",
"strand": true,
"transcript": "ENST00000952485.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 823,
"aa_ref": "S",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2953,
"cdna_start": 688,
"cds_end": null,
"cds_length": 2472,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000952486.1",
"gene_hgnc_id": 12614,
"gene_symbol": "USP16",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Ser168Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622545.1",
"strand": true,
"transcript": "ENST00000952486.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 823,
"aa_ref": "S",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3699,
"cdna_start": 1434,
"cds_end": null,
"cds_length": 2472,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000952490.1",
"gene_hgnc_id": 12614,
"gene_symbol": "USP16",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Ser168Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622549.1",
"strand": true,
"transcript": "ENST00000952490.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 822,
"aa_ref": "S",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2921,
"cdna_start": 651,
"cds_end": null,
"cds_length": 2469,
"cds_start": 500,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001001992.2",
"gene_hgnc_id": 12614,
"gene_symbol": "USP16",
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Ser167Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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