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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: 16-27749769-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=27749769&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KATNIP",
"hgnc_id": 29068,
"hgvs_c": "c.2809G>A",
"hgvs_p": "p.Asp937Asn",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_015202.5",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000305858",
"hgnc_id": null,
"hgvs_c": "n.116+291C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "ENST00000813528.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 100,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0764,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.78,
"chr": "16",
"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": 0.0060463547706604,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1618,
"aa_ref": "D",
"aa_start": 937,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6599,
"cdna_start": 2836,
"cds_end": null,
"cds_length": 4857,
"cds_start": 2809,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_015202.5",
"gene_hgnc_id": 29068,
"gene_symbol": "KATNIP",
"hgvs_c": "c.2809G>A",
"hgvs_p": "p.Asp937Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000261588.10",
"protein_coding": true,
"protein_id": "NP_056017.4",
"strand": true,
"transcript": "NM_015202.5",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1618,
"aa_ref": "D",
"aa_start": 937,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6599,
"cdna_start": 2836,
"cds_end": null,
"cds_length": 4857,
"cds_start": 2809,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000261588.10",
"gene_hgnc_id": 29068,
"gene_symbol": "KATNIP",
"hgvs_c": "c.2809G>A",
"hgvs_p": "p.Asp937Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015202.5",
"protein_coding": true,
"protein_id": "ENSP00000261588.4",
"strand": true,
"transcript": "ENST00000261588.10",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1574,
"aa_ref": "D",
"aa_start": 893,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6494,
"cdna_start": 2704,
"cds_end": null,
"cds_length": 4725,
"cds_start": 2677,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000862512.1",
"gene_hgnc_id": 29068,
"gene_symbol": "KATNIP",
"hgvs_c": "c.2677G>A",
"hgvs_p": "p.Asp893Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532571.1",
"strand": true,
"transcript": "ENST00000862512.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1679,
"aa_ref": "D",
"aa_start": 998,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6782,
"cdna_start": 3019,
"cds_end": null,
"cds_length": 5040,
"cds_start": 2992,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_005255201.4",
"gene_hgnc_id": 29068,
"gene_symbol": "KATNIP",
"hgvs_c": "c.2992G>A",
"hgvs_p": "p.Asp998Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005255258.1",
"strand": true,
"transcript": "XM_005255201.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1661,
"aa_ref": "D",
"aa_start": 980,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6728,
"cdna_start": 2965,
"cds_end": null,
"cds_length": 4986,
"cds_start": 2938,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_005255202.4",
"gene_hgnc_id": 29068,
"gene_symbol": "KATNIP",
"hgvs_c": "c.2938G>A",
"hgvs_p": "p.Asp980Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005255259.1",
"strand": true,
"transcript": "XM_005255202.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1653,
"aa_ref": "D",
"aa_start": 972,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6768,
"cdna_start": 3005,
"cds_end": null,
"cds_length": 4962,
"cds_start": 2914,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_011545773.3",
"gene_hgnc_id": 29068,
"gene_symbol": "KATNIP",
"hgvs_c": "c.2914G>A",
"hgvs_p": "p.Asp972Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011544075.1",
"strand": true,
"transcript": "XM_011545773.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1653,
"aa_ref": "D",
"aa_start": 972,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6726,
"cdna_start": 2963,
"cds_end": null,
"cds_length": 4962,
"cds_start": 2914,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_011545774.3",
"gene_hgnc_id": 29068,
"gene_symbol": "KATNIP",
"hgvs_c": "c.2914G>A",
"hgvs_p": "p.Asp972Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011544076.1",
"strand": true,
"transcript": "XM_011545774.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1639,
"aa_ref": "D",
"aa_start": 958,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6662,
"cdna_start": 2899,
"cds_end": null,
"cds_length": 4920,
"cds_start": 2872,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_011545775.3",
"gene_hgnc_id": 29068,
"gene_symbol": "KATNIP",
"hgvs_c": "c.2872G>A",
"hgvs_p": "p.Asp958Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011544077.1",
"strand": true,
"transcript": "XM_011545775.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1636,
"aa_ref": "D",
"aa_start": 955,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6653,
"cdna_start": 2890,
"cds_end": null,
"cds_length": 4911,
"cds_start": 2863,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_005255203.4",
"gene_hgnc_id": 29068,
"gene_symbol": "KATNIP",
"hgvs_c": "c.2863G>A",
"hgvs_p": "p.Asp955Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005255260.1",
"strand": true,
"transcript": "XM_005255203.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1635,
"aa_ref": "D",
"aa_start": 954,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6650,
"cdna_start": 2887,
"cds_end": null,
"cds_length": 4908,
"cds_start": 2860,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_011545776.3",
"gene_hgnc_id": 29068,
"gene_symbol": "KATNIP",
"hgvs_c": "c.2860G>A",
"hgvs_p": "p.Asp954Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011544078.1",
"strand": true,
"transcript": "XM_011545776.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1617,
"aa_ref": "D",
"aa_start": 936,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6596,
"cdna_start": 2833,
"cds_end": null,
"cds_length": 4854,
"cds_start": 2806,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_024450216.2",
"gene_hgnc_id": 29068,
"gene_symbol": "KATNIP",
"hgvs_c": "c.2806G>A",
"hgvs_p": "p.Asp936Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024305984.1",
"strand": true,
"transcript": "XM_024450216.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1596,
"aa_ref": "D",
"aa_start": 915,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6533,
"cdna_start": 2770,
"cds_end": null,
"cds_length": 4791,
"cds_start": 2743,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_017023085.2",
"gene_hgnc_id": 29068,
"gene_symbol": "KATNIP",
"hgvs_c": "c.2743G>A",
"hgvs_p": "p.Asp915Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878574.1",
"strand": true,
"transcript": "XM_017023085.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1595,
"aa_ref": "D",
"aa_start": 914,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6530,
"cdna_start": 2767,
"cds_end": null,
"cds_length": 4788,
"cds_start": 2740,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047433842.1",
"gene_hgnc_id": 29068,
"gene_symbol": "KATNIP",
"hgvs_c": "c.2740G>A",
"hgvs_p": "p.Asp914Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289798.1",
"strand": true,
"transcript": "XM_047433842.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1592,
"aa_ref": "D",
"aa_start": 911,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6521,
"cdna_start": 2758,
"cds_end": null,
"cds_length": 4779,
"cds_start": 2731,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_006721025.4",
"gene_hgnc_id": 29068,
"gene_symbol": "KATNIP",
"hgvs_c": "c.2731G>A",
"hgvs_p": "p.Asp911Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721088.1",
"strand": true,
"transcript": "XM_006721025.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1574,
"aa_ref": "D",
"aa_start": 893,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6467,
"cdna_start": 2704,
"cds_end": null,
"cds_length": 4725,
"cds_start": 2677,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_017023087.2",
"gene_hgnc_id": 29068,
"gene_symbol": "KATNIP",
"hgvs_c": "c.2677G>A",
"hgvs_p": "p.Asp893Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878576.1",
"strand": true,
"transcript": "XM_017023087.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1552,
"aa_ref": "D",
"aa_start": 871,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6401,
"cdna_start": 2638,
"cds_end": null,
"cds_length": 4659,
"cds_start": 2611,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047433843.1",
"gene_hgnc_id": 29068,
"gene_symbol": "KATNIP",
"hgvs_c": "c.2611G>A",
"hgvs_p": "p.Asp871Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289799.1",
"strand": true,
"transcript": "XM_047433843.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1457,
"aa_ref": "D",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6705,
"cdna_start": 2942,
"cds_end": null,
"cds_length": 4374,
"cds_start": 2326,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047433844.1",
"gene_hgnc_id": 29068,
"gene_symbol": "KATNIP",
"hgvs_c": "c.2326G>A",
"hgvs_p": "p.Asp776Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289800.1",
"strand": true,
"transcript": "XM_047433844.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1248,
"aa_ref": "D",
"aa_start": 998,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3835,
"cdna_start": 3019,
"cds_end": null,
"cds_length": 3747,
"cds_start": 2992,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_005255206.4",
"gene_hgnc_id": 29068,
"gene_symbol": "KATNIP",
"hgvs_c": "c.2992G>A",
"hgvs_p": "p.Asp998Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005255263.1",
"strand": true,
"transcript": "XM_005255206.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1244,
"aa_ref": "D",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5617,
"cdna_start": 1854,
"cds_end": null,
"cds_length": 3735,
"cds_start": 1687,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047433845.1",
"gene_hgnc_id": 29068,
"gene_symbol": "KATNIP",
"hgvs_c": "c.1687G>A",
"hgvs_p": "p.Asp563Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289801.1",
"strand": true,
"transcript": "XM_047433845.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1211,
"aa_ref": "D",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5496,
"cdna_start": 1733,
"cds_end": null,
"cds_length": 3636,
"cds_start": 1588,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_005255208.3",
"gene_hgnc_id": 29068,
"gene_symbol": "KATNIP",
"hgvs_c": "c.1588G>A",
"hgvs_p": "p.Asp530Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005255265.1",
"strand": true,
"transcript": "XM_005255208.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
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}