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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: 16-56935458-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=56935458&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HERPUD1",
"hgnc_id": 13744,
"hgvs_c": "c.283C>G",
"hgvs_p": "p.Pro95Ala",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_014685.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 20,
"alphamissense_prediction": null,
"alphamissense_score": 0.0679,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"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": 0.11741110682487488,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 391,
"aa_ref": "P",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2853,
"cdna_start": 386,
"cds_end": null,
"cds_length": 1176,
"cds_start": 283,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_014685.4",
"gene_hgnc_id": 13744,
"gene_symbol": "HERPUD1",
"hgvs_c": "c.283C>G",
"hgvs_p": "p.Pro95Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000439977.7",
"protein_coding": true,
"protein_id": "NP_055500.1",
"strand": true,
"transcript": "NM_014685.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 391,
"aa_ref": "P",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2853,
"cdna_start": 386,
"cds_end": null,
"cds_length": 1176,
"cds_start": 283,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000439977.7",
"gene_hgnc_id": 13744,
"gene_symbol": "HERPUD1",
"hgvs_c": "c.283C>G",
"hgvs_p": "p.Pro95Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014685.4",
"protein_coding": true,
"protein_id": "ENSP00000409555.2",
"strand": true,
"transcript": "ENST00000439977.7",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 390,
"aa_ref": "P",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1862,
"cdna_start": 378,
"cds_end": null,
"cds_length": 1173,
"cds_start": 280,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000300302.9",
"gene_hgnc_id": 13744,
"gene_symbol": "HERPUD1",
"hgvs_c": "c.280C>G",
"hgvs_p": "p.Pro94Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000300302.5",
"strand": true,
"transcript": "ENST00000300302.9",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 232,
"aa_ref": "P",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1388,
"cdna_start": 378,
"cds_end": null,
"cds_length": 699,
"cds_start": 280,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000344114.8",
"gene_hgnc_id": 13744,
"gene_symbol": "HERPUD1",
"hgvs_c": "c.280C>G",
"hgvs_p": "p.Pro94Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340931.4",
"strand": true,
"transcript": "ENST00000344114.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1425,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000570273.5",
"gene_hgnc_id": 13744,
"gene_symbol": "HERPUD1",
"hgvs_c": "n.380C>G",
"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": "ENST00000570273.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 400,
"aa_ref": "P",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1887,
"cdna_start": 386,
"cds_end": null,
"cds_length": 1203,
"cds_start": 283,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000855548.1",
"gene_hgnc_id": 13744,
"gene_symbol": "HERPUD1",
"hgvs_c": "c.283C>G",
"hgvs_p": "p.Pro95Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525607.1",
"strand": true,
"transcript": "ENST00000855548.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 391,
"aa_ref": "P",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2292,
"cdna_start": 808,
"cds_end": null,
"cds_length": 1176,
"cds_start": 283,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000938506.1",
"gene_hgnc_id": 13744,
"gene_symbol": "HERPUD1",
"hgvs_c": "c.283C>G",
"hgvs_p": "p.Pro95Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608565.1",
"strand": true,
"transcript": "ENST00000938506.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 390,
"aa_ref": "P",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2850,
"cdna_start": 383,
"cds_end": null,
"cds_length": 1173,
"cds_start": 280,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001010989.3",
"gene_hgnc_id": 13744,
"gene_symbol": "HERPUD1",
"hgvs_c": "c.280C>G",
"hgvs_p": "p.Pro94Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001010989.1",
"strand": true,
"transcript": "NM_001010989.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 390,
"aa_ref": "P",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2167,
"cdna_start": 691,
"cds_end": null,
"cds_length": 1173,
"cds_start": 280,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000951120.1",
"gene_hgnc_id": 13744,
"gene_symbol": "HERPUD1",
"hgvs_c": "c.280C>G",
"hgvs_p": "p.Pro94Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621179.1",
"strand": true,
"transcript": "ENST00000951120.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 389,
"aa_ref": "P",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1865,
"cdna_start": 386,
"cds_end": null,
"cds_length": 1170,
"cds_start": 283,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000951121.1",
"gene_hgnc_id": 13744,
"gene_symbol": "HERPUD1",
"hgvs_c": "c.283C>G",
"hgvs_p": "p.Pro95Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621180.1",
"strand": true,
"transcript": "ENST00000951121.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 379,
"aa_ref": "P",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2714,
"cdna_start": 386,
"cds_end": null,
"cds_length": 1140,
"cds_start": 283,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001436349.1",
"gene_hgnc_id": 13744,
"gene_symbol": "HERPUD1",
"hgvs_c": "c.283C>G",
"hgvs_p": "p.Pro95Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001423278.1",
"strand": true,
"transcript": "NM_001436349.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 350,
"aa_ref": "P",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1749,
"cdna_start": 386,
"cds_end": null,
"cds_length": 1053,
"cds_start": 283,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000855547.1",
"gene_hgnc_id": 13744,
"gene_symbol": "HERPUD1",
"hgvs_c": "c.283C>G",
"hgvs_p": "p.Pro95Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525606.1",
"strand": true,
"transcript": "ENST00000855547.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 349,
"aa_ref": "P",
"aa_start": 53,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3777,
"cdna_start": 1310,
"cds_end": null,
"cds_length": 1050,
"cds_start": 157,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001436351.1",
"gene_hgnc_id": 13744,
"gene_symbol": "HERPUD1",
"hgvs_c": "c.157C>G",
"hgvs_p": "p.Pro53Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001423280.1",
"strand": true,
"transcript": "NM_001436351.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 325,
"aa_ref": "A",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2855,
"cdna_start": 386,
"cds_end": null,
"cds_length": 978,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001436352.1",
"gene_hgnc_id": 13744,
"gene_symbol": "HERPUD1",
"hgvs_c": "c.83C>G",
"hgvs_p": "p.Ala28Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001423281.1",
"strand": true,
"transcript": "NM_001436352.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 298,
"aa_ref": "P",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3622,
"cdna_start": 1155,
"cds_end": null,
"cds_length": 897,
"cds_start": 4,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001436353.1",
"gene_hgnc_id": 13744,
"gene_symbol": "HERPUD1",
"hgvs_c": "c.4C>G",
"hgvs_p": "p.Pro2Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001423282.1",
"strand": true,
"transcript": "NM_001436353.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 298,
"aa_ref": "P",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3260,
"cdna_start": 793,
"cds_end": null,
"cds_length": 897,
"cds_start": 4,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001436354.1",
"gene_hgnc_id": 13744,
"gene_symbol": "HERPUD1",
"hgvs_c": "c.4C>G",
"hgvs_p": "p.Pro2Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001423283.1",
"strand": true,
"transcript": "NM_001436354.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 297,
"aa_ref": "P",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2571,
"cdna_start": 386,
"cds_end": null,
"cds_length": 894,
"cds_start": 283,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001436355.1",
"gene_hgnc_id": 13744,
"gene_symbol": "HERPUD1",
"hgvs_c": "c.283C>G",
"hgvs_p": "p.Pro95Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001423284.1",
"strand": true,
"transcript": "NM_001436355.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 275,
"aa_ref": "P",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2696,
"cdna_start": 386,
"cds_end": null,
"cds_length": 828,
"cds_start": 283,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001272103.2",
"gene_hgnc_id": 13744,
"gene_symbol": "HERPUD1",
"hgvs_c": "c.283C>G",
"hgvs_p": "p.Pro95Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001259032.1",
"strand": true,
"transcript": "NM_001272103.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 233,
"aa_ref": "P",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1418,
"cdna_start": 386,
"cds_end": null,
"cds_length": 702,
"cds_start": 283,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000855546.1",
"gene_hgnc_id": 13744,
"gene_symbol": "HERPUD1",
"hgvs_c": "c.283C>G",
"hgvs_p": "p.Pro95Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525605.1",
"strand": true,
"transcript": "ENST00000855546.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 159,
"aa_ref": "P",
"aa_start": 53,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 567,
"cdna_start": 244,
"cds_end": null,
"cds_length": 480,
"cds_start": 157,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000563343.5",
"gene_hgnc_id": 13744,
"gene_symbol": "HERPUD1",
"hgvs_c": "c.157C>G",
"hgvs_p": "p.Pro53Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455094.1",
"strand": true,
"transcript": "ENST00000563343.5",
"transcript_support_level": 4
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 108,
"aa_ref": "P",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 751,
"cdna_start": 57,
"cds_end": null,
"cds_length": 327,
"cds_start": 55,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000568358.1",
"gene_hgnc_id": 13744,
"gene_symbol": "HERPUD1",
"hgvs_c": "c.55C>G",
"hgvs_p": "p.Pro19Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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