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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: 18-79069441-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=79069441&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ATP9B",
"hgnc_id": 13541,
"hgvs_c": "c.31C>G",
"hgvs_p": "p.Arg11Gly",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_198531.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.2594,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.22,
"chr": "18",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.4018435478210449,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1147,
"aa_ref": "R",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4361,
"cdna_start": 48,
"cds_end": null,
"cds_length": 3444,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_198531.5",
"gene_hgnc_id": 13541,
"gene_symbol": "ATP9B",
"hgvs_c": "c.31C>G",
"hgvs_p": "p.Arg11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000426216.6",
"protein_coding": true,
"protein_id": "NP_940933.3",
"strand": true,
"transcript": "NM_198531.5",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1147,
"aa_ref": "R",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4361,
"cdna_start": 48,
"cds_end": null,
"cds_length": 3444,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000426216.6",
"gene_hgnc_id": 13541,
"gene_symbol": "ATP9B",
"hgvs_c": "c.31C>G",
"hgvs_p": "p.Arg11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_198531.5",
"protein_coding": true,
"protein_id": "ENSP00000398076.2",
"strand": true,
"transcript": "ENST00000426216.6",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1136,
"aa_ref": "R",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4329,
"cdna_start": 45,
"cds_end": null,
"cds_length": 3411,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000307671.12",
"gene_hgnc_id": 13541,
"gene_symbol": "ATP9B",
"hgvs_c": "c.31C>G",
"hgvs_p": "p.Arg11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000304500.7",
"strand": true,
"transcript": "ENST00000307671.12",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 188,
"aa_ref": "R",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1650,
"cdna_start": 34,
"cds_end": null,
"cds_length": 567,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000586722.5",
"gene_hgnc_id": 13541,
"gene_symbol": "ATP9B",
"hgvs_c": "c.31C>G",
"hgvs_p": "p.Arg11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466992.1",
"strand": true,
"transcript": "ENST00000586722.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1173,
"aa_ref": "R",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4359,
"cdna_start": 36,
"cds_end": null,
"cds_length": 3522,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000899993.1",
"gene_hgnc_id": 13541,
"gene_symbol": "ATP9B",
"hgvs_c": "c.31C>G",
"hgvs_p": "p.Arg11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570052.1",
"strand": true,
"transcript": "ENST00000899993.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1162,
"aa_ref": "R",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4510,
"cdna_start": 170,
"cds_end": null,
"cds_length": 3489,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000899989.1",
"gene_hgnc_id": 13541,
"gene_symbol": "ATP9B",
"hgvs_c": "c.31C>G",
"hgvs_p": "p.Arg11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570048.1",
"strand": true,
"transcript": "ENST00000899989.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1146,
"aa_ref": "R",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4237,
"cdna_start": 56,
"cds_end": null,
"cds_length": 3441,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000963365.1",
"gene_hgnc_id": 13541,
"gene_symbol": "ATP9B",
"hgvs_c": "c.31C>G",
"hgvs_p": "p.Arg11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633424.1",
"strand": true,
"transcript": "ENST00000963365.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1136,
"aa_ref": "R",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4328,
"cdna_start": 48,
"cds_end": null,
"cds_length": 3411,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001306085.2",
"gene_hgnc_id": 13541,
"gene_symbol": "ATP9B",
"hgvs_c": "c.31C>G",
"hgvs_p": "p.Arg11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001293014.1",
"strand": true,
"transcript": "NM_001306085.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1134,
"aa_ref": "R",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4181,
"cdna_start": 36,
"cds_end": null,
"cds_length": 3405,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000940834.1",
"gene_hgnc_id": 13541,
"gene_symbol": "ATP9B",
"hgvs_c": "c.31C>G",
"hgvs_p": "p.Arg11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610893.1",
"strand": true,
"transcript": "ENST00000940834.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "R",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3989,
"cdna_start": 34,
"cds_end": null,
"cds_length": 3399,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000963369.1",
"gene_hgnc_id": 13541,
"gene_symbol": "ATP9B",
"hgvs_c": "c.31C>G",
"hgvs_p": "p.Arg11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633428.1",
"strand": true,
"transcript": "ENST00000963369.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1131,
"aa_ref": "R",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3989,
"cdna_start": 39,
"cds_end": null,
"cds_length": 3396,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000963368.1",
"gene_hgnc_id": 13541,
"gene_symbol": "ATP9B",
"hgvs_c": "c.31C>G",
"hgvs_p": "p.Arg11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633427.1",
"strand": true,
"transcript": "ENST00000963368.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1129,
"aa_ref": "R",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4152,
"cdna_start": 36,
"cds_end": null,
"cds_length": 3390,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000940836.1",
"gene_hgnc_id": 13541,
"gene_symbol": "ATP9B",
"hgvs_c": "c.31C>G",
"hgvs_p": "p.Arg11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610895.1",
"strand": true,
"transcript": "ENST00000940836.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1126,
"aa_ref": "R",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3970,
"cdna_start": 36,
"cds_end": null,
"cds_length": 3381,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000963370.1",
"gene_hgnc_id": 13541,
"gene_symbol": "ATP9B",
"hgvs_c": "c.31C>G",
"hgvs_p": "p.Arg11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633429.1",
"strand": true,
"transcript": "ENST00000963370.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1106,
"aa_ref": "R",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4334,
"cdna_start": 36,
"cds_end": null,
"cds_length": 3321,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000899990.1",
"gene_hgnc_id": 13541,
"gene_symbol": "ATP9B",
"hgvs_c": "c.31C>G",
"hgvs_p": "p.Arg11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570049.1",
"strand": true,
"transcript": "ENST00000899990.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1099,
"aa_ref": "R",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4083,
"cdna_start": 58,
"cds_end": null,
"cds_length": 3300,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000963366.1",
"gene_hgnc_id": 13541,
"gene_symbol": "ATP9B",
"hgvs_c": "c.31C>G",
"hgvs_p": "p.Arg11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633425.1",
"strand": true,
"transcript": "ENST00000963366.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1095,
"aa_ref": "R",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4237,
"cdna_start": 64,
"cds_end": null,
"cds_length": 3288,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000899991.1",
"gene_hgnc_id": 13541,
"gene_symbol": "ATP9B",
"hgvs_c": "c.31C>G",
"hgvs_p": "p.Arg11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570050.1",
"strand": true,
"transcript": "ENST00000899991.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1079,
"aa_ref": "R",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3868,
"cdna_start": 69,
"cds_end": null,
"cds_length": 3240,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000899995.1",
"gene_hgnc_id": 13541,
"gene_symbol": "ATP9B",
"hgvs_c": "c.31C>G",
"hgvs_p": "p.Arg11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570054.1",
"strand": true,
"transcript": "ENST00000899995.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1064,
"aa_ref": "R",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3960,
"cdna_start": 40,
"cds_end": null,
"cds_length": 3195,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000899994.1",
"gene_hgnc_id": 13541,
"gene_symbol": "ATP9B",
"hgvs_c": "c.31C>G",
"hgvs_p": "p.Arg11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570053.1",
"strand": true,
"transcript": "ENST00000899994.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "R",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4084,
"cdna_start": 51,
"cds_end": null,
"cds_length": 3177,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000899992.1",
"gene_hgnc_id": 13541,
"gene_symbol": "ATP9B",
"hgvs_c": "c.31C>G",
"hgvs_p": "p.Arg11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570051.1",
"strand": true,
"transcript": "ENST00000899992.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1053,
"aa_ref": "R",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3927,
"cdna_start": 39,
"cds_end": null,
"cds_length": 3162,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000940835.1",
"gene_hgnc_id": 13541,
"gene_symbol": "ATP9B",
"hgvs_c": "c.31C>G",
"hgvs_p": "p.Arg11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610894.1",
"strand": true,
"transcript": "ENST00000940835.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1038,
"aa_ref": "R",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3712,
"cdna_start": 36,
"cds_end": null,
"cds_length": 3117,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000963367.1",
"gene_hgnc_id": 13541,
"gene_symbol": "ATP9B",
"hgvs_c": "c.31C>G",
"hgvs_p": "p.Arg11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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