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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: 18-79069427-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=79069427&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 79069427,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_198531.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Pro6Leu",
"transcript": "NM_198531.5",
"protein_id": "NP_940933.3",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 1147,
"cds_start": 17,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000426216.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198531.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Pro6Leu",
"transcript": "ENST00000426216.6",
"protein_id": "ENSP00000398076.2",
"transcript_support_level": 5,
"aa_start": 6,
"aa_end": null,
"aa_length": 1147,
"cds_start": 17,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198531.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426216.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Pro6Leu",
"transcript": "ENST00000307671.12",
"protein_id": "ENSP00000304500.7",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 1136,
"cds_start": 17,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307671.12"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Pro6Leu",
"transcript": "ENST00000586722.5",
"protein_id": "ENSP00000466992.1",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 188,
"cds_start": 17,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586722.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.-157C>T",
"hgvs_p": null,
"transcript": "XM_011525963.3",
"protein_id": "XP_011524265.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1174,
"cds_start": null,
"cds_end": null,
"cds_length": 3525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525963.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.-157C>T",
"hgvs_p": null,
"transcript": "XM_017025726.2",
"protein_id": "XP_016881215.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1169,
"cds_start": null,
"cds_end": null,
"cds_length": 3510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025726.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.-157C>T",
"hgvs_p": null,
"transcript": "XM_017025727.2",
"protein_id": "XP_016881216.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1163,
"cds_start": null,
"cds_end": null,
"cds_length": 3492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025727.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.-157C>T",
"hgvs_p": null,
"transcript": "XM_017025728.3",
"protein_id": "XP_016881217.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1148,
"cds_start": null,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025728.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.-157C>T",
"hgvs_p": null,
"transcript": "XM_017025729.2",
"protein_id": "XP_016881218.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1145,
"cds_start": null,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025729.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.-157C>T",
"hgvs_p": null,
"transcript": "XM_017025730.2",
"protein_id": "XP_016881219.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1137,
"cds_start": null,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025730.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.-157C>T",
"hgvs_p": null,
"transcript": "XM_017025731.2",
"protein_id": "XP_016881220.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1133,
"cds_start": null,
"cds_end": null,
"cds_length": 3402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025731.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.-157C>T",
"hgvs_p": null,
"transcript": "XM_017025732.2",
"protein_id": "XP_016881221.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1107,
"cds_start": null,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025732.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.-157C>T",
"hgvs_p": null,
"transcript": "XM_017025733.2",
"protein_id": "XP_016881222.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1096,
"cds_start": null,
"cds_end": null,
"cds_length": 3291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025733.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.-157C>T",
"hgvs_p": null,
"transcript": "XM_017025734.2",
"protein_id": "XP_016881223.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1067,
"cds_start": null,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025734.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.-157C>T",
"hgvs_p": null,
"transcript": "XM_017025735.3",
"protein_id": "XP_016881224.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1059,
"cds_start": null,
"cds_end": null,
"cds_length": 3180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025735.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.-157C>T",
"hgvs_p": null,
"transcript": "XM_047437495.1",
"protein_id": "XP_047293451.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1057,
"cds_start": null,
"cds_end": null,
"cds_length": 3174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437495.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.-157C>T",
"hgvs_p": null,
"transcript": "XM_017025736.3",
"protein_id": "XP_016881225.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1045,
"cds_start": null,
"cds_end": null,
"cds_length": 3138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025736.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.-157C>T",
"hgvs_p": null,
"transcript": "XM_047437496.1",
"protein_id": "XP_047293452.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1042,
"cds_start": null,
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"cds_length": 3129,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437496.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.-157C>T",
"hgvs_p": null,
"transcript": "XM_017025737.2",
"protein_id": "XP_016881226.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1033,
"cds_start": null,
"cds_end": null,
"cds_length": 3102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025737.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.-157C>T",
"hgvs_p": null,
"transcript": "XM_017025742.2",
"protein_id": "XP_016881231.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 696,
"cds_start": null,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025742.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Pro6Leu",
"transcript": "ENST00000963364.1",
"protein_id": "ENSP00000633423.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 1175,
"cds_start": 17,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963364.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Pro6Leu",
"transcript": "ENST00000899993.1",
"protein_id": "ENSP00000570052.1",
"transcript_support_level": null,
"aa_start": 6,
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.276,
"revel_prediction": "Benign",
"alphamissense_score": 0.4516,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.562,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_198531.5",
"gene_symbol": "ATP9B",
"hgnc_id": 13541,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Pro6Leu"
}
],
"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
}