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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: 16-56913277-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=56913277&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1_Very_Strong",
"PM2",
"PM5",
"PP2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC12A3",
"hgnc_id": 10912,
"hgvs_c": "c.2965G>C",
"hgvs_p": "p.Gly989Arg",
"inheritance_mode": "AR",
"pathogenic_score": 14,
"score": 14,
"transcript": "NM_000339.3",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS1_Very_Strong,PM2,PM5,PP2,PP3",
"acmg_score": 14,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.7543,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.24,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8283809423446655,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1021,
"aa_ref": "G",
"aa_start": 980,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5540,
"cdna_start": 2967,
"cds_end": null,
"cds_length": 3066,
"cds_start": 2938,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001126108.2",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2938G>C",
"hgvs_p": "p.Gly980Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000563236.6",
"protein_coding": true,
"protein_id": "NP_001119580.2",
"strand": true,
"transcript": "NM_001126108.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1021,
"aa_ref": "G",
"aa_start": 980,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5540,
"cdna_start": 2967,
"cds_end": null,
"cds_length": 3066,
"cds_start": 2938,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000563236.6",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2938G>C",
"hgvs_p": "p.Gly980Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001126108.2",
"protein_coding": true,
"protein_id": "ENSP00000456149.2",
"strand": true,
"transcript": "ENST00000563236.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1030,
"aa_ref": "G",
"aa_start": 989,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5567,
"cdna_start": 2994,
"cds_end": null,
"cds_length": 3093,
"cds_start": 2965,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000438926.6",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2965G>C",
"hgvs_p": "p.Gly989Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402152.2",
"strand": true,
"transcript": "ENST00000438926.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1029,
"aa_ref": "G",
"aa_start": 988,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3119,
"cdna_start": 2991,
"cds_end": null,
"cds_length": 3090,
"cds_start": 2962,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000566786.5",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2962G>C",
"hgvs_p": "p.Gly988Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457552.1",
"strand": true,
"transcript": "ENST00000566786.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1084,
"aa_ref": "G",
"aa_start": 1043,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3434,
"cdna_start": 3156,
"cds_end": null,
"cds_length": 3255,
"cds_start": 3127,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000898227.1",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.3127G>C",
"hgvs_p": "p.Gly1043Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568286.1",
"strand": true,
"transcript": "ENST00000898227.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1059,
"aa_ref": "G",
"aa_start": 1018,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5652,
"cdna_start": 3079,
"cds_end": null,
"cds_length": 3180,
"cds_start": 3052,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000898208.1",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.3052G>C",
"hgvs_p": "p.Gly1018Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568267.1",
"strand": true,
"transcript": "ENST00000898208.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1056,
"aa_ref": "G",
"aa_start": 1015,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5645,
"cdna_start": 3072,
"cds_end": null,
"cds_length": 3171,
"cds_start": 3043,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000898207.1",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.3043G>C",
"hgvs_p": "p.Gly1015Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568266.1",
"strand": true,
"transcript": "ENST00000898207.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1055,
"aa_ref": "G",
"aa_start": 1014,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4315,
"cdna_start": 3068,
"cds_end": null,
"cds_length": 3168,
"cds_start": 3040,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000898218.1",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.3040G>C",
"hgvs_p": "p.Gly1014Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568277.1",
"strand": true,
"transcript": "ENST00000898218.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1030,
"aa_ref": "G",
"aa_start": 989,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5567,
"cdna_start": 2994,
"cds_end": null,
"cds_length": 3093,
"cds_start": 2965,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_000339.3",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2965G>C",
"hgvs_p": "p.Gly989Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000330.3",
"strand": true,
"transcript": "NM_000339.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1029,
"aa_ref": "G",
"aa_start": 988,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5564,
"cdna_start": 2991,
"cds_end": null,
"cds_length": 3090,
"cds_start": 2962,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001126107.2",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2962G>C",
"hgvs_p": "p.Gly988Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001119579.2",
"strand": true,
"transcript": "NM_001126107.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1026,
"aa_ref": "G",
"aa_start": 985,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4225,
"cdna_start": 2980,
"cds_end": null,
"cds_length": 3081,
"cds_start": 2953,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000898221.1",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2953G>C",
"hgvs_p": "p.Gly985Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568280.1",
"strand": true,
"transcript": "ENST00000898221.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1020,
"aa_ref": "G",
"aa_start": 979,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5537,
"cdna_start": 2964,
"cds_end": null,
"cds_length": 3063,
"cds_start": 2935,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001410896.1",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2935G>C",
"hgvs_p": "p.Gly979Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397825.1",
"strand": true,
"transcript": "NM_001410896.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1020,
"aa_ref": "G",
"aa_start": 979,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4208,
"cdna_start": 2960,
"cds_end": null,
"cds_length": 3063,
"cds_start": 2935,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000262502.5",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2935G>C",
"hgvs_p": "p.Gly979Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000262502.5",
"strand": true,
"transcript": "ENST00000262502.5",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1016,
"aa_ref": "G",
"aa_start": 975,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4196,
"cdna_start": 2947,
"cds_end": null,
"cds_length": 3051,
"cds_start": 2923,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000898220.1",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2923G>C",
"hgvs_p": "p.Gly975Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568279.1",
"strand": true,
"transcript": "ENST00000898220.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1003,
"aa_ref": "G",
"aa_start": 962,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3656,
"cdna_start": 2911,
"cds_end": null,
"cds_length": 3012,
"cds_start": 2884,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000898226.1",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2884G>C",
"hgvs_p": "p.Gly962Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568285.1",
"strand": true,
"transcript": "ENST00000898226.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 997,
"aa_ref": "G",
"aa_start": 956,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4140,
"cdna_start": 2895,
"cds_end": null,
"cds_length": 2994,
"cds_start": 2866,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000898219.1",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2866G>C",
"hgvs_p": "p.Gly956Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568278.1",
"strand": true,
"transcript": "ENST00000898219.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 996,
"aa_ref": "G",
"aa_start": 955,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4139,
"cdna_start": 2890,
"cds_end": null,
"cds_length": 2991,
"cds_start": 2863,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000898215.1",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2863G>C",
"hgvs_p": "p.Gly955Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568274.1",
"strand": true,
"transcript": "ENST00000898215.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 995,
"aa_ref": "G",
"aa_start": 954,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4136,
"cdna_start": 2887,
"cds_end": null,
"cds_length": 2988,
"cds_start": 2860,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000898213.1",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2860G>C",
"hgvs_p": "p.Gly954Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568272.1",
"strand": true,
"transcript": "ENST00000898213.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 989,
"aa_ref": "G",
"aa_start": 948,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4118,
"cdna_start": 2869,
"cds_end": null,
"cds_length": 2970,
"cds_start": 2842,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000898214.1",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2842G>C",
"hgvs_p": "p.Gly948Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568273.1",
"strand": true,
"transcript": "ENST00000898214.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 988,
"aa_ref": "G",
"aa_start": 947,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4115,
"cdna_start": 2866,
"cds_end": null,
"cds_length": 2967,
"cds_start": 2839,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000898217.1",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2839G>C",
"hgvs_p": "p.Gly947Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568276.1",
"strand": true,
"transcript": "ENST00000898217.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 987,
"aa_ref": "G",
"aa_start": 946,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5398,
"cdna_start": 2863,
"cds_end": null,
"cds_length": 2964,
"cds_start": 2836,
"consequences": [
"missense_variant"
],
"exon_count": 25,
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