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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: 6-31882944-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31882944&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "EHMT2",
"hgnc_id": 14129,
"hgvs_c": "c.3231G>C",
"hgvs_p": "p.Ala1077Ala",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_001363689.2",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "EHMT2-AS1",
"hgnc_id": 39751,
"hgvs_c": "n.1311C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NR_174947.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.85,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8500000238418579,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1210,
"aa_ref": "A",
"aa_start": 1020,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3979,
"cdna_start": 3081,
"cds_end": null,
"cds_length": 3633,
"cds_start": 3060,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_006709.5",
"gene_hgnc_id": 14129,
"gene_symbol": "EHMT2",
"hgvs_c": "c.3060G>C",
"hgvs_p": "p.Ala1020Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000375537.9",
"protein_coding": true,
"protein_id": "NP_006700.3",
"strand": false,
"transcript": "NM_006709.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1210,
"aa_ref": "A",
"aa_start": 1020,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3979,
"cdna_start": 3081,
"cds_end": null,
"cds_length": 3633,
"cds_start": 3060,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000375537.9",
"gene_hgnc_id": 14129,
"gene_symbol": "EHMT2",
"hgvs_c": "c.3060G>C",
"hgvs_p": "p.Ala1020Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006709.5",
"protein_coding": true,
"protein_id": "ENSP00000364687.4",
"strand": false,
"transcript": "ENST00000375537.9",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1267,
"aa_ref": "A",
"aa_start": 1077,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4129,
"cdna_start": 3231,
"cds_end": null,
"cds_length": 3804,
"cds_start": 3231,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000395728.7",
"gene_hgnc_id": 14129,
"gene_symbol": "EHMT2",
"hgvs_c": "c.3231G>C",
"hgvs_p": "p.Ala1077Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379078.3",
"strand": false,
"transcript": "ENST00000395728.7",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1267,
"aa_ref": "A",
"aa_start": 1077,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4625,
"cdna_start": 3727,
"cds_end": null,
"cds_length": 3804,
"cds_start": 3231,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001363689.2",
"gene_hgnc_id": 14129,
"gene_symbol": "EHMT2",
"hgvs_c": "c.3231G>C",
"hgvs_p": "p.Ala1077Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350618.1",
"strand": false,
"transcript": "NM_001363689.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1251,
"aa_ref": "A",
"aa_start": 1020,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4077,
"cdna_start": 3069,
"cds_end": null,
"cds_length": 3756,
"cds_start": 3060,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000962959.1",
"gene_hgnc_id": 14129,
"gene_symbol": "EHMT2",
"hgvs_c": "c.3060G>C",
"hgvs_p": "p.Ala1020Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633018.1",
"strand": false,
"transcript": "ENST00000962959.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1241,
"aa_ref": "A",
"aa_start": 1051,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4045,
"cdna_start": 3153,
"cds_end": null,
"cds_length": 3726,
"cds_start": 3153,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000962960.1",
"gene_hgnc_id": 14129,
"gene_symbol": "EHMT2",
"hgvs_c": "c.3153G>C",
"hgvs_p": "p.Ala1051Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633019.1",
"strand": false,
"transcript": "ENST00000962960.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1240,
"aa_ref": "A",
"aa_start": 1020,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4067,
"cdna_start": 3085,
"cds_end": null,
"cds_length": 3723,
"cds_start": 3060,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000892701.1",
"gene_hgnc_id": 14129,
"gene_symbol": "EHMT2",
"hgvs_c": "c.3060G>C",
"hgvs_p": "p.Ala1020Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562760.1",
"strand": false,
"transcript": "ENST00000892701.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1233,
"aa_ref": "A",
"aa_start": 1043,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4523,
"cdna_start": 3625,
"cds_end": null,
"cds_length": 3702,
"cds_start": 3129,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001289413.2",
"gene_hgnc_id": 14129,
"gene_symbol": "EHMT2",
"hgvs_c": "c.3129G>C",
"hgvs_p": "p.Ala1043Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276342.1",
"strand": false,
"transcript": "NM_001289413.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1233,
"aa_ref": "A",
"aa_start": 1043,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4047,
"cdna_start": 3149,
"cds_end": null,
"cds_length": 3702,
"cds_start": 3129,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000375528.8",
"gene_hgnc_id": 14129,
"gene_symbol": "EHMT2",
"hgvs_c": "c.3129G>C",
"hgvs_p": "p.Ala1043Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364678.4",
"strand": false,
"transcript": "ENST00000375528.8",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1227,
"aa_ref": "A",
"aa_start": 1037,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4031,
"cdna_start": 3133,
"cds_end": null,
"cds_length": 3684,
"cds_start": 3111,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000892698.1",
"gene_hgnc_id": 14129,
"gene_symbol": "EHMT2",
"hgvs_c": "c.3111G>C",
"hgvs_p": "p.Ala1037Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562757.1",
"strand": false,
"transcript": "ENST00000892698.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1219,
"aa_ref": "A",
"aa_start": 1029,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3995,
"cdna_start": 3097,
"cds_end": null,
"cds_length": 3660,
"cds_start": 3087,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000892705.1",
"gene_hgnc_id": 14129,
"gene_symbol": "EHMT2",
"hgvs_c": "c.3087G>C",
"hgvs_p": "p.Ala1029Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562764.1",
"strand": false,
"transcript": "ENST00000892705.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1217,
"aa_ref": "A",
"aa_start": 1027,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4000,
"cdna_start": 3102,
"cds_end": null,
"cds_length": 3654,
"cds_start": 3081,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001395160.1",
"gene_hgnc_id": 14129,
"gene_symbol": "EHMT2",
"hgvs_c": "c.3081G>C",
"hgvs_p": "p.Ala1027Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382089.1",
"strand": false,
"transcript": "NM_001395160.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1217,
"aa_ref": "A",
"aa_start": 1027,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4025,
"cdna_start": 3127,
"cds_end": null,
"cds_length": 3654,
"cds_start": 3081,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000892695.1",
"gene_hgnc_id": 14129,
"gene_symbol": "EHMT2",
"hgvs_c": "c.3081G>C",
"hgvs_p": "p.Ala1027Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562754.1",
"strand": false,
"transcript": "ENST00000892695.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1216,
"aa_ref": "A",
"aa_start": 1026,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3993,
"cdna_start": 3095,
"cds_end": null,
"cds_length": 3651,
"cds_start": 3078,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000920078.1",
"gene_hgnc_id": 14129,
"gene_symbol": "EHMT2",
"hgvs_c": "c.3078G>C",
"hgvs_p": "p.Ala1026Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590137.1",
"strand": false,
"transcript": "ENST00000920078.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1209,
"aa_ref": "A",
"aa_start": 1019,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3981,
"cdna_start": 3082,
"cds_end": null,
"cds_length": 3630,
"cds_start": 3057,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000920074.1",
"gene_hgnc_id": 14129,
"gene_symbol": "EHMT2",
"hgvs_c": "c.3057G>C",
"hgvs_p": "p.Ala1019Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590133.1",
"strand": false,
"transcript": "ENST00000920074.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1209,
"aa_ref": "A",
"aa_start": 1019,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3973,
"cdna_start": 3075,
"cds_end": null,
"cds_length": 3630,
"cds_start": 3057,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000920076.1",
"gene_hgnc_id": 14129,
"gene_symbol": "EHMT2",
"hgvs_c": "c.3057G>C",
"hgvs_p": "p.Ala1019Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590135.1",
"strand": false,
"transcript": "ENST00000920076.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1209,
"aa_ref": "A",
"aa_start": 1019,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3975,
"cdna_start": 3077,
"cds_end": null,
"cds_length": 3630,
"cds_start": 3057,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000962957.1",
"gene_hgnc_id": 14129,
"gene_symbol": "EHMT2",
"hgvs_c": "c.3057G>C",
"hgvs_p": "p.Ala1019Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633016.1",
"strand": false,
"transcript": "ENST00000962957.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1199,
"aa_ref": "A",
"aa_start": 1009,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3947,
"cdna_start": 3049,
"cds_end": null,
"cds_length": 3600,
"cds_start": 3027,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000892700.1",
"gene_hgnc_id": 14129,
"gene_symbol": "EHMT2",
"hgvs_c": "c.3027G>C",
"hgvs_p": "p.Ala1009Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562759.1",
"strand": false,
"transcript": "ENST00000892700.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1195,
"aa_ref": "A",
"aa_start": 1005,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3930,
"cdna_start": 3032,
"cds_end": null,
"cds_length": 3588,
"cds_start": 3015,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000892703.1",
"gene_hgnc_id": 14129,
"gene_symbol": "EHMT2",
"hgvs_c": "c.3015G>C",
"hgvs_p": "p.Ala1005Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562762.1",
"strand": false,
"transcript": "ENST00000892703.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1189,
"aa_ref": "A",
"aa_start": 999,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3916,
"cdna_start": 3018,
"cds_end": null,
"cds_length": 3570,
"cds_start": 2997,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001395161.1",
"gene_hgnc_id": 14129,
"gene_symbol": "EHMT2",
"hgvs_c": "c.2997G>C",
"hgvs_p": "p.Ala999Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382090.1",
"strand": false,
"transcript": "NM_001395161.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
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