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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: 6-31892560-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31892560&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31892560,
"ref": "T",
"alt": "A",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "ENST00000375537.9",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.711A>T",
"hgvs_p": "p.Ser237Ser",
"transcript": "NM_006709.5",
"protein_id": "NP_006700.3",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 1210,
"cds_start": 711,
"cds_end": null,
"cds_length": 3633,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 3979,
"mane_select": "ENST00000375537.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.711A>T",
"hgvs_p": "p.Ser237Ser",
"transcript": "ENST00000375537.9",
"protein_id": "ENSP00000364687.4",
"transcript_support_level": 1,
"aa_start": 237,
"aa_end": null,
"aa_length": 1210,
"cds_start": 711,
"cds_end": null,
"cds_length": 3633,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 3979,
"mane_select": "NM_006709.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.882A>T",
"hgvs_p": "p.Ser294Ser",
"transcript": "ENST00000395728.7",
"protein_id": "ENSP00000379078.3",
"transcript_support_level": 1,
"aa_start": 294,
"aa_end": null,
"aa_length": 1267,
"cds_start": 882,
"cds_end": null,
"cds_length": 3804,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 4129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.882A>T",
"hgvs_p": "p.Ser294Ser",
"transcript": "NM_001363689.2",
"protein_id": "NP_001350618.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 1267,
"cds_start": 882,
"cds_end": null,
"cds_length": 3804,
"cdna_start": 1378,
"cdna_end": null,
"cdna_length": 4625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.882A>T",
"hgvs_p": "p.Ser294Ser",
"transcript": "NM_001289413.2",
"protein_id": "NP_001276342.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 1233,
"cds_start": 882,
"cds_end": null,
"cds_length": 3702,
"cdna_start": 1378,
"cdna_end": null,
"cdna_length": 4523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.882A>T",
"hgvs_p": "p.Ser294Ser",
"transcript": "ENST00000375528.8",
"protein_id": "ENSP00000364678.4",
"transcript_support_level": 2,
"aa_start": 294,
"aa_end": null,
"aa_length": 1233,
"cds_start": 882,
"cds_end": null,
"cds_length": 3702,
"cdna_start": 902,
"cdna_end": null,
"cdna_length": 4047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.711A>T",
"hgvs_p": "p.Ser237Ser",
"transcript": "NM_001395160.1",
"protein_id": "NP_001382089.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 1217,
"cds_start": 711,
"cds_end": null,
"cds_length": 3654,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 4000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.711A>T",
"hgvs_p": "p.Ser237Ser",
"transcript": "NM_001395161.1",
"protein_id": "NP_001382090.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 1189,
"cds_start": 711,
"cds_end": null,
"cds_length": 3570,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 3916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.711A>T",
"hgvs_p": "p.Ser237Ser",
"transcript": "NM_001395162.1",
"protein_id": "NP_001382091.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 1184,
"cds_start": 711,
"cds_end": null,
"cds_length": 3555,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 3901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.711A>T",
"hgvs_p": "p.Ser237Ser",
"transcript": "NM_001395163.1",
"protein_id": "NP_001382092.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 1183,
"cds_start": 711,
"cds_end": null,
"cds_length": 3552,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 3898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.711A>T",
"hgvs_p": "p.Ser237Ser",
"transcript": "NM_025256.7",
"protein_id": "NP_079532.5",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 1176,
"cds_start": 711,
"cds_end": null,
"cds_length": 3531,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 3877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.711A>T",
"hgvs_p": "p.Ser237Ser",
"transcript": "ENST00000375530.8",
"protein_id": "ENSP00000364680.4",
"transcript_support_level": 5,
"aa_start": 237,
"aa_end": null,
"aa_length": 1176,
"cds_start": 711,
"cds_end": null,
"cds_length": 3531,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 3856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.711A>T",
"hgvs_p": "p.Ser237Ser",
"transcript": "NM_001395164.1",
"protein_id": "NP_001382093.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 1175,
"cds_start": 711,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 3874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.84A>T",
"hgvs_p": "p.Ser28Ser",
"transcript": "NM_001318833.2",
"protein_id": "NP_001305762.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 1008,
"cds_start": 84,
"cds_end": null,
"cds_length": 3027,
"cdna_start": 1033,
"cdna_end": null,
"cdna_length": 4301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.1245A>T",
"hgvs_p": "p.Ser415Ser",
"transcript": "XM_006714974.2",
"protein_id": "XP_006715037.2",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 1395,
"cds_start": 1245,
"cds_end": null,
"cds_length": 4188,
"cdna_start": 1378,
"cdna_end": null,
"cdna_length": 4646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.1245A>T",
"hgvs_p": "p.Ser415Ser",
"transcript": "XM_006714975.2",
"protein_id": "XP_006715038.2",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 1361,
"cds_start": 1245,
"cds_end": null,
"cds_length": 4086,
"cdna_start": 1378,
"cdna_end": null,
"cdna_length": 4544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "n.405A>T",
"hgvs_p": null,
"transcript": "ENST00000463484.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "n.672A>T",
"hgvs_p": null,
"transcript": "ENST00000480912.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.708+134A>T",
"hgvs_p": null,
"transcript": "NM_001395165.1",
"protein_id": "NP_001382094.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1124,
"cds_start": -4,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"dbsnp": "rs535586",
"frequency_reference_population": 6.846389e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84639e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6899999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -6.543,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000375537.9",
"gene_symbol": "EHMT2",
"hgnc_id": 14129,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.711A>T",
"hgvs_p": "p.Ser237Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}