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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: 14-45204435-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=45204435&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 45204435,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_018353.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.3259A>G",
"hgvs_p": "p.Thr1087Ala",
"transcript": "NM_018353.5",
"protein_id": "NP_060823.3",
"transcript_support_level": null,
"aa_start": 1087,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3259,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000310806.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018353.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.3259A>G",
"hgvs_p": "p.Thr1087Ala",
"transcript": "ENST00000310806.9",
"protein_id": "ENSP00000309790.4",
"transcript_support_level": 1,
"aa_start": 1087,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3259,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018353.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310806.9"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.3304A>G",
"hgvs_p": "p.Thr1102Ala",
"transcript": "ENST00000919501.1",
"protein_id": "ENSP00000589560.1",
"transcript_support_level": null,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1147,
"cds_start": 3304,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919501.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.3259A>G",
"hgvs_p": "p.Thr1087Ala",
"transcript": "ENST00000901126.1",
"protein_id": "ENSP00000571185.1",
"transcript_support_level": null,
"aa_start": 1087,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3259,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901126.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.3259A>G",
"hgvs_p": "p.Thr1087Ala",
"transcript": "ENST00000919496.1",
"protein_id": "ENSP00000589555.1",
"transcript_support_level": null,
"aa_start": 1087,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3259,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919496.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.3259A>G",
"hgvs_p": "p.Thr1087Ala",
"transcript": "ENST00000919499.1",
"protein_id": "ENSP00000589558.1",
"transcript_support_level": null,
"aa_start": 1087,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3259,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919499.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.3259A>G",
"hgvs_p": "p.Thr1087Ala",
"transcript": "ENST00000952537.1",
"protein_id": "ENSP00000622596.1",
"transcript_support_level": null,
"aa_start": 1087,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3259,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952537.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.3214A>G",
"hgvs_p": "p.Thr1072Ala",
"transcript": "ENST00000919495.1",
"protein_id": "ENSP00000589554.1",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3214,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919495.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.3040A>G",
"hgvs_p": "p.Thr1014Ala",
"transcript": "ENST00000919498.1",
"protein_id": "ENSP00000589557.1",
"transcript_support_level": null,
"aa_start": 1014,
"aa_end": null,
"aa_length": 1059,
"cds_start": 3040,
"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": "ENST00000919498.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.3022A>G",
"hgvs_p": "p.Thr1008Ala",
"transcript": "ENST00000919502.1",
"protein_id": "ENSP00000589561.1",
"transcript_support_level": null,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1053,
"cds_start": 3022,
"cds_end": null,
"cds_length": 3162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919502.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.3013A>G",
"hgvs_p": "p.Thr1005Ala",
"transcript": "ENST00000919497.1",
"protein_id": "ENSP00000589556.1",
"transcript_support_level": null,
"aa_start": 1005,
"aa_end": null,
"aa_length": 1050,
"cds_start": 3013,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919497.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.2788A>G",
"hgvs_p": "p.Thr930Ala",
"transcript": "ENST00000919500.1",
"protein_id": "ENSP00000589559.1",
"transcript_support_level": null,
"aa_start": 930,
"aa_end": null,
"aa_length": 975,
"cds_start": 2788,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919500.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.2776A>G",
"hgvs_p": "p.Thr926Ala",
"transcript": "ENST00000919503.1",
"protein_id": "ENSP00000589562.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 971,
"cds_start": 2776,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919503.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.3259A>G",
"hgvs_p": "p.Thr1087Ala",
"transcript": "XM_005267833.6",
"protein_id": "XP_005267890.1",
"transcript_support_level": null,
"aa_start": 1087,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3259,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267833.6"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.3259A>G",
"hgvs_p": "p.Thr1087Ala",
"transcript": "XM_017021425.2",
"protein_id": "XP_016876914.1",
"transcript_support_level": null,
"aa_start": 1087,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3259,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021425.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.3259A>G",
"hgvs_p": "p.Thr1087Ala",
"transcript": "XM_047431545.1",
"protein_id": "XP_047287501.1",
"transcript_support_level": null,
"aa_start": 1087,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3259,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431545.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.3259A>G",
"hgvs_p": "p.Thr1087Ala",
"transcript": "XM_047431546.1",
"protein_id": "XP_047287502.1",
"transcript_support_level": null,
"aa_start": 1087,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3259,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431546.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.2095A>G",
"hgvs_p": "p.Thr699Ala",
"transcript": "XM_011536923.1",
"protein_id": "XP_011535225.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 744,
"cds_start": 2095,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536923.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "n.381A>G",
"hgvs_p": null,
"transcript": "ENST00000470424.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000470424.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "n.211A>G",
"hgvs_p": null,
"transcript": "ENST00000496413.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000496413.1"
}
],
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"dbsnp": "rs766982048",
"frequency_reference_population": 0.000009641077,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000964108,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05654916167259216,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.041,
"revel_prediction": "Benign",
"alphamissense_score": 0.0956,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.017,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_018353.5",
"gene_symbol": "MIS18BP1",
"hgnc_id": 20190,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3259A>G",
"hgvs_p": "p.Thr1087Ala"
}
],
"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
}