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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: 2-74172630-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=74172630&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 74172630,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001317111.2",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOB1A",
"gene_hgnc_id": 16015,
"hgvs_c": "c.137T>C",
"hgvs_p": "p.Met46Thr",
"transcript": "NM_018221.5",
"protein_id": "NP_060691.2",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 216,
"cds_start": 137,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000396049.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018221.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOB1A",
"gene_hgnc_id": 16015,
"hgvs_c": "c.137T>C",
"hgvs_p": "p.Met46Thr",
"transcript": "ENST00000396049.5",
"protein_id": "ENSP00000379364.3",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 216,
"cds_start": 137,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018221.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396049.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOB1A",
"gene_hgnc_id": 16015,
"hgvs_c": "c.263T>C",
"hgvs_p": "p.Met88Thr",
"transcript": "NM_001317111.2",
"protein_id": "NP_001304040.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 258,
"cds_start": 263,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317111.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOB1A",
"gene_hgnc_id": 16015,
"hgvs_c": "c.134T>C",
"hgvs_p": "p.Met45Thr",
"transcript": "ENST00000882072.1",
"protein_id": "ENSP00000552131.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 228,
"cds_start": 134,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882072.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOB1A",
"gene_hgnc_id": 16015,
"hgvs_c": "c.134T>C",
"hgvs_p": "p.Met45Thr",
"transcript": "NM_001317110.2",
"protein_id": "NP_001304039.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 215,
"cds_start": 134,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317110.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOB1A",
"gene_hgnc_id": 16015,
"hgvs_c": "c.134T>C",
"hgvs_p": "p.Met45Thr",
"transcript": "ENST00000882070.1",
"protein_id": "ENSP00000552129.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 215,
"cds_start": 134,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882070.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOB1A",
"gene_hgnc_id": 16015,
"hgvs_c": "c.137T>C",
"hgvs_p": "p.Met46Thr",
"transcript": "ENST00000925501.1",
"protein_id": "ENSP00000595560.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 215,
"cds_start": 137,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925501.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOB1A",
"gene_hgnc_id": 16015,
"hgvs_c": "c.131T>C",
"hgvs_p": "p.Met44Thr",
"transcript": "ENST00000925502.1",
"protein_id": "ENSP00000595561.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 214,
"cds_start": 131,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925502.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOB1A",
"gene_hgnc_id": 16015,
"hgvs_c": "c.137T>C",
"hgvs_p": "p.Met46Thr",
"transcript": "ENST00000925503.1",
"protein_id": "ENSP00000595562.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 200,
"cds_start": 137,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925503.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOB1A",
"gene_hgnc_id": 16015,
"hgvs_c": "c.137T>C",
"hgvs_p": "p.Met46Thr",
"transcript": "ENST00000882071.1",
"protein_id": "ENSP00000552130.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 140,
"cds_start": 137,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882071.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOB1A",
"gene_hgnc_id": 16015,
"hgvs_c": "c.137T>C",
"hgvs_p": "p.Met46Thr",
"transcript": "NM_001317112.2",
"protein_id": "NP_001304041.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 138,
"cds_start": 137,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317112.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOB1A",
"gene_hgnc_id": 16015,
"hgvs_c": "c.263T>C",
"hgvs_p": "p.Met88Thr",
"transcript": "XM_047444894.1",
"protein_id": "XP_047300850.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 180,
"cds_start": 263,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444894.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOB1A",
"gene_hgnc_id": 16015,
"hgvs_c": "n.331T>C",
"hgvs_p": null,
"transcript": "ENST00000463975.1",
"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": "ENST00000463975.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOB1A",
"gene_hgnc_id": 16015,
"hgvs_c": "n.323T>C",
"hgvs_p": null,
"transcript": "ENST00000495286.5",
"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": "pseudogene",
"feature": "ENST00000495286.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOB1A",
"gene_hgnc_id": 16015,
"hgvs_c": "n.326T>C",
"hgvs_p": null,
"transcript": "ENST00000497054.5",
"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": "pseudogene",
"feature": "ENST00000497054.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOB1A",
"gene_hgnc_id": 16015,
"hgvs_c": "n.*46T>C",
"hgvs_p": null,
"transcript": "ENST00000488006.1",
"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": "pseudogene",
"feature": "ENST00000488006.1"
}
],
"gene_symbol": "MOB1A",
"gene_hgnc_id": 16015,
"dbsnp": "rs760795980",
"frequency_reference_population": 0.0000068160834,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000615757,
"gnomad_genomes_af": 0.0000131394,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5594090223312378,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.253,
"revel_prediction": "Benign",
"alphamissense_score": 0.1565,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.533,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001317111.2",
"gene_symbol": "MOB1A",
"hgnc_id": 16015,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.263T>C",
"hgvs_p": "p.Met88Thr"
}
],
"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
}