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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: 2-233816781-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=233816781&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 233816781,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001367507.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MROH2A",
"gene_hgnc_id": 27936,
"hgvs_c": "c.2857C>T",
"hgvs_p": "p.Leu953Phe",
"transcript": "NM_001394639.1",
"protein_id": "NP_001381568.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1674,
"cds_start": 2857,
"cds_end": null,
"cds_length": 5025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000389758.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394639.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MROH2A",
"gene_hgnc_id": 27936,
"hgvs_c": "c.2857C>T",
"hgvs_p": "p.Leu953Phe",
"transcript": "ENST00000389758.4",
"protein_id": "ENSP00000374408.3",
"transcript_support_level": 5,
"aa_start": 953,
"aa_end": null,
"aa_length": 1674,
"cds_start": 2857,
"cds_end": null,
"cds_length": 5025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001394639.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389758.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MROH2A",
"gene_hgnc_id": 27936,
"hgvs_c": "c.2866C>T",
"hgvs_p": "p.Leu956Phe",
"transcript": "ENST00000610772.4",
"protein_id": "ENSP00000477597.1",
"transcript_support_level": 5,
"aa_start": 956,
"aa_end": null,
"aa_length": 1688,
"cds_start": 2866,
"cds_end": null,
"cds_length": 5067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610772.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MROH2A",
"gene_hgnc_id": 27936,
"hgvs_c": "c.2857C>T",
"hgvs_p": "p.Leu953Phe",
"transcript": "NM_001367507.1",
"protein_id": "NP_001354436.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1676,
"cds_start": 2857,
"cds_end": null,
"cds_length": 5031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367507.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MROH2A",
"gene_hgnc_id": 27936,
"hgvs_c": "c.2992C>T",
"hgvs_p": "p.Leu998Phe",
"transcript": "XM_011511076.3",
"protein_id": "XP_011509378.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1721,
"cds_start": 2992,
"cds_end": null,
"cds_length": 5166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511076.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MROH2A",
"gene_hgnc_id": 27936,
"hgvs_c": "c.2992C>T",
"hgvs_p": "p.Leu998Phe",
"transcript": "XM_024452839.2",
"protein_id": "XP_024308607.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1711,
"cds_start": 2992,
"cds_end": null,
"cds_length": 5136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452839.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MROH2A",
"gene_hgnc_id": 27936,
"hgvs_c": "c.2953C>T",
"hgvs_p": "p.Leu985Phe",
"transcript": "XM_024452840.2",
"protein_id": "XP_024308608.1",
"transcript_support_level": null,
"aa_start": 985,
"aa_end": null,
"aa_length": 1708,
"cds_start": 2953,
"cds_end": null,
"cds_length": 5127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452840.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MROH2A",
"gene_hgnc_id": 27936,
"hgvs_c": "c.2947C>T",
"hgvs_p": "p.Leu983Phe",
"transcript": "XM_024452841.2",
"protein_id": "XP_024308609.1",
"transcript_support_level": null,
"aa_start": 983,
"aa_end": null,
"aa_length": 1706,
"cds_start": 2947,
"cds_end": null,
"cds_length": 5121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452841.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MROH2A",
"gene_hgnc_id": 27936,
"hgvs_c": "c.2902C>T",
"hgvs_p": "p.Leu968Phe",
"transcript": "XM_024452842.2",
"protein_id": "XP_024308610.1",
"transcript_support_level": null,
"aa_start": 968,
"aa_end": null,
"aa_length": 1691,
"cds_start": 2902,
"cds_end": null,
"cds_length": 5076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452842.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MROH2A",
"gene_hgnc_id": 27936,
"hgvs_c": "c.2992C>T",
"hgvs_p": "p.Leu998Phe",
"transcript": "XM_024452844.2",
"protein_id": "XP_024308612.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1675,
"cds_start": 2992,
"cds_end": null,
"cds_length": 5028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452844.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MROH2A",
"gene_hgnc_id": 27936,
"hgvs_c": "c.2992C>T",
"hgvs_p": "p.Leu998Phe",
"transcript": "XM_024452845.1",
"protein_id": "XP_024308613.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1674,
"cds_start": 2992,
"cds_end": null,
"cds_length": 5025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452845.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MROH2A",
"gene_hgnc_id": 27936,
"hgvs_c": "c.2794C>T",
"hgvs_p": "p.Leu932Phe",
"transcript": "XM_024452846.2",
"protein_id": "XP_024308614.1",
"transcript_support_level": null,
"aa_start": 932,
"aa_end": null,
"aa_length": 1655,
"cds_start": 2794,
"cds_end": null,
"cds_length": 4968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452846.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MROH2A",
"gene_hgnc_id": 27936,
"hgvs_c": "c.2158C>T",
"hgvs_p": "p.Leu720Phe",
"transcript": "XM_024452847.2",
"protein_id": "XP_024308615.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 1443,
"cds_start": 2158,
"cds_end": null,
"cds_length": 4332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452847.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MROH2A",
"gene_hgnc_id": 27936,
"hgvs_c": "c.2158C>T",
"hgvs_p": "p.Leu720Phe",
"transcript": "XM_024452848.2",
"protein_id": "XP_024308616.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 1443,
"cds_start": 2158,
"cds_end": null,
"cds_length": 4332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452848.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MROH2A",
"gene_hgnc_id": 27936,
"hgvs_c": "c.2014C>T",
"hgvs_p": "p.Leu672Phe",
"transcript": "XM_024452849.2",
"protein_id": "XP_024308617.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 1395,
"cds_start": 2014,
"cds_end": null,
"cds_length": 4188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452849.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "MROH2A",
"gene_hgnc_id": 27936,
"hgvs_c": "c.2992-1221C>T",
"hgvs_p": null,
"transcript": "XM_024452843.2",
"protein_id": "XP_024308611.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1686,
"cds_start": null,
"cds_end": null,
"cds_length": 5061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452843.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "MROH2A",
"gene_hgnc_id": 27936,
"hgvs_c": "c.2991+2104C>T",
"hgvs_p": null,
"transcript": "XM_011511086.3",
"protein_id": "XP_011509388.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1300,
"cds_start": null,
"cds_end": null,
"cds_length": 3903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511086.3"
}
],
"gene_symbol": "MROH2A",
"gene_hgnc_id": 27936,
"dbsnp": "rs115274498",
"frequency_reference_population": 0.005932339,
"hom_count_reference_population": 50,
"allele_count_reference_population": 9190,
"gnomad_exomes_af": 0.00610613,
"gnomad_genomes_af": 0.00433886,
"gnomad_exomes_ac": 8529,
"gnomad_genomes_ac": 661,
"gnomad_exomes_homalt": 47,
"gnomad_genomes_homalt": 3,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00545927882194519,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.16599999368190765,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.121,
"revel_prediction": "Benign",
"alphamissense_score": 0.1468,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.361,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.13,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0436364256395564,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001367507.1",
"gene_symbol": "MROH2A",
"hgnc_id": 27936,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2857C>T",
"hgvs_p": "p.Leu953Phe"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}