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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: 2-135636088-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=135636088&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 135636088,
"ref": "A",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000683871.1",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"hgvs_c": "c.808A>G",
"hgvs_p": "p.Met270Val",
"transcript": "NM_001378107.1",
"protein_id": "NP_001365036.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 1134,
"cds_start": 808,
"cds_end": null,
"cds_length": 3405,
"cdna_start": 1207,
"cdna_end": null,
"cdna_length": 4781,
"mane_select": "ENST00000683871.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"hgvs_c": "c.808A>G",
"hgvs_p": "p.Met270Val",
"transcript": "ENST00000683871.1",
"protein_id": "ENSP00000506980.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 1134,
"cds_start": 808,
"cds_end": null,
"cds_length": 3405,
"cdna_start": 1207,
"cdna_end": null,
"cdna_length": 4781,
"mane_select": "NM_001378107.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"hgvs_c": "c.808A>G",
"hgvs_p": "p.Met270Val",
"transcript": "ENST00000264160.8",
"protein_id": "ENSP00000264160.4",
"transcript_support_level": 1,
"aa_start": 270,
"aa_end": null,
"aa_length": 1099,
"cds_start": 808,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 4648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"hgvs_c": "c.676A>G",
"hgvs_p": "p.Met226Val",
"transcript": "ENST00000409478.5",
"protein_id": "ENSP00000386457.1",
"transcript_support_level": 1,
"aa_start": 226,
"aa_end": null,
"aa_length": 971,
"cds_start": 676,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 1058,
"cdna_end": null,
"cdna_length": 4272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"hgvs_c": "c.808A>G",
"hgvs_p": "p.Met270Val",
"transcript": "NM_001282798.2",
"protein_id": "NP_001269727.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 1100,
"cds_start": 808,
"cds_end": null,
"cds_length": 3303,
"cdna_start": 1212,
"cdna_end": null,
"cdna_length": 4684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"hgvs_c": "c.808A>G",
"hgvs_p": "p.Met270Val",
"transcript": "NM_001354200.2",
"protein_id": "NP_001341129.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 1100,
"cds_start": 808,
"cds_end": null,
"cds_length": 3303,
"cdna_start": 1207,
"cdna_end": null,
"cdna_length": 4679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"hgvs_c": "c.808A>G",
"hgvs_p": "p.Met270Val",
"transcript": "ENST00000409606.5",
"protein_id": "ENSP00000387010.1",
"transcript_support_level": 2,
"aa_start": 270,
"aa_end": null,
"aa_length": 1100,
"cds_start": 808,
"cds_end": null,
"cds_length": 3303,
"cdna_start": 1127,
"cdna_end": null,
"cdna_length": 3673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"hgvs_c": "c.808A>G",
"hgvs_p": "p.Met270Val",
"transcript": "NM_001354199.2",
"protein_id": "NP_001341128.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 1099,
"cds_start": 808,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 1212,
"cdna_end": null,
"cdna_length": 4681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"hgvs_c": "c.808A>G",
"hgvs_p": "p.Met270Val",
"transcript": "NM_015361.4",
"protein_id": "NP_056176.2",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 1099,
"cds_start": 808,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 1207,
"cdna_end": null,
"cdna_length": 4676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"hgvs_c": "c.640A>G",
"hgvs_p": "p.Met214Val",
"transcript": "NM_001282800.2",
"protein_id": "NP_001269729.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 1044,
"cds_start": 640,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 869,
"cdna_end": null,
"cdna_length": 4341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"hgvs_c": "c.640A>G",
"hgvs_p": "p.Met214Val",
"transcript": "ENST00000410054.5",
"protein_id": "ENSP00000386877.1",
"transcript_support_level": 2,
"aa_start": 214,
"aa_end": null,
"aa_length": 1044,
"cds_start": 640,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 971,
"cdna_end": null,
"cdna_length": 4442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"hgvs_c": "c.676A>G",
"hgvs_p": "p.Met226Val",
"transcript": "NM_001282799.2",
"protein_id": "NP_001269728.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 971,
"cds_start": 676,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 1075,
"cdna_end": null,
"cdna_length": 4292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"hgvs_c": "c.676A>G",
"hgvs_p": "p.Met226Val",
"transcript": "ENST00000628915.2",
"protein_id": "ENSP00000486837.1",
"transcript_support_level": 5,
"aa_start": 226,
"aa_end": null,
"aa_length": 971,
"cds_start": 676,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 4325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"hgvs_c": "c.754A>G",
"hgvs_p": "p.Met252Val",
"transcript": "ENST00000456040.1",
"protein_id": "ENSP00000405668.1",
"transcript_support_level": 5,
"aa_start": 252,
"aa_end": null,
"aa_length": 282,
"cds_start": 754,
"cds_end": null,
"cds_length": 849,
"cdna_start": 756,
"cdna_end": null,
"cdna_length": 851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"hgvs_c": "n.227A>G",
"hgvs_p": null,
"transcript": "ENST00000486532.5",
"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": 630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"dbsnp": "rs961360",
"frequency_reference_population": 0.17353599,
"hom_count_reference_population": 32766,
"allele_count_reference_population": 279807,
"gnomad_exomes_af": 0.169655,
"gnomad_genomes_af": 0.210779,
"gnomad_exomes_ac": 247737,
"gnomad_genomes_ac": 32070,
"gnomad_exomes_homalt": 28811,
"gnomad_genomes_homalt": 3955,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.002681940793991089,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.004000000189989805,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.111,
"revel_prediction": "Benign",
"alphamissense_score": 0.1117,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.969,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000933923644208054,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000683871.1",
"gene_symbol": "R3HDM1",
"hgnc_id": 9757,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.808A>G",
"hgvs_p": "p.Met270Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}