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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: 18-22992773-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=22992773&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 22992773,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000327155.10",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.946C>T",
"hgvs_p": "p.Pro316Ser",
"transcript": "NM_002894.3",
"protein_id": "NP_002885.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 897,
"cds_start": 946,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 1281,
"cdna_end": null,
"cdna_length": 3275,
"mane_select": "ENST00000327155.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.946C>T",
"hgvs_p": "p.Pro316Ser",
"transcript": "ENST00000327155.10",
"protein_id": "ENSP00000323050.5",
"transcript_support_level": 1,
"aa_start": 316,
"aa_end": null,
"aa_length": 897,
"cds_start": 946,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 1281,
"cdna_end": null,
"cdna_length": 3275,
"mane_select": "NM_002894.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.946C>T",
"hgvs_p": "p.Pro316Ser",
"transcript": "ENST00000360790.9",
"protein_id": "ENSP00000354024.5",
"transcript_support_level": 1,
"aa_start": 316,
"aa_end": null,
"aa_length": 902,
"cds_start": 946,
"cds_end": null,
"cds_length": 2709,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 2962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.946C>T",
"hgvs_p": "p.Pro316Ser",
"transcript": "ENST00000399722.6",
"protein_id": "ENSP00000382628.2",
"transcript_support_level": 1,
"aa_start": 316,
"aa_end": null,
"aa_length": 897,
"cds_start": 946,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 1297,
"cdna_end": null,
"cdna_length": 3293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.946C>T",
"hgvs_p": "p.Pro316Ser",
"transcript": "ENST00000399725.6",
"protein_id": "ENSP00000382630.2",
"transcript_support_level": 1,
"aa_start": 316,
"aa_end": null,
"aa_length": 867,
"cds_start": 946,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 1363,
"cdna_end": null,
"cdna_length": 3260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.946C>T",
"hgvs_p": "p.Pro316Ser",
"transcript": "ENST00000399721.6",
"protein_id": "ENSP00000382627.2",
"transcript_support_level": 1,
"aa_start": 316,
"aa_end": null,
"aa_length": 579,
"cds_start": 946,
"cds_end": null,
"cds_length": 1742,
"cdna_start": 1433,
"cdna_end": null,
"cdna_length": 2229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.946C>T",
"hgvs_p": "p.Pro316Ser",
"transcript": "NM_203291.2",
"protein_id": "NP_976036.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 897,
"cds_start": 946,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 1256,
"cdna_end": null,
"cdna_length": 3250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.946C>T",
"hgvs_p": "p.Pro316Ser",
"transcript": "NM_203292.2",
"protein_id": "NP_976037.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 867,
"cds_start": 946,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 1337,
"cdna_end": null,
"cdna_length": 3234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.946C>T",
"hgvs_p": "p.Pro316Ser",
"transcript": "XM_006722519.3",
"protein_id": "XP_006722582.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 897,
"cds_start": 946,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 1333,
"cdna_end": null,
"cdna_length": 3327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.946C>T",
"hgvs_p": "p.Pro316Ser",
"transcript": "XM_006722520.3",
"protein_id": "XP_006722583.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 897,
"cds_start": 946,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 3261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.946C>T",
"hgvs_p": "p.Pro316Ser",
"transcript": "XM_006722521.3",
"protein_id": "XP_006722584.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 897,
"cds_start": 946,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 1876,
"cdna_end": null,
"cdna_length": 3870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.946C>T",
"hgvs_p": "p.Pro316Ser",
"transcript": "XM_011526132.3",
"protein_id": "XP_011524434.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 897,
"cds_start": 946,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 1278,
"cdna_end": null,
"cdna_length": 3272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.946C>T",
"hgvs_p": "p.Pro316Ser",
"transcript": "XM_047437727.1",
"protein_id": "XP_047293683.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 897,
"cds_start": 946,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 1442,
"cdna_end": null,
"cdna_length": 3436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.946C>T",
"hgvs_p": "p.Pro316Ser",
"transcript": "XM_047437728.1",
"protein_id": "XP_047293684.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 897,
"cds_start": 946,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 1438,
"cdna_end": null,
"cdna_length": 3432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.946C>T",
"hgvs_p": "p.Pro316Ser",
"transcript": "XM_005258325.4",
"protein_id": "XP_005258382.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 876,
"cds_start": 946,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 1281,
"cdna_end": null,
"cdna_length": 3205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.946C>T",
"hgvs_p": "p.Pro316Ser",
"transcript": "XM_047437729.1",
"protein_id": "XP_047293685.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 876,
"cds_start": 946,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 1876,
"cdna_end": null,
"cdna_length": 3800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.946C>T",
"hgvs_p": "p.Pro316Ser",
"transcript": "XM_047437730.1",
"protein_id": "XP_047293686.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 876,
"cds_start": 946,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 1256,
"cdna_end": null,
"cdna_length": 3180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.946C>T",
"hgvs_p": "p.Pro316Ser",
"transcript": "XM_047437731.1",
"protein_id": "XP_047293687.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 876,
"cds_start": 946,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 1442,
"cdna_end": null,
"cdna_length": 3366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.652C>T",
"hgvs_p": "p.Pro218Ser",
"transcript": "XM_047437732.1",
"protein_id": "XP_047293688.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 799,
"cds_start": 652,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 852,
"cdna_end": null,
"cdna_length": 2846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"dbsnp": "rs150369515",
"frequency_reference_population": 0.000007524851,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000207956,
"gnomad_genomes_af": 0.0000591693,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10226595401763916,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.024,
"revel_prediction": "Benign",
"alphamissense_score": 0.0714,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.737,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000327155.10",
"gene_symbol": "RBBP8",
"hgnc_id": 9891,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.946C>T",
"hgvs_p": "p.Pro316Ser"
}
],
"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
}