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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: 22-42619781-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=42619781&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CYB5R3",
"hgnc_id": 2873,
"hgvs_c": "c.997G>A",
"hgvs_p": "p.Val333Ile",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001171660.2",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000289517",
"hgnc_id": null,
"hgvs_c": "n.433G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -20,
"transcript": "ENST00000617178.5",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000270022",
"hgnc_id": null,
"hgvs_c": "n.212+4326C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -20,
"transcript": "ENST00000729791.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 2336,
"alphamissense_prediction": null,
"alphamissense_score": 0.1111,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"chr": "22",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.006158649921417236,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 301,
"aa_ref": "V",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2916,
"cdna_start": 975,
"cds_end": null,
"cds_length": 906,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_000398.7",
"gene_hgnc_id": 2873,
"gene_symbol": "CYB5R3",
"hgvs_c": "c.898G>A",
"hgvs_p": "p.Val300Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000352397.10",
"protein_coding": true,
"protein_id": "NP_000389.1",
"strand": false,
"transcript": "NM_000398.7",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 301,
"aa_ref": "V",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2916,
"cdna_start": 975,
"cds_end": null,
"cds_length": 906,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000352397.10",
"gene_hgnc_id": 2873,
"gene_symbol": "CYB5R3",
"hgvs_c": "c.898G>A",
"hgvs_p": "p.Val300Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000398.7",
"protein_coding": true,
"protein_id": "ENSP00000338461.6",
"strand": false,
"transcript": "ENST00000352397.10",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 307,
"aa_ref": "V",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1904,
"cdna_start": 936,
"cds_end": null,
"cds_length": 924,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000407332.6",
"gene_hgnc_id": 2873,
"gene_symbol": "CYB5R3",
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Val306Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384457.2",
"strand": false,
"transcript": "ENST00000407332.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3938,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000470741.1",
"gene_hgnc_id": 2873,
"gene_symbol": "CYB5R3",
"hgvs_c": "n.3032G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000470741.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 4525,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000617178.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000289517",
"hgvs_c": "n.433G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000482500.2",
"strand": false,
"transcript": "ENST00000617178.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 345,
"aa_ref": "V",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3048,
"cdna_start": 1107,
"cds_end": null,
"cds_length": 1038,
"cds_start": 1030,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000361740.9",
"gene_hgnc_id": 2873,
"gene_symbol": "CYB5R3",
"hgvs_c": "c.1030G>A",
"hgvs_p": "p.Val344Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354468.5",
"strand": false,
"transcript": "ENST00000361740.9",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 334,
"aa_ref": "V",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3055,
"cdna_start": 1114,
"cds_end": null,
"cds_length": 1005,
"cds_start": 997,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001171660.2",
"gene_hgnc_id": 2873,
"gene_symbol": "CYB5R3",
"hgvs_c": "c.997G>A",
"hgvs_p": "p.Val333Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001165131.1",
"strand": false,
"transcript": "NM_001171660.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 334,
"aa_ref": "V",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2094,
"cdna_start": 1122,
"cds_end": null,
"cds_length": 1005,
"cds_start": 997,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000688117.1",
"gene_hgnc_id": 2873,
"gene_symbol": "CYB5R3",
"hgvs_c": "c.997G>A",
"hgvs_p": "p.Val333Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509015.1",
"strand": false,
"transcript": "ENST00000688117.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 315,
"aa_ref": "V",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1955,
"cdna_start": 987,
"cds_end": null,
"cds_length": 948,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000693363.1",
"gene_hgnc_id": 2873,
"gene_symbol": "CYB5R3",
"hgvs_c": "c.940G>A",
"hgvs_p": "p.Val314Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510411.1",
"strand": false,
"transcript": "ENST00000693363.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 308,
"aa_ref": "V",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1900,
"cdna_start": 953,
"cds_end": null,
"cds_length": 927,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000966833.1",
"gene_hgnc_id": 2873,
"gene_symbol": "CYB5R3",
"hgvs_c": "c.919G>A",
"hgvs_p": "p.Val307Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636892.1",
"strand": false,
"transcript": "ENST00000966833.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 297,
"aa_ref": "V",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1921,
"cdna_start": 955,
"cds_end": null,
"cds_length": 894,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000897015.1",
"gene_hgnc_id": 2873,
"gene_symbol": "CYB5R3",
"hgvs_c": "c.886G>A",
"hgvs_p": "p.Val296Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567074.1",
"strand": false,
"transcript": "ENST00000897015.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 284,
"aa_ref": "V",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1876,
"cdna_start": 910,
"cds_end": null,
"cds_length": 855,
"cds_start": 847,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000897017.1",
"gene_hgnc_id": 2873,
"gene_symbol": "CYB5R3",
"hgvs_c": "c.847G>A",
"hgvs_p": "p.Val283Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567076.1",
"strand": false,
"transcript": "ENST00000897017.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 278,
"aa_ref": "V",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3167,
"cdna_start": 1226,
"cds_end": null,
"cds_length": 837,
"cds_start": 829,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001129819.2",
"gene_hgnc_id": 2873,
"gene_symbol": "CYB5R3",
"hgvs_c": "c.829G>A",
"hgvs_p": "p.Val277Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001123291.1",
"strand": false,
"transcript": "NM_001129819.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 278,
"aa_ref": "V",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2983,
"cdna_start": 1042,
"cds_end": null,
"cds_length": 837,
"cds_start": 829,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001171661.1",
"gene_hgnc_id": 2873,
"gene_symbol": "CYB5R3",
"hgvs_c": "c.829G>A",
"hgvs_p": "p.Val277Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001165132.1",
"strand": false,
"transcript": "NM_001171661.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 278,
"aa_ref": "V",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2922,
"cdna_start": 981,
"cds_end": null,
"cds_length": 837,
"cds_start": 829,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_007326.4",
"gene_hgnc_id": 2873,
"gene_symbol": "CYB5R3",
"hgvs_c": "c.829G>A",
"hgvs_p": "p.Val277Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_015565.1",
"strand": false,
"transcript": "NM_007326.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 278,
"aa_ref": "V",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1946,
"cdna_start": 1025,
"cds_end": null,
"cds_length": 837,
"cds_start": 829,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000402438.6",
"gene_hgnc_id": 2873,
"gene_symbol": "CYB5R3",
"hgvs_c": "c.829G>A",
"hgvs_p": "p.Val277Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385679.1",
"strand": false,
"transcript": "ENST00000402438.6",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 278,
"aa_ref": "V",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2149,
"cdna_start": 1214,
"cds_end": null,
"cds_length": 837,
"cds_start": 829,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000407623.8",
"gene_hgnc_id": 2873,
"gene_symbol": "CYB5R3",
"hgvs_c": "c.829G>A",
"hgvs_p": "p.Val277Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384834.3",
"strand": false,
"transcript": "ENST00000407623.8",
"transcript_support_level": 3
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 278,
"aa_ref": "V",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2030,
"cdna_start": 1062,
"cds_end": null,
"cds_length": 837,
"cds_start": 829,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000687198.1",
"gene_hgnc_id": 2873,
"gene_symbol": "CYB5R3",
"hgvs_c": "c.829G>A",
"hgvs_p": "p.Val277Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508492.1",
"strand": false,
"transcript": "ENST00000687198.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 278,
"aa_ref": "V",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2127,
"cdna_start": 1159,
"cds_end": null,
"cds_length": 837,
"cds_start": 829,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000692152.1",
"gene_hgnc_id": 2873,
"gene_symbol": "CYB5R3",
"hgvs_c": "c.829G>A",
"hgvs_p": "p.Val277Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509317.1",
"strand": false,
"transcript": "ENST00000692152.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 275,
"aa_ref": "V",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1849,
"cdna_start": 881,
"cds_end": null,
"cds_length": 828,
"cds_start": 820,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000897016.1",
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"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": -2.481,
"pos": 42619781,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.198,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001171660.2"
}
]
}