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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: 22-42631431-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=42631431&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 42631431,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000352397.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58Gln",
"transcript": "NM_000398.7",
"protein_id": "NP_000389.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 301,
"cds_start": 173,
"cds_end": null,
"cds_length": 906,
"cdna_start": 250,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": "ENST00000352397.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58Gln",
"transcript": "ENST00000352397.10",
"protein_id": "ENSP00000338461.6",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 301,
"cds_start": 173,
"cds_end": null,
"cds_length": 906,
"cdna_start": 250,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": "NM_000398.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.191G>A",
"hgvs_p": "p.Arg64Gln",
"transcript": "ENST00000407332.6",
"protein_id": "ENSP00000384457.2",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 307,
"cds_start": 191,
"cds_end": null,
"cds_length": 924,
"cdna_start": 211,
"cdna_end": null,
"cdna_length": 1904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "n.1918G>A",
"hgvs_p": null,
"transcript": "ENST00000470741.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 3938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58Gln",
"transcript": "ENST00000361740.9",
"protein_id": "ENSP00000354468.5",
"transcript_support_level": 2,
"aa_start": 58,
"aa_end": null,
"aa_length": 345,
"cds_start": 173,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 250,
"cdna_end": null,
"cdna_length": 3048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.272G>A",
"hgvs_p": "p.Arg91Gln",
"transcript": "NM_001171660.2",
"protein_id": "NP_001165131.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 334,
"cds_start": 272,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 3055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.272G>A",
"hgvs_p": "p.Arg91Gln",
"transcript": "ENST00000688117.1",
"protein_id": "ENSP00000509015.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 334,
"cds_start": 272,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 397,
"cdna_end": null,
"cdna_length": 2094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58Gln",
"transcript": "ENST00000693363.1",
"protein_id": "ENSP00000510411.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 315,
"cds_start": 173,
"cds_end": null,
"cds_length": 948,
"cdna_start": 220,
"cdna_end": null,
"cdna_length": 1955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58Gln",
"transcript": "ENST00000693367.1",
"protein_id": "ENSP00000508815.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 298,
"cds_start": 173,
"cds_end": null,
"cds_length": 897,
"cdna_start": 180,
"cdna_end": null,
"cdna_length": 1238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.104G>A",
"hgvs_p": "p.Arg35Gln",
"transcript": "NM_001129819.2",
"protein_id": "NP_001123291.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 278,
"cds_start": 104,
"cds_end": null,
"cds_length": 837,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 3167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.104G>A",
"hgvs_p": "p.Arg35Gln",
"transcript": "NM_001171661.1",
"protein_id": "NP_001165132.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 278,
"cds_start": 104,
"cds_end": null,
"cds_length": 837,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 2983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.104G>A",
"hgvs_p": "p.Arg35Gln",
"transcript": "NM_007326.4",
"protein_id": "NP_015565.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 278,
"cds_start": 104,
"cds_end": null,
"cds_length": 837,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 2922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.104G>A",
"hgvs_p": "p.Arg35Gln",
"transcript": "ENST00000402438.6",
"protein_id": "ENSP00000385679.1",
"transcript_support_level": 5,
"aa_start": 35,
"aa_end": null,
"aa_length": 278,
"cds_start": 104,
"cds_end": null,
"cds_length": 837,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 1946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.104G>A",
"hgvs_p": "p.Arg35Gln",
"transcript": "ENST00000407623.8",
"protein_id": "ENSP00000384834.3",
"transcript_support_level": 3,
"aa_start": 35,
"aa_end": null,
"aa_length": 278,
"cds_start": 104,
"cds_end": null,
"cds_length": 837,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 2149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.104G>A",
"hgvs_p": "p.Arg35Gln",
"transcript": "ENST00000687198.1",
"protein_id": "ENSP00000508492.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 278,
"cds_start": 104,
"cds_end": null,
"cds_length": 837,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 2030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.104G>A",
"hgvs_p": "p.Arg35Gln",
"transcript": "ENST00000692152.1",
"protein_id": "ENSP00000509317.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 278,
"cds_start": 104,
"cds_end": null,
"cds_length": 837,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 2127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58Gln",
"transcript": "ENST00000689195.1",
"protein_id": "ENSP00000509895.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 273,
"cds_start": 173,
"cds_end": null,
"cds_length": 822,
"cdna_start": 220,
"cdna_end": null,
"cdna_length": 1654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58Gln",
"transcript": "ENST00000688244.1",
"protein_id": "ENSP00000510355.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 201,
"cds_start": 173,
"cds_end": null,
"cds_length": 606,
"cdna_start": 242,
"cdna_end": null,
"cdna_length": 999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.104G>A",
"hgvs_p": "p.Arg35Gln",
"transcript": "ENST00000438270.2",
"protein_id": "ENSP00000403439.2",
"transcript_support_level": 3,
"aa_start": 35,
"aa_end": null,
"aa_length": 158,
"cds_start": 104,
"cds_end": null,
"cds_length": 478,
"cdna_start": 207,
"cdna_end": null,
"cdna_length": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.104G>A",
"hgvs_p": "p.Arg35Gln",
"transcript": "ENST00000686129.1",
"protein_id": "ENSP00000508623.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 130,
"cds_start": 104,
"cds_end": null,
"cds_length": 394,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Arg48Gln",
"transcript": "XM_047441183.1",
"protein_id": "XP_047297139.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 291,
"cds_start": 143,
"cds_end": null,
"cds_length": 876,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 2988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "n.240G>A",
"hgvs_p": null,
"transcript": "ENST00000466276.2",
"protein_id": null,
"transcript_support_level": 4,
"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": 671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "n.*122G>A",
"hgvs_p": null,
"transcript": "ENST00000686523.1",
"protein_id": "ENSP00000508940.1",
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"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Uncertain_significance",
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"clinvar_disease": " TYPE I,CYB5R3-related disorder,METHEMOGLOBINEMIA,not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:2",
"phenotype_combined": "METHEMOGLOBINEMIA, TYPE I|not provided|CYB5R3-related disorder",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}