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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: 22-42627680-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=42627680&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 42627680,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001171660.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Ala158Thr",
"transcript": "NM_000398.7",
"protein_id": "NP_000389.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 301,
"cds_start": 472,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000352397.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000398.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Ala158Thr",
"transcript": "ENST00000352397.10",
"protein_id": "ENSP00000338461.6",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 301,
"cds_start": 472,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000398.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352397.10"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.490G>A",
"hgvs_p": "p.Ala164Thr",
"transcript": "ENST00000407332.6",
"protein_id": "ENSP00000384457.2",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 307,
"cds_start": 490,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407332.6"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "n.2606G>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000470741.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289517",
"gene_hgnc_id": null,
"hgvs_c": "n.7G>A",
"hgvs_p": null,
"transcript": "ENST00000617178.5",
"protein_id": "ENSP00000482500.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000617178.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Ala202Thr",
"transcript": "ENST00000361740.9",
"protein_id": "ENSP00000354468.5",
"transcript_support_level": 2,
"aa_start": 202,
"aa_end": null,
"aa_length": 345,
"cds_start": 604,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361740.9"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.571G>A",
"hgvs_p": "p.Ala191Thr",
"transcript": "NM_001171660.2",
"protein_id": "NP_001165131.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 334,
"cds_start": 571,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171660.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.571G>A",
"hgvs_p": "p.Ala191Thr",
"transcript": "ENST00000688117.1",
"protein_id": "ENSP00000509015.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 334,
"cds_start": 571,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688117.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Ala158Thr",
"transcript": "ENST00000693363.1",
"protein_id": "ENSP00000510411.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 315,
"cds_start": 472,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693363.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.493G>A",
"hgvs_p": "p.Ala165Thr",
"transcript": "ENST00000966833.1",
"protein_id": "ENSP00000636892.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 308,
"cds_start": 493,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966833.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Ala158Thr",
"transcript": "ENST00000693367.1",
"protein_id": "ENSP00000508815.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 298,
"cds_start": 472,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693367.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Ala154Thr",
"transcript": "ENST00000897015.1",
"protein_id": "ENSP00000567074.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 297,
"cds_start": 460,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897015.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Ala141Thr",
"transcript": "ENST00000897017.1",
"protein_id": "ENSP00000567076.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 284,
"cds_start": 421,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897017.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.403G>A",
"hgvs_p": "p.Ala135Thr",
"transcript": "NM_001129819.2",
"protein_id": "NP_001123291.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 278,
"cds_start": 403,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001129819.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.403G>A",
"hgvs_p": "p.Ala135Thr",
"transcript": "NM_001171661.1",
"protein_id": "NP_001165132.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 278,
"cds_start": 403,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171661.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.403G>A",
"hgvs_p": "p.Ala135Thr",
"transcript": "NM_007326.4",
"protein_id": "NP_015565.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 278,
"cds_start": 403,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007326.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.403G>A",
"hgvs_p": "p.Ala135Thr",
"transcript": "ENST00000402438.6",
"protein_id": "ENSP00000385679.1",
"transcript_support_level": 5,
"aa_start": 135,
"aa_end": null,
"aa_length": 278,
"cds_start": 403,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402438.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.403G>A",
"hgvs_p": "p.Ala135Thr",
"transcript": "ENST00000407623.8",
"protein_id": "ENSP00000384834.3",
"transcript_support_level": 3,
"aa_start": 135,
"aa_end": null,
"aa_length": 278,
"cds_start": 403,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407623.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.403G>A",
"hgvs_p": "p.Ala135Thr",
"transcript": "ENST00000687198.1",
"protein_id": "ENSP00000508492.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 278,
"cds_start": 403,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687198.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.403G>A",
"hgvs_p": "p.Ala135Thr",
"transcript": "ENST00000692152.1",
"protein_id": "ENSP00000509317.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 278,
"cds_start": 403,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692152.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Ala132Thr",
"transcript": "ENST00000897016.1",
"protein_id": "ENSP00000567075.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 275,
"cds_start": 394,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897016.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Ala114Thr",
"transcript": "ENST00000897018.1",
"protein_id": "ENSP00000567077.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 257,
"cds_start": 340,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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],
"clinvar_disease": "Deficiency of cytochrome-b5 reductase,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Deficiency of cytochrome-b5 reductase|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}