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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: 11-83273845-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=83273845&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 83273845,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_021825.5",
"consequences": [
{
"aa_ref": "R",
"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": "CCDC90B",
"gene_hgnc_id": 28108,
"hgvs_c": "c.488G>C",
"hgvs_p": "p.Arg163Thr",
"transcript": "NM_021825.5",
"protein_id": "NP_068597.2",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 254,
"cds_start": 488,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000529689.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021825.5"
},
{
"aa_ref": "R",
"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": "CCDC90B",
"gene_hgnc_id": 28108,
"hgvs_c": "c.488G>C",
"hgvs_p": "p.Arg163Thr",
"transcript": "ENST00000529689.6",
"protein_id": "ENSP00000434724.1",
"transcript_support_level": 1,
"aa_start": 163,
"aa_end": null,
"aa_length": 254,
"cds_start": 488,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021825.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529689.6"
},
{
"aa_ref": "R",
"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": "CCDC90B",
"gene_hgnc_id": 28108,
"hgvs_c": "c.185G>C",
"hgvs_p": "p.Arg62Thr",
"transcript": "ENST00000455220.6",
"protein_id": "ENSP00000390990.3",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 153,
"cds_start": 185,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455220.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC90B",
"gene_hgnc_id": 28108,
"hgvs_c": "n.*676G>C",
"hgvs_p": null,
"transcript": "ENST00000525503.5",
"protein_id": "ENSP00000431424.2",
"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": "ENST00000525503.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC90B",
"gene_hgnc_id": 28108,
"hgvs_c": "n.*676G>C",
"hgvs_p": null,
"transcript": "ENST00000525503.5",
"protein_id": "ENSP00000431424.2",
"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": "ENST00000525503.5"
},
{
"aa_ref": "R",
"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": "CCDC90B",
"gene_hgnc_id": 28108,
"hgvs_c": "c.488G>C",
"hgvs_p": "p.Arg163Thr",
"transcript": "ENST00000874525.1",
"protein_id": "ENSP00000544584.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 302,
"cds_start": 488,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874525.1"
},
{
"aa_ref": "R",
"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": "CCDC90B",
"gene_hgnc_id": 28108,
"hgvs_c": "c.446G>C",
"hgvs_p": "p.Arg149Thr",
"transcript": "ENST00000874527.1",
"protein_id": "ENSP00000544586.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 240,
"cds_start": 446,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874527.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC90B",
"gene_hgnc_id": 28108,
"hgvs_c": "c.488G>C",
"hgvs_p": "p.Arg163Thr",
"transcript": "ENST00000874528.1",
"protein_id": "ENSP00000544587.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 236,
"cds_start": 488,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874528.1"
},
{
"aa_ref": "R",
"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": "CCDC90B",
"gene_hgnc_id": 28108,
"hgvs_c": "c.386G>C",
"hgvs_p": "p.Arg129Thr",
"transcript": "ENST00000874526.1",
"protein_id": "ENSP00000544585.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 220,
"cds_start": 386,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874526.1"
},
{
"aa_ref": "R",
"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": "CCDC90B",
"gene_hgnc_id": 28108,
"hgvs_c": "c.374G>C",
"hgvs_p": "p.Arg125Thr",
"transcript": "ENST00000915431.1",
"protein_id": "ENSP00000585490.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 216,
"cds_start": 374,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915431.1"
},
{
"aa_ref": "R",
"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": "CCDC90B",
"gene_hgnc_id": 28108,
"hgvs_c": "c.194G>C",
"hgvs_p": "p.Arg65Thr",
"transcript": "NM_001286118.3",
"protein_id": "NP_001273047.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 156,
"cds_start": 194,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286118.3"
},
{
"aa_ref": "R",
"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": "CCDC90B",
"gene_hgnc_id": 28108,
"hgvs_c": "c.194G>C",
"hgvs_p": "p.Arg65Thr",
"transcript": "NM_001286119.3",
"protein_id": "NP_001273048.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 156,
"cds_start": 194,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286119.3"
},
{
"aa_ref": "R",
"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": "CCDC90B",
"gene_hgnc_id": 28108,
"hgvs_c": "c.185G>C",
"hgvs_p": "p.Arg62Thr",
"transcript": "NM_001286116.2",
"protein_id": "NP_001273045.2",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 153,
"cds_start": 185,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286116.2"
},
{
"aa_ref": "R",
"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": "CCDC90B",
"gene_hgnc_id": 28108,
"hgvs_c": "c.185G>C",
"hgvs_p": "p.Arg62Thr",
"transcript": "NM_001286117.3",
"protein_id": "NP_001273046.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 153,
"cds_start": 185,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286117.3"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC90B",
"gene_hgnc_id": 28108,
"hgvs_c": "c.143G>C",
"hgvs_p": "p.Arg48Thr",
"transcript": "NM_001286120.3",
"protein_id": "NP_001273049.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 139,
"cds_start": 143,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286120.3"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC90B",
"gene_hgnc_id": 28108,
"hgvs_c": "c.269G>C",
"hgvs_p": "p.Arg90Thr",
"transcript": "ENST00000527495.5",
"protein_id": "ENSP00000436974.1",
"transcript_support_level": 5,
"aa_start": 90,
"aa_end": null,
"aa_length": 133,
"cds_start": 269,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527495.5"
},
{
"aa_ref": "R",
"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": "CCDC90B",
"gene_hgnc_id": 28108,
"hgvs_c": "c.194G>C",
"hgvs_p": "p.Arg65Thr",
"transcript": "XM_005274156.4",
"protein_id": "XP_005274213.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 156,
"cds_start": 194,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005274156.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CCDC90B",
"gene_hgnc_id": 28108,
"hgvs_c": "c.427-145G>C",
"hgvs_p": null,
"transcript": "ENST00000915430.1",
"protein_id": "ENSP00000585489.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 216,
"cds_start": null,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915430.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CCDC90B",
"gene_hgnc_id": 28108,
"hgvs_c": "c.468+106G>C",
"hgvs_p": null,
"transcript": "ENST00000529073.5",
"protein_id": "ENSP00000431523.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 208,
"cds_start": null,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529073.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC90B",
"gene_hgnc_id": 28108,
"hgvs_c": "n.*85G>C",
"hgvs_p": null,
"transcript": "ENST00000260054.8",
"protein_id": "ENSP00000260054.4",
"transcript_support_level": 2,
"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": "ENST00000260054.8"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC90B",
"gene_hgnc_id": 28108,
"hgvs_c": "n.580G>C",
"hgvs_p": null,
"transcript": "ENST00000525916.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000525916.1"
},
{
"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": "CCDC90B",
"gene_hgnc_id": 28108,
"hgvs_c": "n.*736G>C",
"hgvs_p": null,
"transcript": "ENST00000526265.5",
"protein_id": "ENSP00000432999.1",
"transcript_support_level": 2,
"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": "ENST00000526265.5"
},
{
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{
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"verdict": "Uncertain_significance",
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],
"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
}