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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: 8-80053316-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=80053316&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 80053316,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001387778.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"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": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.250G>A",
"hgvs_p": "p.Ala84Thr",
"transcript": "NM_001025253.3",
"protein_id": "NP_001020424.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 207,
"cds_start": 250,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000518937.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001025253.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"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": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.250G>A",
"hgvs_p": "p.Ala84Thr",
"transcript": "ENST00000518937.6",
"protein_id": "ENSP00000429915.1",
"transcript_support_level": 2,
"aa_start": 84,
"aa_end": null,
"aa_length": 207,
"cds_start": 250,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001025253.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518937.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Ala124Thr",
"transcript": "ENST00000520527.5",
"protein_id": "ENSP00000429309.1",
"transcript_support_level": 1,
"aa_start": 124,
"aa_end": null,
"aa_length": 247,
"cds_start": 370,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520527.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Ala124Thr",
"transcript": "ENST00000448733.3",
"protein_id": "ENSP00000410222.2",
"transcript_support_level": 1,
"aa_start": 124,
"aa_end": null,
"aa_length": 238,
"cds_start": 370,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448733.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Ala124Thr",
"transcript": "ENST00000517427.5",
"protein_id": "ENSP00000429351.1",
"transcript_support_level": 1,
"aa_start": 124,
"aa_end": null,
"aa_length": 233,
"cds_start": 370,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517427.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Ala124Thr",
"transcript": "ENST00000379097.7",
"protein_id": "ENSP00000368391.3",
"transcript_support_level": 1,
"aa_start": 124,
"aa_end": null,
"aa_length": 224,
"cds_start": 370,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379097.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.250G>A",
"hgvs_p": "p.Ala84Thr",
"transcript": "ENST00000379096.9",
"protein_id": "ENSP00000368390.4",
"transcript_support_level": 1,
"aa_start": 84,
"aa_end": null,
"aa_length": 184,
"cds_start": 250,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379096.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.-192G>A",
"hgvs_p": null,
"transcript": "ENST00000519303.6",
"protein_id": "ENSP00000428951.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 60,
"cds_start": null,
"cds_end": null,
"cds_length": 183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519303.6"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "n.370G>A",
"hgvs_p": null,
"transcript": "ENST00000517462.6",
"protein_id": "ENSP00000429708.1",
"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": "ENST00000517462.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000276418",
"gene_hgnc_id": null,
"hgvs_c": "n.370G>A",
"hgvs_p": null,
"transcript": "ENST00000522938.5",
"protein_id": "ENSP00000430858.2",
"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": "ENST00000522938.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52-MRPS28",
"gene_hgnc_id": null,
"hgvs_c": "c.250G>A",
"hgvs_p": "p.Ala84Thr",
"transcript": "NM_001387778.1",
"protein_id": "NP_001374707.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 261,
"cds_start": 250,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387778.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Ala124Thr",
"transcript": "NM_001287140.2",
"protein_id": "NP_001274069.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 247,
"cds_start": 370,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287140.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Ala124Thr",
"transcript": "NM_001287142.2",
"protein_id": "NP_001274071.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 238,
"cds_start": 370,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287142.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Ala124Thr",
"transcript": "NM_001287143.2",
"protein_id": "NP_001274072.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 233,
"cds_start": 370,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287143.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Ala124Thr",
"transcript": "NM_001025252.3",
"protein_id": "NP_001020423.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 224,
"cds_start": 370,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001025252.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.250G>A",
"hgvs_p": "p.Ala84Thr",
"transcript": "ENST00000861105.1",
"protein_id": "ENSP00000531164.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 193,
"cds_start": 250,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861105.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.250G>A",
"hgvs_p": "p.Ala84Thr",
"transcript": "NM_005079.4",
"protein_id": "NP_005070.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 184,
"cds_start": 250,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005079.4"
},
{
"aa_ref": "A",
"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": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.274G>A",
"hgvs_p": "p.Ala92Thr",
"transcript": "NM_001387780.1",
"protein_id": "NP_001374709.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 162,
"cds_start": 274,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387780.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.250G>A",
"hgvs_p": "p.Ala84Thr",
"transcript": "NM_001387779.1",
"protein_id": "NP_001374708.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 154,
"cds_start": 250,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387779.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.250G>A",
"hgvs_p": "p.Ala84Thr",
"transcript": "ENST00000861106.1",
"protein_id": "ENSP00000531165.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 150,
"cds_start": 250,
"cds_end": null,
"cds_length": 453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861106.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Ala136Thr",
"transcript": "ENST00000520795.5",
"protein_id": "ENSP00000430865.1",
"transcript_support_level": 2,
"aa_start": 136,
"aa_end": null,
"aa_length": 146,
"cds_start": 406,
"cds_end": null,
"cds_length": 443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520795.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.250G>A",
"hgvs_p": "p.Ala84Thr",
"transcript": "NM_001287144.2",
"protein_id": "NP_001274073.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 145,
"cds_start": 250,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287144.2"
},
{
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"missense_variant"
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"inheritance_mode": "AR",
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Ala124Thr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000522938.5",
"gene_symbol": "ENSG00000276418",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.370G>A",
"hgvs_p": null
}
],
"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
}