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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: 3-47501762-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=47501762&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 47501762,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001031703.3",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Tyr138Cys",
"transcript": "NM_001031703.3",
"protein_id": "NP_001026873.2",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 266,
"cds_start": 413,
"cds_end": null,
"cds_length": 801,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 1352,
"mane_select": "ENST00000296149.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Tyr138Cys",
"transcript": "ENST00000296149.9",
"protein_id": "ENSP00000296149.4",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 266,
"cds_start": 413,
"cds_end": null,
"cds_length": 801,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 1352,
"mane_select": "NM_001031703.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Tyr138Cys",
"transcript": "NM_001424210.1",
"protein_id": "NP_001411139.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 274,
"cds_start": 413,
"cds_end": null,
"cds_length": 825,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 1376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.404A>G",
"hgvs_p": "p.Tyr135Cys",
"transcript": "NM_001424211.1",
"protein_id": "NP_001411140.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 263,
"cds_start": 404,
"cds_end": null,
"cds_length": 792,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 1324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.404A>G",
"hgvs_p": "p.Tyr135Cys",
"transcript": "NM_001424212.1",
"protein_id": "NP_001411141.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 263,
"cds_start": 404,
"cds_end": null,
"cds_length": 792,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 1586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.404A>G",
"hgvs_p": "p.Tyr135Cys",
"transcript": "NM_001424213.1",
"protein_id": "NP_001411142.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 263,
"cds_start": 404,
"cds_end": null,
"cds_length": 792,
"cdna_start": 538,
"cdna_end": null,
"cdna_length": 1355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Tyr121Cys",
"transcript": "NM_001424214.1",
"protein_id": "NP_001411143.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 249,
"cds_start": 362,
"cds_end": null,
"cds_length": 750,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 1331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Tyr138Cys",
"transcript": "NM_001424215.1",
"protein_id": "NP_001411144.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 217,
"cds_start": 413,
"cds_end": null,
"cds_length": 654,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 1205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.Tyr89Cys",
"transcript": "NM_001424216.1",
"protein_id": "NP_001411145.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 217,
"cds_start": 266,
"cds_end": null,
"cds_length": 654,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 1281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.Tyr89Cys",
"transcript": "NM_001424217.1",
"protein_id": "NP_001411146.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 217,
"cds_start": 266,
"cds_end": null,
"cds_length": 654,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 1459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.Tyr89Cys",
"transcript": "NM_001424218.1",
"protein_id": "NP_001411147.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 217,
"cds_start": 266,
"cds_end": null,
"cds_length": 654,
"cdna_start": 380,
"cdna_end": null,
"cdna_length": 1197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.263A>G",
"hgvs_p": "p.Tyr88Cys",
"transcript": "NM_001424219.1",
"protein_id": "NP_001411148.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 216,
"cds_start": 263,
"cds_end": null,
"cds_length": 651,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 1202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.194A>G",
"hgvs_p": "p.Tyr65Cys",
"transcript": "NM_001363957.1",
"protein_id": "NP_001350886.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 193,
"cds_start": 194,
"cds_end": null,
"cds_length": 582,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 1530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.194A>G",
"hgvs_p": "p.Tyr65Cys",
"transcript": "NM_001424220.1",
"protein_id": "NP_001411149.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 193,
"cds_start": 194,
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"cds_length": 582,
"cdna_start": 451,
"cdna_end": null,
"cdna_length": 1268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.194A>G",
"hgvs_p": "p.Tyr65Cys",
"transcript": "NM_001424222.1",
"protein_id": "NP_001411151.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 193,
"cds_start": 194,
"cds_end": null,
"cds_length": 582,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 1459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.194A>G",
"hgvs_p": "p.Tyr65Cys",
"transcript": "NM_001424223.1",
"protein_id": "NP_001411152.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 193,
"cds_start": 194,
"cds_end": null,
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"cdna_start": 921,
"cdna_end": null,
"cdna_length": 1738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.194A>G",
"hgvs_p": "p.Tyr65Cys",
"transcript": "NM_001424224.1",
"protein_id": "NP_001411153.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 193,
"cds_start": 194,
"cds_end": null,
"cds_length": 582,
"cdna_start": 482,
"cdna_end": null,
"cdna_length": 1299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.194A>G",
"hgvs_p": "p.Tyr65Cys",
"transcript": "NM_001424225.1",
"protein_id": "NP_001411154.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 193,
"cds_start": 194,
"cds_end": null,
"cds_length": 582,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 1387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.194A>G",
"hgvs_p": "p.Tyr65Cys",
"transcript": "NM_001424226.1",
"protein_id": "NP_001411155.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 193,
"cds_start": 194,
"cds_end": null,
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"cdna_start": 558,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.194A>G",
"hgvs_p": "p.Tyr65Cys",
"transcript": "NM_001424227.1",
"protein_id": "NP_001411156.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 193,
"cds_start": 194,
"cds_end": null,
"cds_length": 582,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 1886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.194A>G",
"hgvs_p": "p.Tyr65Cys",
"transcript": "ENST00000439305.5",
"protein_id": "ENSP00000402399.1",
"transcript_support_level": 2,
"aa_start": 65,
"aa_end": null,
"aa_length": 193,
"cds_start": 194,
"cds_end": null,
"cds_length": 582,
"cdna_start": 452,
"cdna_end": null,
"cdna_length": 880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.194A>G",
"hgvs_p": "p.Tyr65Cys",
"transcript": "ENST00000446787.5",
"protein_id": "ENSP00000412593.1",
"transcript_support_level": 3,
"aa_start": 65,
"aa_end": null,
"aa_length": 193,
"cds_start": 194,
"cds_end": null,
"cds_length": 582,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.Tyr89Cys",
"transcript": "NM_001424228.1",
"protein_id": "NP_001411157.1",
"transcript_support_level": null,
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"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001031703.3",
"gene_symbol": "ELP6",
"hgnc_id": 25976,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Tyr138Cys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}