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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: 6-80167690-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=80167690&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 80167690,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_183050.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCKDHB",
"gene_hgnc_id": 987,
"hgvs_c": "c.356T>G",
"hgvs_p": "p.Val119Gly",
"transcript": "NM_183050.4",
"protein_id": "NP_898871.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 392,
"cds_start": 356,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 3668,
"mane_select": "ENST00000320393.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCKDHB",
"gene_hgnc_id": 987,
"hgvs_c": "c.356T>G",
"hgvs_p": "p.Val119Gly",
"transcript": "ENST00000320393.9",
"protein_id": "ENSP00000318351.5",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 392,
"cds_start": 356,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 3668,
"mane_select": "NM_183050.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCKDHB",
"gene_hgnc_id": 987,
"hgvs_c": "c.356T>G",
"hgvs_p": "p.Val119Gly",
"transcript": "ENST00000356489.9",
"protein_id": "ENSP00000348880.5",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 392,
"cds_start": 356,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 1514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCKDHB",
"gene_hgnc_id": 987,
"hgvs_c": "c.356T>G",
"hgvs_p": "p.Val119Gly",
"transcript": "NM_001424035.1",
"protein_id": "NP_001410964.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 411,
"cds_start": 356,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 3668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCKDHB",
"gene_hgnc_id": 987,
"hgvs_c": "c.356T>G",
"hgvs_p": "p.Val119Gly",
"transcript": "NM_000056.5",
"protein_id": "NP_000047.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 392,
"cds_start": 356,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 1506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCKDHB",
"gene_hgnc_id": 987,
"hgvs_c": "c.356T>G",
"hgvs_p": "p.Val119Gly",
"transcript": "NM_001424036.1",
"protein_id": "NP_001410965.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 392,
"cds_start": 356,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 3817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCKDHB",
"gene_hgnc_id": 987,
"hgvs_c": "c.356T>G",
"hgvs_p": "p.Val119Gly",
"transcript": "NM_001424037.1",
"protein_id": "NP_001410966.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 375,
"cds_start": 356,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 1413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCKDHB",
"gene_hgnc_id": 987,
"hgvs_c": "c.356T>G",
"hgvs_p": "p.Val119Gly",
"transcript": "NM_001424038.1",
"protein_id": "NP_001410967.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 359,
"cds_start": 356,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 2361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCKDHB",
"gene_hgnc_id": 987,
"hgvs_c": "c.356T>G",
"hgvs_p": "p.Val119Gly",
"transcript": "NM_001424039.1",
"protein_id": "NP_001410968.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 353,
"cds_start": 356,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 3736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCKDHB",
"gene_hgnc_id": 987,
"hgvs_c": "c.356T>G",
"hgvs_p": "p.Val119Gly",
"transcript": "NM_001424040.1",
"protein_id": "NP_001410969.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 350,
"cds_start": 356,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 1380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCKDHB",
"gene_hgnc_id": 987,
"hgvs_c": "c.356T>G",
"hgvs_p": "p.Val119Gly",
"transcript": "NM_001424041.1",
"protein_id": "NP_001410970.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 348,
"cds_start": 356,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 4343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCKDHB",
"gene_hgnc_id": 987,
"hgvs_c": "c.356T>G",
"hgvs_p": "p.Val119Gly",
"transcript": "NM_001424042.1",
"protein_id": "NP_001410971.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 324,
"cds_start": 356,
"cds_end": null,
"cds_length": 975,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 1709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCKDHB",
"gene_hgnc_id": 987,
"hgvs_c": "c.146T>G",
"hgvs_p": "p.Val49Gly",
"transcript": "NM_001318975.1",
"protein_id": "NP_001305904.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 322,
"cds_start": 146,
"cds_end": null,
"cds_length": 969,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 3523,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "BCKDHB",
"gene_hgnc_id": 987,
"hgvs_c": "c.146T>G",
"hgvs_p": "p.Val49Gly",
"transcript": "NM_001424043.1",
"protein_id": "NP_001410972.1",
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"biotype": null,
"feature": null
},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "BCKDHB",
"gene_hgnc_id": 987,
"hgvs_c": "c.356T>G",
"hgvs_p": "p.Val119Gly",
"transcript": "NM_001424044.1",
"protein_id": "NP_001410973.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 318,
"cds_start": 356,
"cds_end": null,
"cds_length": 957,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 3232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCKDHB",
"gene_hgnc_id": 987,
"hgvs_c": "c.356T>G",
"hgvs_p": "p.Val119Gly",
"transcript": "NM_001424045.1",
"protein_id": "NP_001410974.1",
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"aa_start": 119,
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"cds_start": 356,
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"cdna_start": 379,
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 4,
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"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCKDHB",
"gene_hgnc_id": 987,
"hgvs_c": "c.356T>G",
"hgvs_p": "p.Val119Gly",
"transcript": "ENST00000369760.8",
"protein_id": "ENSP00000358775.4",
"transcript_support_level": 3,
"aa_start": 119,
"aa_end": null,
"aa_length": 218,
"cds_start": 356,
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"cds_length": 657,
"cdna_start": 403,
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"cdna_length": 743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCKDHB",
"gene_hgnc_id": 987,
"hgvs_c": "c.356T>G",
"hgvs_p": "p.Val119Gly",
"transcript": "XM_047419207.1",
"protein_id": "XP_047275163.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 392,
"cds_start": 356,
"cds_end": null,
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"cdna_start": 379,
"cdna_end": null,
"cdna_length": 4506,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "BCKDHB",
"gene_hgnc_id": 987,
"hgvs_c": "c.356T>G",
"hgvs_p": "p.Val119Gly",
"transcript": "XM_005248756.6",
"protein_id": "XP_005248813.1",
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},
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"consequences": [
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],
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "BCKDHB",
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"hgvs_c": "c.356T>G",
"hgvs_p": "p.Val119Gly",
"transcript": "XM_047419210.1",
"protein_id": "XP_047275166.1",
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"aa_start": 119,
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"cdna_start": 379,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 4,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCKDHB",
"gene_hgnc_id": 987,
"hgvs_c": "c.356T>G",
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"transcript": "XM_047419211.1",
"protein_id": "XP_047275167.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCKDHB",
"gene_hgnc_id": 987,
"hgvs_c": "c.356T>G",
"hgvs_p": "p.Val119Gly",
"transcript": "XM_047419212.1",
"protein_id": "XP_047275168.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 358,
"cds_start": 356,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 2181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCKDHB",
"gene_hgnc_id": 987,
"hgvs_c": "c.356T>G",
"hgvs_p": "p.Val119Gly",
"transcript": "XM_047419213.1",
"protein_id": "XP_047275169.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
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"clinvar_disease": "Maple syrup urine disease type 1B",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Maple syrup urine disease type 1B",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}