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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: 16-66513786-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=66513786&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 66513786,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000544898.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.644T>C",
"hgvs_p": "p.Leu215Pro",
"transcript": "NM_004614.5",
"protein_id": "NP_004605.4",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 265,
"cds_start": 644,
"cds_end": null,
"cds_length": 798,
"cdna_start": 705,
"cdna_end": null,
"cdna_length": 4824,
"mane_select": "ENST00000544898.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.644T>C",
"hgvs_p": "p.Leu215Pro",
"transcript": "ENST00000544898.6",
"protein_id": "ENSP00000440898.2",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 265,
"cds_start": 644,
"cds_end": null,
"cds_length": 798,
"cdna_start": 705,
"cdna_end": null,
"cdna_length": 4824,
"mane_select": "NM_004614.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.551T>C",
"hgvs_p": "p.Leu184Pro",
"transcript": "ENST00000451102.7",
"protein_id": "ENSP00000414334.4",
"transcript_support_level": 1,
"aa_start": 184,
"aa_end": null,
"aa_length": 234,
"cds_start": 551,
"cds_end": null,
"cds_length": 705,
"cdna_start": 692,
"cdna_end": null,
"cdna_length": 3371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.476T>C",
"hgvs_p": "p.Leu159Pro",
"transcript": "ENST00000299697.12",
"protein_id": "ENSP00000299697.9",
"transcript_support_level": 1,
"aa_start": 159,
"aa_end": null,
"aa_length": 209,
"cds_start": 476,
"cds_end": null,
"cds_length": 630,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 3177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.353T>C",
"hgvs_p": "p.Leu118Pro",
"transcript": "ENST00000527800.6",
"protein_id": "ENSP00000433770.1",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 168,
"cds_start": 353,
"cds_end": null,
"cds_length": 507,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 2745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.382T>C",
"hgvs_p": "p.Ser128Pro",
"transcript": "ENST00000569718.6",
"protein_id": "ENSP00000464313.2",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 146,
"cds_start": 382,
"cds_end": null,
"cds_length": 441,
"cdna_start": 818,
"cdna_end": null,
"cdna_length": 1198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000260851",
"gene_hgnc_id": null,
"hgvs_c": "n.92T>C",
"hgvs_p": null,
"transcript": "ENST00000561728.1",
"protein_id": "ENSP00000462196.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "n.*502T>C",
"hgvs_p": null,
"transcript": "ENST00000567357.6",
"protein_id": "ENSP00000457959.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "n.*502T>C",
"hgvs_p": null,
"transcript": "ENST00000567357.6",
"protein_id": "ENSP00000457959.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.562-1720T>C",
"hgvs_p": null,
"transcript": "ENST00000527284.6",
"protein_id": "ENSP00000435312.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 219,
"cds_start": -4,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.695T>C",
"hgvs_p": "p.Leu232Pro",
"transcript": "ENST00000564917.5",
"protein_id": "ENSP00000455187.1",
"transcript_support_level": 3,
"aa_start": 232,
"aa_end": null,
"aa_length": 282,
"cds_start": 695,
"cds_end": null,
"cds_length": 849,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 1156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.590T>C",
"hgvs_p": "p.Leu197Pro",
"transcript": "NM_001172645.2",
"protein_id": "NP_001166116.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 247,
"cds_start": 590,
"cds_end": null,
"cds_length": 744,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 4770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.590T>C",
"hgvs_p": "p.Leu197Pro",
"transcript": "ENST00000417693.8",
"protein_id": "ENSP00000407469.5",
"transcript_support_level": 2,
"aa_start": 197,
"aa_end": null,
"aa_length": 247,
"cds_start": 590,
"cds_end": null,
"cds_length": 744,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 1046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.569T>C",
"hgvs_p": "p.Leu190Pro",
"transcript": "NM_001172644.2",
"protein_id": "NP_001166115.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 240,
"cds_start": 569,
"cds_end": null,
"cds_length": 723,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 4749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.569T>C",
"hgvs_p": "p.Leu190Pro",
"transcript": "ENST00000545043.6",
"protein_id": "ENSP00000438143.2",
"transcript_support_level": 2,
"aa_start": 190,
"aa_end": null,
"aa_length": 240,
"cds_start": 569,
"cds_end": null,
"cds_length": 723,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 1120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.551T>C",
"hgvs_p": "p.Leu184Pro",
"transcript": "NM_001172643.1",
"protein_id": "NP_001166114.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 234,
"cds_start": 551,
"cds_end": null,
"cds_length": 705,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 4678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.497T>C",
"hgvs_p": "p.Leu166Pro",
"transcript": "NM_001271934.2",
"protein_id": "NP_001258863.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 216,
"cds_start": 497,
"cds_end": null,
"cds_length": 651,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 4919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.353T>C",
"hgvs_p": "p.Leu118Pro",
"transcript": "NM_001272050.2",
"protein_id": "NP_001258979.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 168,
"cds_start": 353,
"cds_end": null,
"cds_length": 507,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 5185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.353T>C",
"hgvs_p": "p.Leu118Pro",
"transcript": "ENST00000525974.5",
"protein_id": "ENSP00000434594.1",
"transcript_support_level": 2,
"aa_start": 118,
"aa_end": null,
"aa_length": 168,
"cds_start": 353,
"cds_end": null,
"cds_length": 507,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 1178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.353T>C",
"hgvs_p": "p.Leu118Pro",
"transcript": "ENST00000563369.6",
"protein_id": "ENSP00000463560.1",
"transcript_support_level": 5,
"aa_start": 118,
"aa_end": null,
"aa_length": 168,
"cds_start": 353,
"cds_end": null,
"cds_length": 507,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.353T>C",
"hgvs_p": "p.Leu118Pro",
"transcript": "ENST00000677420.1",
"protein_id": "ENSP00000504648.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 168,
"cds_start": 353,
"cds_end": null,
"cds_length": 507,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 2930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.353T>C",
"hgvs_p": "p.Leu118Pro",
"transcript": "ENST00000677555.1",
"protein_id": "ENSP00000503331.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 168,
"cds_start": 353,
"cds_end": null,
"cds_length": 507,
"cdna_start": 1296,
"cdna_end": null,
"cdna_length": 2585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.353T>C",
"hgvs_p": "p.Leu118Pro",
"transcript": "ENST00000677715.1",
"protein_id": "ENSP00000502950.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 168,
"cds_start": 353,
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"clinvar_disease": "Mitochondrial disease,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "not provided|Mitochondrial disease",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}