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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: 16-66531418-C-CAT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=66531418&ref=C&alt=CAT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 66531418,
"ref": "C",
"alt": "CAT",
"effect": "frameshift_variant",
"transcript": "NM_004614.5",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.335_336dupAT",
"hgvs_p": "p.Val113fs",
"transcript": "NM_004614.5",
"protein_id": "NP_004605.4",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 265,
"cds_start": 336,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000544898.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004614.5"
},
{
"aa_ref": "Y",
"aa_alt": "Y?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.335_336dupAT",
"hgvs_p": "p.Val113fs",
"transcript": "ENST00000544898.6",
"protein_id": "ENSP00000440898.2",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 265,
"cds_start": 336,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004614.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544898.6"
},
{
"aa_ref": "Y",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.242_243dupAT",
"hgvs_p": "p.Val82fs",
"transcript": "ENST00000451102.7",
"protein_id": "ENSP00000414334.4",
"transcript_support_level": 1,
"aa_start": 81,
"aa_end": null,
"aa_length": 234,
"cds_start": 243,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451102.7"
},
{
"aa_ref": "Y",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.278_279dupAT",
"hgvs_p": "p.Val94fs",
"transcript": "ENST00000527284.6",
"protein_id": "ENSP00000435312.2",
"transcript_support_level": 1,
"aa_start": 93,
"aa_end": null,
"aa_length": 219,
"cds_start": 279,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527284.6"
},
{
"aa_ref": "Y",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.167_168dupAT",
"hgvs_p": "p.Val57fs",
"transcript": "ENST00000299697.12",
"protein_id": "ENSP00000299697.9",
"transcript_support_level": 1,
"aa_start": 56,
"aa_end": null,
"aa_length": 209,
"cds_start": 168,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299697.12"
},
{
"aa_ref": "Y",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.44_45dupAT",
"hgvs_p": "p.Val16fs",
"transcript": "ENST00000527800.6",
"protein_id": "ENSP00000433770.1",
"transcript_support_level": 1,
"aa_start": 15,
"aa_end": null,
"aa_length": 168,
"cds_start": 45,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527800.6"
},
{
"aa_ref": "Y",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.242_243dupAT",
"hgvs_p": "p.Val82fs",
"transcript": "ENST00000569718.6",
"protein_id": "ENSP00000464313.2",
"transcript_support_level": 1,
"aa_start": 81,
"aa_end": null,
"aa_length": 146,
"cds_start": 243,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569718.6"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "n.*193_*194dupAT",
"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": 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": "ENST00000567357.6"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "n.*193_*194dupAT",
"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": 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": "ENST00000567357.6"
},
{
"aa_ref": "Y",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.335_336dupAT",
"hgvs_p": "p.Val113fs",
"transcript": "ENST00000564917.5",
"protein_id": "ENSP00000455187.1",
"transcript_support_level": 3,
"aa_start": 112,
"aa_end": null,
"aa_length": 282,
"cds_start": 336,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564917.5"
},
{
"aa_ref": "Y",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.281_282dupAT",
"hgvs_p": "p.Val95fs",
"transcript": "NM_001172645.2",
"protein_id": "NP_001166116.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 247,
"cds_start": 282,
"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_001172645.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.281_282dupAT",
"hgvs_p": "p.Val95fs",
"transcript": "ENST00000417693.8",
"protein_id": "ENSP00000407469.5",
"transcript_support_level": 2,
"aa_start": 94,
"aa_end": null,
"aa_length": 247,
"cds_start": 282,
"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": "ENST00000417693.8"
},
{
"aa_ref": "Y",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.260_261dupAT",
"hgvs_p": "p.Val88fs",
"transcript": "NM_001172644.2",
"protein_id": "NP_001166115.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 240,
"cds_start": 261,
"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": "NM_001172644.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.260_261dupAT",
"hgvs_p": "p.Val88fs",
"transcript": "ENST00000545043.6",
"protein_id": "ENSP00000438143.2",
"transcript_support_level": 2,
"aa_start": 87,
"aa_end": null,
"aa_length": 240,
"cds_start": 261,
"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": "ENST00000545043.6"
},
{
"aa_ref": "Y",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.242_243dupAT",
"hgvs_p": "p.Val82fs",
"transcript": "NM_001172643.1",
"protein_id": "NP_001166114.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 234,
"cds_start": 243,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172643.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.188_189dupAT",
"hgvs_p": "p.Val64fs",
"transcript": "NM_001271934.2",
"protein_id": "NP_001258863.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 216,
"cds_start": 189,
"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": "NM_001271934.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.44_45dupAT",
"hgvs_p": "p.Val16fs",
"transcript": "NM_001272050.2",
"protein_id": "NP_001258979.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 168,
"cds_start": 45,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001272050.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.44_45dupAT",
"hgvs_p": "p.Val16fs",
"transcript": "ENST00000525974.5",
"protein_id": "ENSP00000434594.1",
"transcript_support_level": 2,
"aa_start": 15,
"aa_end": null,
"aa_length": 168,
"cds_start": 45,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525974.5"
},
{
"aa_ref": "Y",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.44_45dupAT",
"hgvs_p": "p.Val16fs",
"transcript": "ENST00000563369.6",
"protein_id": "ENSP00000463560.1",
"transcript_support_level": 5,
"aa_start": 15,
"aa_end": null,
"aa_length": 168,
"cds_start": 45,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563369.6"
},
{
"aa_ref": "Y",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.44_45dupAT",
"hgvs_p": "p.Val16fs",
"transcript": "ENST00000677420.1",
"protein_id": "ENSP00000504648.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 168,
"cds_start": 45,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677420.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.44_45dupAT",
"hgvs_p": "p.Val16fs",
"transcript": "ENST00000677555.1",
"protein_id": "ENSP00000503331.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 168,
"cds_start": 45,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677555.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.44_45dupAT",
"hgvs_p": "p.Val16fs",
"transcript": "ENST00000677715.1",
"protein_id": "ENSP00000502950.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 168,
"cds_start": 45,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677715.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
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}
],
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}