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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: 17-7676152-C-CG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7676152&ref=C&alt=CG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7676152,
"ref": "C",
"alt": "CG",
"effect": "frameshift_variant",
"transcript": "NM_000546.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.216dupC",
"hgvs_p": "p.Val73fs",
"transcript": "NM_000546.6",
"protein_id": "NP_000537.3",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 393,
"cds_start": 216,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 2512,
"mane_select": "ENST00000269305.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.216dupC",
"hgvs_p": "p.Val73fs",
"transcript": "ENST00000269305.9",
"protein_id": "ENSP00000269305.4",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 393,
"cds_start": 216,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 2512,
"mane_select": "NM_000546.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.216dupC",
"hgvs_p": "p.Val73fs",
"transcript": "ENST00000445888.6",
"protein_id": "ENSP00000391478.2",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 393,
"cds_start": 216,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 352,
"cdna_end": null,
"cdna_length": 2506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.99dupC",
"hgvs_p": "p.Val34fs",
"transcript": "ENST00000610292.4",
"protein_id": "ENSP00000478219.1",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 354,
"cds_start": 99,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 2639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.99dupC",
"hgvs_p": "p.Val34fs",
"transcript": "ENST00000619485.4",
"protein_id": "ENSP00000482537.1",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 354,
"cds_start": 99,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 352,
"cdna_end": null,
"cdna_length": 2506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.99dupC",
"hgvs_p": "p.Val34fs",
"transcript": "ENST00000620739.4",
"protein_id": "ENSP00000481638.1",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 354,
"cds_start": 99,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 406,
"cdna_end": null,
"cdna_length": 2579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.216dupC",
"hgvs_p": "p.Val73fs",
"transcript": "ENST00000455263.6",
"protein_id": "ENSP00000398846.2",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 346,
"cds_start": 216,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 2580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.216dupC",
"hgvs_p": "p.Val73fs",
"transcript": "ENST00000576024.2",
"protein_id": "ENSP00000458393.2",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 344,
"cds_start": 216,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 2426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.216dupC",
"hgvs_p": "p.Val73fs",
"transcript": "ENST00000359597.8",
"protein_id": "ENSP00000352610.4",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 343,
"cds_start": 216,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 216,
"cdna_end": null,
"cdna_length": 1152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.216dupC",
"hgvs_p": "p.Val73fs",
"transcript": "ENST00000420246.6",
"protein_id": "ENSP00000391127.2",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 341,
"cds_start": 216,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 2653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.99dupC",
"hgvs_p": "p.Val34fs",
"transcript": "ENST00000610538.4",
"protein_id": "ENSP00000480868.1",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 307,
"cds_start": 99,
"cds_end": null,
"cds_length": 924,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 2580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.99dupC",
"hgvs_p": "p.Val34fs",
"transcript": "ENST00000622645.4",
"protein_id": "ENSP00000482222.1",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 302,
"cds_start": 99,
"cds_end": null,
"cds_length": 909,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 2653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.216dupC",
"hgvs_p": "p.Val73fs",
"transcript": "ENST00000413465.6",
"protein_id": "ENSP00000410739.2",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 285,
"cds_start": 216,
"cds_end": null,
"cds_length": 858,
"cdna_start": 216,
"cdna_end": null,
"cdna_length": 1018,
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.96+229dupC",
"hgvs_p": null,
"transcript": "ENST00000514944.6",
"protein_id": "ENSP00000423862.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.216dupC",
"hgvs_p": "p.Val73fs",
"transcript": "ENST00000714408.1",
"protein_id": "ENSP00000519678.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 411,
"cds_start": 216,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 2606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.216dupC",
"hgvs_p": "p.Val73fs",
"transcript": "NM_001126112.3",
"protein_id": "NP_001119584.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 393,
"cds_start": 216,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 2509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.216dupC",
"hgvs_p": "p.Val73fs",
"transcript": "NM_001407262.1",
"protein_id": "NP_001394191.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 393,
"cds_start": 216,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 2615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.216dupC",
"hgvs_p": "p.Val73fs",
"transcript": "NM_001407264.1",
"protein_id": "NP_001394193.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 393,
"cds_start": 216,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 368,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.216dupC",
"hgvs_p": "p.Val73fs",
"transcript": "NM_001407266.1",
"protein_id": "NP_001394195.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
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"cds_start": 216,
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"cdna_start": 371,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.216dupC",
"hgvs_p": "p.Val73fs",
"transcript": "ENST00000503591.2",
"protein_id": "ENSP00000426252.2",
"transcript_support_level": 5,
"aa_start": 72,
"aa_end": null,
"aa_length": 393,
"cds_start": 216,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 398,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.216dupC",
"hgvs_p": "p.Val73fs",
"transcript": "ENST00000508793.6",
"protein_id": "ENSP00000424104.2",
"transcript_support_level": 4,
"aa_start": 72,
"aa_end": null,
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"cds_start": 216,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.216dupC",
"hgvs_p": "p.Val73fs",
"transcript": "ENST00000714357.1",
"protein_id": "ENSP00000519624.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 393,
"cds_start": 216,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 286,
"cdna_end": null,
"cdna_length": 2448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.216dupC",
"hgvs_p": "p.Val73fs",
"transcript": "ENST00000714359.1",
"protein_id": "ENSP00000519626.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 393,
"cds_start": 216,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 333,
"cdna_end": null,
"cdna_length": 2383,
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"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.628,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_000546.6",
"gene_symbol": "TP53",
"hgnc_id": 11998,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.216dupC",
"hgvs_p": "p.Val73fs"
}
],
"clinvar_disease": "Breast and/or ovarian cancer,Hereditary cancer-predisposing syndrome,Li-Fraumeni syndrome,Li-Fraumeni syndrome 1,Li-fraumeni-like syndrome,Multiple myeloma,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:9",
"phenotype_combined": "Li-fraumeni-like syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Multiple myeloma|Li-Fraumeni syndrome 1|Breast and/or ovarian cancer|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}