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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: 17-7673805-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7673805&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7673805,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000546.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.815T>C",
"hgvs_p": "p.Val272Ala",
"transcript": "NM_000546.6",
"protein_id": "NP_000537.3",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 393,
"cds_start": 815,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 2512,
"mane_select": "ENST00000269305.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.815T>C",
"hgvs_p": "p.Val272Ala",
"transcript": "ENST00000269305.9",
"protein_id": "ENSP00000269305.4",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 393,
"cds_start": 815,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 2512,
"mane_select": "NM_000546.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.815T>C",
"hgvs_p": "p.Val272Ala",
"transcript": "ENST00000445888.6",
"protein_id": "ENSP00000391478.2",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 393,
"cds_start": 815,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 2506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.698T>C",
"hgvs_p": "p.Val233Ala",
"transcript": "ENST00000610292.4",
"protein_id": "ENSP00000478219.1",
"transcript_support_level": 1,
"aa_start": 233,
"aa_end": null,
"aa_length": 354,
"cds_start": 698,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 2639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.698T>C",
"hgvs_p": "p.Val233Ala",
"transcript": "ENST00000619485.4",
"protein_id": "ENSP00000482537.1",
"transcript_support_level": 1,
"aa_start": 233,
"aa_end": null,
"aa_length": 354,
"cds_start": 698,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 2506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.698T>C",
"hgvs_p": "p.Val233Ala",
"transcript": "ENST00000620739.4",
"protein_id": "ENSP00000481638.1",
"transcript_support_level": 1,
"aa_start": 233,
"aa_end": null,
"aa_length": 354,
"cds_start": 698,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 2579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.815T>C",
"hgvs_p": "p.Val272Ala",
"transcript": "ENST00000455263.6",
"protein_id": "ENSP00000398846.2",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 346,
"cds_start": 815,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 2580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.815T>C",
"hgvs_p": "p.Val272Ala",
"transcript": "ENST00000576024.2",
"protein_id": "ENSP00000458393.2",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 344,
"cds_start": 815,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 2426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.815T>C",
"hgvs_p": "p.Val272Ala",
"transcript": "ENST00000359597.8",
"protein_id": "ENSP00000352610.4",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 343,
"cds_start": 815,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 1152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.815T>C",
"hgvs_p": "p.Val272Ala",
"transcript": "ENST00000420246.6",
"protein_id": "ENSP00000391127.2",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 341,
"cds_start": 815,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 2653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.698T>C",
"hgvs_p": "p.Val233Ala",
"transcript": "ENST00000610538.4",
"protein_id": "ENSP00000480868.1",
"transcript_support_level": 1,
"aa_start": 233,
"aa_end": null,
"aa_length": 307,
"cds_start": 698,
"cds_end": null,
"cds_length": 924,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 2580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.698T>C",
"hgvs_p": "p.Val233Ala",
"transcript": "ENST00000622645.4",
"protein_id": "ENSP00000482222.1",
"transcript_support_level": 1,
"aa_start": 233,
"aa_end": null,
"aa_length": 302,
"cds_start": 698,
"cds_end": null,
"cds_length": 909,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 2653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.536T>C",
"hgvs_p": "p.Val179Ala",
"transcript": "ENST00000514944.6",
"protein_id": "ENSP00000423862.2",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 300,
"cds_start": 536,
"cds_end": null,
"cds_length": 903,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 2170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.419T>C",
"hgvs_p": "p.Val140Ala",
"transcript": "ENST00000504937.5",
"protein_id": "ENSP00000481179.1",
"transcript_support_level": 1,
"aa_start": 140,
"aa_end": null,
"aa_length": 261,
"cds_start": 419,
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"cds_length": 786,
"cdna_start": 697,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.338T>C",
"hgvs_p": "p.Val113Ala",
"transcript": "ENST00000619186.4",
"protein_id": "ENSP00000484375.1",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 234,
"cds_start": 338,
"cds_end": null,
"cds_length": 705,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 2271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.419T>C",
"hgvs_p": "p.Val140Ala",
"transcript": "ENST00000504290.5",
"protein_id": "ENSP00000484409.1",
"transcript_support_level": 1,
"aa_start": 140,
"aa_end": null,
"aa_length": 214,
"cds_start": 419,
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"cdna_start": 697,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.419T>C",
"hgvs_p": "p.Val140Ala",
"transcript": "ENST00000510385.5",
"protein_id": "ENSP00000478499.1",
"transcript_support_level": 1,
"aa_start": 140,
"aa_end": null,
"aa_length": 209,
"cds_start": 419,
"cds_end": null,
"cds_length": 630,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 2404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.338T>C",
"hgvs_p": "p.Val113Ala",
"transcript": "ENST00000610623.4",
"protein_id": "ENSP00000477531.1",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 187,
"cds_start": 338,
"cds_end": null,
"cds_length": 564,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 2331,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.338T>C",
"hgvs_p": "p.Val113Ala",
"transcript": "ENST00000618944.4",
"protein_id": "ENSP00000481401.1",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 182,
"cds_start": 338,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.782+376T>C",
"hgvs_p": null,
"transcript": "ENST00000413465.6",
"protein_id": "ENSP00000410739.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 285,
"cds_start": -4,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.815T>C",
"hgvs_p": "p.Val272Ala",
"transcript": "ENST00000714408.1",
"protein_id": "ENSP00000519678.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 411,
"cds_start": 815,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 2606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.815T>C",
"hgvs_p": "p.Val272Ala",
"transcript": "NM_001126112.3",
"protein_id": "NP_001119584.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 393,
"cds_start": 815,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 2509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53",
"gene_hgnc_id": 11998,
"hgvs_c": "c.815T>C",
"hgvs_p": "p.Val272Ala",
"transcript": "NM_001407262.1",
"protein_id": "NP_001394191.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
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}
],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
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{
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],
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "Li-Fraumeni syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}