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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: 11-108287656-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=108287656&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 108287656,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000675843.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.4050G>A",
"hgvs_p": "p.Thr1350Thr",
"transcript": "NM_000051.4",
"protein_id": "NP_000042.3",
"transcript_support_level": null,
"aa_start": 1350,
"aa_end": null,
"aa_length": 3056,
"cds_start": 4050,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 4200,
"cdna_end": null,
"cdna_length": 12915,
"mane_select": "ENST00000675843.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.4050G>A",
"hgvs_p": "p.Thr1350Thr",
"transcript": "ENST00000675843.1",
"protein_id": "ENSP00000501606.1",
"transcript_support_level": null,
"aa_start": 1350,
"aa_end": null,
"aa_length": 3056,
"cds_start": 4050,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 4200,
"cdna_end": null,
"cdna_length": 12915,
"mane_select": "NM_000051.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.4050G>A",
"hgvs_p": "p.Thr1350Thr",
"transcript": "ENST00000452508.7",
"protein_id": "ENSP00000388058.2",
"transcript_support_level": 1,
"aa_start": 1350,
"aa_end": null,
"aa_length": 3056,
"cds_start": 4050,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 4532,
"cdna_end": null,
"cdna_length": 13247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.4050G>A",
"hgvs_p": "p.Thr1350Thr",
"transcript": "ENST00000531525.3",
"protein_id": "ENSP00000434327.3",
"transcript_support_level": 1,
"aa_start": 1350,
"aa_end": null,
"aa_length": 1486,
"cds_start": 4050,
"cds_end": null,
"cds_length": 4461,
"cdna_start": 4200,
"cdna_end": null,
"cdna_length": 5656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "n.4050G>A",
"hgvs_p": null,
"transcript": "ENST00000527805.6",
"protein_id": "ENSP00000435747.2",
"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": 9287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "n.1313G>A",
"hgvs_p": null,
"transcript": "ENST00000533733.6",
"protein_id": null,
"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": 2565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.4050G>A",
"hgvs_p": "p.Thr1350Thr",
"transcript": "NM_001351834.2",
"protein_id": "NP_001338763.1",
"transcript_support_level": null,
"aa_start": 1350,
"aa_end": null,
"aa_length": 3056,
"cds_start": 4050,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 4288,
"cdna_end": null,
"cdna_length": 13003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.4050G>A",
"hgvs_p": "p.Thr1350Thr",
"transcript": "ENST00000278616.10",
"protein_id": "ENSP00000278616.4",
"transcript_support_level": 5,
"aa_start": 1350,
"aa_end": null,
"aa_length": 3056,
"cds_start": 4050,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 4356,
"cdna_end": null,
"cdna_length": 11233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.4050G>A",
"hgvs_p": "p.Thr1350Thr",
"transcript": "ENST00000601453.3",
"protein_id": "ENSP00000469471.2",
"transcript_support_level": 3,
"aa_start": 1350,
"aa_end": null,
"aa_length": 3056,
"cds_start": 4050,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 5501,
"cdna_end": null,
"cdna_length": 14216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.4050G>A",
"hgvs_p": "p.Thr1350Thr",
"transcript": "ENST00000713844.1",
"protein_id": "ENSP00000519149.1",
"transcript_support_level": null,
"aa_start": 1350,
"aa_end": null,
"aa_length": 3056,
"cds_start": 4050,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 4214,
"cdna_end": null,
"cdna_length": 9550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.4050G>A",
"hgvs_p": "p.Thr1350Thr",
"transcript": "XM_005271562.6",
"protein_id": "XP_005271619.2",
"transcript_support_level": null,
"aa_start": 1350,
"aa_end": null,
"aa_length": 3056,
"cds_start": 4050,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 4442,
"cdna_end": null,
"cdna_length": 13157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.4050G>A",
"hgvs_p": "p.Thr1350Thr",
"transcript": "XM_006718843.5",
"protein_id": "XP_006718906.1",
"transcript_support_level": null,
"aa_start": 1350,
"aa_end": null,
"aa_length": 3056,
"cds_start": 4050,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 5150,
"cdna_end": null,
"cdna_length": 13865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.4050G>A",
"hgvs_p": "p.Thr1350Thr",
"transcript": "XM_011542840.4",
"protein_id": "XP_011541142.1",
"transcript_support_level": null,
"aa_start": 1350,
"aa_end": null,
"aa_length": 3056,
"cds_start": 4050,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 5238,
"cdna_end": null,
"cdna_length": 13953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.4050G>A",
"hgvs_p": "p.Thr1350Thr",
"transcript": "XM_017017790.3",
"protein_id": "XP_016873279.1",
"transcript_support_level": null,
"aa_start": 1350,
"aa_end": null,
"aa_length": 3056,
"cds_start": 4050,
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"cds_length": 9171,
"cdna_start": 5018,
"cdna_end": null,
"cdna_length": 13733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.4050G>A",
"hgvs_p": "p.Thr1350Thr",
"transcript": "XM_047426975.1",
"protein_id": "XP_047282931.1",
"transcript_support_level": null,
"aa_start": 1350,
"aa_end": null,
"aa_length": 3056,
"cds_start": 4050,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 4991,
"cdna_end": null,
"cdna_length": 13706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.4050G>A",
"hgvs_p": "p.Thr1350Thr",
"transcript": "XM_047426976.1",
"protein_id": "XP_047282932.1",
"transcript_support_level": null,
"aa_start": 1350,
"aa_end": null,
"aa_length": 3056,
"cds_start": 4050,
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"cds_length": 9171,
"cdna_start": 4530,
"cdna_end": null,
"cdna_length": 13245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.3885G>A",
"hgvs_p": "p.Thr1295Thr",
"transcript": "XM_011542842.4",
"protein_id": "XP_011541144.1",
"transcript_support_level": null,
"aa_start": 1295,
"aa_end": null,
"aa_length": 3001,
"cds_start": 3885,
"cds_end": null,
"cds_length": 9006,
"cdna_start": 4035,
"cdna_end": null,
"cdna_length": 12750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.3885G>A",
"hgvs_p": "p.Thr1295Thr",
"transcript": "XM_047426977.1",
"protein_id": "XP_047282933.1",
"transcript_support_level": null,
"aa_start": 1295,
"aa_end": null,
"aa_length": 3001,
"cds_start": 3885,
"cds_end": null,
"cds_length": 9006,
"cdna_start": 5073,
"cdna_end": null,
"cdna_length": 13788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.3885G>A",
"hgvs_p": "p.Thr1295Thr",
"transcript": "XM_047426978.1",
"protein_id": "XP_047282934.1",
"transcript_support_level": null,
"aa_start": 1295,
"aa_end": null,
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"cds_start": 3885,
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"cdna_start": 4123,
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"cdna_length": 12838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.3885G>A",
"hgvs_p": "p.Thr1295Thr",
"transcript": "XM_047426979.1",
"protein_id": "XP_047282935.1",
"transcript_support_level": null,
"aa_start": 1295,
"aa_end": null,
"aa_length": 3001,
"cds_start": 3885,
"cds_end": null,
"cds_length": 9006,
"cdna_start": 4985,
"cdna_end": null,
"cdna_length": 13700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.4050G>A",
"hgvs_p": "p.Thr1350Thr",
"transcript": "XM_011542843.3",
"protein_id": "XP_011541145.1",
"transcript_support_level": null,
"aa_start": 1350,
"aa_end": null,
"aa_length": 2912,
"cds_start": 4050,
"cds_end": null,
"cds_length": 8739,
"cdna_start": 4200,
"cdna_end": null,
"cdna_length": 8923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.3006G>A",
"hgvs_p": "p.Thr1002Thr",
"transcript": "XM_011542844.4",
"protein_id": "XP_011541146.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 2708,
"cds_start": 3006,
"cds_end": null,
"cds_length": 8127,
"cdna_start": 3621,
"cdna_end": null,
"cdna_length": 12336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
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],
"gene_symbol": "ATM",
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"computational_score_selected": 0.16300000250339508,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.163,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.364,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": -11,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
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"BP7"
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"verdict": "Benign",
"transcript": "ENST00000675843.1",
"gene_symbol": "ATM",
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"effects": [
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],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.4050G>A",
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],
"clinvar_disease": "ATM-related disorder,Ataxia-telangiectasia syndrome,Familial cancer of breast,Hereditary cancer-predisposing syndrome,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:8 B:2",
"phenotype_combined": "Hereditary cancer-predisposing syndrome|not specified|Ataxia-telangiectasia syndrome|ATM-related disorder|Familial cancer of breast|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}