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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: 11-108271073-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=108271073&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 108271073,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000675843.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.2848C>T",
"hgvs_p": "p.Leu950Phe",
"transcript": "NM_000051.4",
"protein_id": "NP_000042.3",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 3056,
"cds_start": 2848,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 2998,
"cdna_end": null,
"cdna_length": 12915,
"mane_select": "ENST00000675843.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.2848C>T",
"hgvs_p": "p.Leu950Phe",
"transcript": "ENST00000675843.1",
"protein_id": "ENSP00000501606.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 3056,
"cds_start": 2848,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 2998,
"cdna_end": null,
"cdna_length": 12915,
"mane_select": "NM_000051.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.2848C>T",
"hgvs_p": "p.Leu950Phe",
"transcript": "ENST00000452508.7",
"protein_id": "ENSP00000388058.2",
"transcript_support_level": 1,
"aa_start": 950,
"aa_end": null,
"aa_length": 3056,
"cds_start": 2848,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 3330,
"cdna_end": null,
"cdna_length": 13247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.2848C>T",
"hgvs_p": "p.Leu950Phe",
"transcript": "ENST00000531525.3",
"protein_id": "ENSP00000434327.3",
"transcript_support_level": 1,
"aa_start": 950,
"aa_end": null,
"aa_length": 1486,
"cds_start": 2848,
"cds_end": null,
"cds_length": 4461,
"cdna_start": 2998,
"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": 19,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "n.2848C>T",
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "n.201-178C>T",
"hgvs_p": null,
"transcript": "ENST00000419286.2",
"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": 302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.2848C>T",
"hgvs_p": "p.Leu950Phe",
"transcript": "NM_001351834.2",
"protein_id": "NP_001338763.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 3056,
"cds_start": 2848,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 3086,
"cdna_end": null,
"cdna_length": 13003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.2848C>T",
"hgvs_p": "p.Leu950Phe",
"transcript": "ENST00000278616.10",
"protein_id": "ENSP00000278616.4",
"transcript_support_level": 5,
"aa_start": 950,
"aa_end": null,
"aa_length": 3056,
"cds_start": 2848,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 3154,
"cdna_end": null,
"cdna_length": 11233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.2848C>T",
"hgvs_p": "p.Leu950Phe",
"transcript": "ENST00000601453.3",
"protein_id": "ENSP00000469471.2",
"transcript_support_level": 3,
"aa_start": 950,
"aa_end": null,
"aa_length": 3056,
"cds_start": 2848,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 4299,
"cdna_end": null,
"cdna_length": 14216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.2848C>T",
"hgvs_p": "p.Leu950Phe",
"transcript": "ENST00000713844.1",
"protein_id": "ENSP00000519149.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 3056,
"cds_start": 2848,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 3012,
"cdna_end": null,
"cdna_length": 9550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.2848C>T",
"hgvs_p": "p.Leu950Phe",
"transcript": "XM_005271562.6",
"protein_id": "XP_005271619.2",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 3056,
"cds_start": 2848,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 3240,
"cdna_end": null,
"cdna_length": 13157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.2848C>T",
"hgvs_p": "p.Leu950Phe",
"transcript": "XM_006718843.5",
"protein_id": "XP_006718906.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 3056,
"cds_start": 2848,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 3948,
"cdna_end": null,
"cdna_length": 13865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.2848C>T",
"hgvs_p": "p.Leu950Phe",
"transcript": "XM_011542840.4",
"protein_id": "XP_011541142.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 3056,
"cds_start": 2848,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 4036,
"cdna_end": null,
"cdna_length": 13953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.2848C>T",
"hgvs_p": "p.Leu950Phe",
"transcript": "XM_017017790.3",
"protein_id": "XP_016873279.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 3056,
"cds_start": 2848,
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"cdna_start": 3816,
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"cdna_length": 13733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.2848C>T",
"hgvs_p": "p.Leu950Phe",
"transcript": "XM_047426975.1",
"protein_id": "XP_047282931.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 3056,
"cds_start": 2848,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 3789,
"cdna_end": null,
"cdna_length": 13706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.2848C>T",
"hgvs_p": "p.Leu950Phe",
"transcript": "XM_047426976.1",
"protein_id": "XP_047282932.1",
"transcript_support_level": null,
"aa_start": 950,
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"aa_length": 3056,
"cds_start": 2848,
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"cdna_start": 3328,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.2683C>T",
"hgvs_p": "p.Leu895Phe",
"transcript": "XM_011542842.4",
"protein_id": "XP_011541144.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 3001,
"cds_start": 2683,
"cds_end": null,
"cds_length": 9006,
"cdna_start": 2833,
"cdna_end": null,
"cdna_length": 12750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.2683C>T",
"hgvs_p": "p.Leu895Phe",
"transcript": "XM_047426977.1",
"protein_id": "XP_047282933.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 3001,
"cds_start": 2683,
"cds_end": null,
"cds_length": 9006,
"cdna_start": 3871,
"cdna_end": null,
"cdna_length": 13788,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.2683C>T",
"hgvs_p": "p.Leu895Phe",
"transcript": "XM_047426978.1",
"protein_id": "XP_047282934.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
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"cdna_start": 2921,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.2683C>T",
"hgvs_p": "p.Leu895Phe",
"transcript": "XM_047426979.1",
"protein_id": "XP_047282935.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 3001,
"cds_start": 2683,
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"cdna_start": 3783,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.2848C>T",
"hgvs_p": "p.Leu950Phe",
"transcript": "XM_011542843.3",
"protein_id": "XP_011541145.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 2912,
"cds_start": 2848,
"cds_end": null,
"cds_length": 8739,
"cdna_start": 2998,
"cdna_end": null,
"cdna_length": 8923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.1804C>T",
"hgvs_p": "p.Leu602Phe",
"transcript": "XM_011542844.4",
"protein_id": "XP_011541146.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 2708,
"cds_start": 1804,
"cds_end": null,
"cds_length": 8127,
"cdna_start": 2419,
"cdna_end": null,
"cdna_length": 12336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
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],
"gene_symbol": "ATM",
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"hom_count_reference_population": 0,
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"gnomad_genomes_ac": 24,
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"computational_score_selected": 0.35103368759155273,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.20000000298023224,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.416,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5128,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.411,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.2,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM5,BP4",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 1,
"pathogenic_score": 4,
"criteria": [
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"PM5",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000675843.1",
"gene_symbol": "ATM",
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"effects": [
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],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2848C>T",
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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": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:8",
"phenotype_combined": "Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast;Ataxia-telangiectasia syndrome|not provided|not specified|ATM-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}