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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: X-40605655-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=40605655&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 40605655,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000636580.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.953C>A",
"hgvs_p": "p.Ala318Asp",
"transcript": "NM_005765.3",
"protein_id": "NP_005756.2",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 350,
"cds_start": 953,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 2242,
"mane_select": "ENST00000636580.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.953C>A",
"hgvs_p": "p.Ala318Asp",
"transcript": "ENST00000636580.2",
"protein_id": "ENSP00000490083.1",
"transcript_support_level": 1,
"aa_start": 318,
"aa_end": null,
"aa_length": 350,
"cds_start": 953,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 2242,
"mane_select": "NM_005765.3",
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "n.*406C>A",
"hgvs_p": null,
"transcript": "ENST00000636639.1",
"protein_id": "ENSP00000490382.1",
"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": 2125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "n.*406C>A",
"hgvs_p": null,
"transcript": "ENST00000636639.1",
"protein_id": "ENSP00000490382.1",
"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": 2125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.950C>A",
"hgvs_p": "p.Ala317Asp",
"transcript": "ENST00000378438.9",
"protein_id": "ENSP00000367697.5",
"transcript_support_level": 5,
"aa_start": 317,
"aa_end": null,
"aa_length": 349,
"cds_start": 950,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 1058,
"cdna_end": null,
"cdna_length": 2022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.938C>A",
"hgvs_p": "p.Ala313Asp",
"transcript": "ENST00000636196.1",
"protein_id": "ENSP00000490675.1",
"transcript_support_level": 5,
"aa_start": 313,
"aa_end": null,
"aa_length": 345,
"cds_start": 938,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 1403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.896C>A",
"hgvs_p": "p.Ala299Asp",
"transcript": "ENST00000638153.1",
"protein_id": "ENSP00000490239.1",
"transcript_support_level": 5,
"aa_start": 299,
"aa_end": null,
"aa_length": 331,
"cds_start": 896,
"cds_end": null,
"cds_length": 996,
"cdna_start": 1013,
"cdna_end": null,
"cdna_length": 1303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.857C>A",
"hgvs_p": "p.Ala286Asp",
"transcript": "ENST00000636409.1",
"protein_id": "ENSP00000489819.1",
"transcript_support_level": 2,
"aa_start": 286,
"aa_end": null,
"aa_length": 318,
"cds_start": 857,
"cds_end": null,
"cds_length": 957,
"cdna_start": 1029,
"cdna_end": null,
"cdna_length": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.854C>A",
"hgvs_p": "p.Ala285Asp",
"transcript": "ENST00000636287.1",
"protein_id": "ENSP00000490452.1",
"transcript_support_level": 5,
"aa_start": 285,
"aa_end": null,
"aa_length": 317,
"cds_start": 854,
"cds_end": null,
"cds_length": 954,
"cdna_start": 922,
"cdna_end": null,
"cdna_length": 1904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.806C>A",
"hgvs_p": "p.Ala269Asp",
"transcript": "ENST00000637526.1",
"protein_id": "ENSP00000489845.1",
"transcript_support_level": 5,
"aa_start": 269,
"aa_end": null,
"aa_length": 301,
"cds_start": 806,
"cds_end": null,
"cds_length": 906,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 1862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.782C>A",
"hgvs_p": "p.Ala261Asp",
"transcript": "ENST00000637955.1",
"protein_id": "ENSP00000489622.1",
"transcript_support_level": 5,
"aa_start": 261,
"aa_end": null,
"aa_length": 293,
"cds_start": 782,
"cds_end": null,
"cds_length": 882,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 1084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.725C>A",
"hgvs_p": "p.Ala242Asp",
"transcript": "ENST00000637327.1",
"protein_id": "ENSP00000490558.1",
"transcript_support_level": 2,
"aa_start": 242,
"aa_end": null,
"aa_length": 274,
"cds_start": 725,
"cds_end": null,
"cds_length": 825,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 1929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.722C>A",
"hgvs_p": "p.Ala241Asp",
"transcript": "ENST00000636251.1",
"protein_id": "ENSP00000489920.1",
"transcript_support_level": 5,
"aa_start": 241,
"aa_end": null,
"aa_length": 273,
"cds_start": 722,
"cds_end": null,
"cds_length": 822,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 1877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.719C>A",
"hgvs_p": "p.Ala240Asp",
"transcript": "ENST00000423649.2",
"protein_id": "ENSP00000410105.2",
"transcript_support_level": 2,
"aa_start": 240,
"aa_end": null,
"aa_length": 272,
"cds_start": 719,
"cds_end": null,
"cds_length": 819,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 1093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.629C>A",
"hgvs_p": "p.Ala210Asp",
"transcript": "ENST00000636970.1",
"protein_id": "ENSP00000490462.1",
"transcript_support_level": 5,
"aa_start": 210,
"aa_end": null,
"aa_length": 242,
"cds_start": 629,
"cds_end": null,
"cds_length": 729,
"cdna_start": 832,
"cdna_end": null,
"cdna_length": 1187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.491C>A",
"hgvs_p": "p.Ala164Asp",
"transcript": "ENST00000637482.1",
"protein_id": "ENSP00000490532.1",
"transcript_support_level": 5,
"aa_start": 164,
"aa_end": null,
"aa_length": 196,
"cds_start": 491,
"cds_end": null,
"cds_length": 591,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 1648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.461C>A",
"hgvs_p": "p.Ala154Asp",
"transcript": "ENST00000637614.1",
"protein_id": "ENSP00000490884.1",
"transcript_support_level": 5,
"aa_start": 154,
"aa_end": null,
"aa_length": 186,
"cds_start": 461,
"cds_end": null,
"cds_length": 561,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 621,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "n.*541C>A",
"hgvs_p": null,
"transcript": "ENST00000635734.1",
"protein_id": "ENSP00000489653.1",
"transcript_support_level": 5,
"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": 1851,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "n.*421C>A",
"hgvs_p": null,
"transcript": "ENST00000635774.1",
"protein_id": "ENSP00000490733.1",
"transcript_support_level": 5,
"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": 1995,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "n.1546C>A",
"hgvs_p": null,
"transcript": "ENST00000635829.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 2479,
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "n.535C>A",
"hgvs_p": null,
"transcript": "ENST00000636223.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 544,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "n.*519C>A",
"hgvs_p": null,
"transcript": "ENST00000636574.1",
"protein_id": "ENSP00000490345.1",
"transcript_support_level": 5,
"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": 2027,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "n.*169C>A",
"hgvs_p": null,
"transcript": "ENST00000636787.1",
"protein_id": "ENSP00000490954.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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}
],
"gene_symbol": "ATP6AP2",
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"dbsnp": "rs1555978614",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"computational_score_selected": 0.8547810316085815,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.813,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
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{
"score": 4,
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"PP3_Moderate"
],
"verdict": "Uncertain_significance",
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"effects": [
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],
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],
"clinvar_disease": "Syndromic X-linked intellectual disability Hedera type",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Syndromic X-linked intellectual disability Hedera type",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}