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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-40605624-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=40605624&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 40605624,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005765.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "H",
"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.922A>C",
"hgvs_p": "p.Asn308His",
"transcript": "NM_005765.3",
"protein_id": "NP_005756.2",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 350,
"cds_start": 922,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 1018,
"cdna_end": null,
"cdna_length": 2242,
"mane_select": "ENST00000636580.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"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.922A>C",
"hgvs_p": "p.Asn308His",
"transcript": "ENST00000636580.2",
"protein_id": "ENSP00000490083.1",
"transcript_support_level": 1,
"aa_start": 308,
"aa_end": null,
"aa_length": 350,
"cds_start": 922,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 1018,
"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.*375A>C",
"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.*375A>C",
"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": "N",
"aa_alt": "H",
"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.919A>C",
"hgvs_p": "p.Asn307His",
"transcript": "ENST00000378438.9",
"protein_id": "ENSP00000367697.5",
"transcript_support_level": 5,
"aa_start": 307,
"aa_end": null,
"aa_length": 349,
"cds_start": 919,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 1027,
"cdna_end": null,
"cdna_length": 2022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"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.907A>C",
"hgvs_p": "p.Asn303His",
"transcript": "ENST00000636196.1",
"protein_id": "ENSP00000490675.1",
"transcript_support_level": 5,
"aa_start": 303,
"aa_end": null,
"aa_length": 345,
"cds_start": 907,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1003,
"cdna_end": null,
"cdna_length": 1403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"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.865A>C",
"hgvs_p": "p.Asn289His",
"transcript": "ENST00000638153.1",
"protein_id": "ENSP00000490239.1",
"transcript_support_level": 5,
"aa_start": 289,
"aa_end": null,
"aa_length": 331,
"cds_start": 865,
"cds_end": null,
"cds_length": 996,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 1303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"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.826A>C",
"hgvs_p": "p.Asn276His",
"transcript": "ENST00000636409.1",
"protein_id": "ENSP00000489819.1",
"transcript_support_level": 2,
"aa_start": 276,
"aa_end": null,
"aa_length": 318,
"cds_start": 826,
"cds_end": null,
"cds_length": 957,
"cdna_start": 998,
"cdna_end": null,
"cdna_length": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"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.823A>C",
"hgvs_p": "p.Asn275His",
"transcript": "ENST00000636287.1",
"protein_id": "ENSP00000490452.1",
"transcript_support_level": 5,
"aa_start": 275,
"aa_end": null,
"aa_length": 317,
"cds_start": 823,
"cds_end": null,
"cds_length": 954,
"cdna_start": 891,
"cdna_end": null,
"cdna_length": 1904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"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.775A>C",
"hgvs_p": "p.Asn259His",
"transcript": "ENST00000637526.1",
"protein_id": "ENSP00000489845.1",
"transcript_support_level": 5,
"aa_start": 259,
"aa_end": null,
"aa_length": 301,
"cds_start": 775,
"cds_end": null,
"cds_length": 906,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 1862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"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.751A>C",
"hgvs_p": "p.Asn251His",
"transcript": "ENST00000637955.1",
"protein_id": "ENSP00000489622.1",
"transcript_support_level": 5,
"aa_start": 251,
"aa_end": null,
"aa_length": 293,
"cds_start": 751,
"cds_end": null,
"cds_length": 882,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 1084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"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.694A>C",
"hgvs_p": "p.Asn232His",
"transcript": "ENST00000637327.1",
"protein_id": "ENSP00000490558.1",
"transcript_support_level": 2,
"aa_start": 232,
"aa_end": null,
"aa_length": 274,
"cds_start": 694,
"cds_end": null,
"cds_length": 825,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 1929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"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.691A>C",
"hgvs_p": "p.Asn231His",
"transcript": "ENST00000636251.1",
"protein_id": "ENSP00000489920.1",
"transcript_support_level": 5,
"aa_start": 231,
"aa_end": null,
"aa_length": 273,
"cds_start": 691,
"cds_end": null,
"cds_length": 822,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 1877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"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.688A>C",
"hgvs_p": "p.Asn230His",
"transcript": "ENST00000423649.2",
"protein_id": "ENSP00000410105.2",
"transcript_support_level": 2,
"aa_start": 230,
"aa_end": null,
"aa_length": 272,
"cds_start": 688,
"cds_end": null,
"cds_length": 819,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 1093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"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.598A>C",
"hgvs_p": "p.Asn200His",
"transcript": "ENST00000636970.1",
"protein_id": "ENSP00000490462.1",
"transcript_support_level": 5,
"aa_start": 200,
"aa_end": null,
"aa_length": 242,
"cds_start": 598,
"cds_end": null,
"cds_length": 729,
"cdna_start": 801,
"cdna_end": null,
"cdna_length": 1187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"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.460A>C",
"hgvs_p": "p.Asn154His",
"transcript": "ENST00000637482.1",
"protein_id": "ENSP00000490532.1",
"transcript_support_level": 5,
"aa_start": 154,
"aa_end": null,
"aa_length": 196,
"cds_start": 460,
"cds_end": null,
"cds_length": 591,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 1648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"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.430A>C",
"hgvs_p": "p.Asn144His",
"transcript": "ENST00000637614.1",
"protein_id": "ENSP00000490884.1",
"transcript_support_level": 5,
"aa_start": 144,
"aa_end": null,
"aa_length": 186,
"cds_start": 430,
"cds_end": null,
"cds_length": 561,
"cdna_start": 430,
"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.*510A>C",
"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.*390A>C",
"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.1515A>C",
"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.504A>C",
"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.*488A>C",
"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.*138A>C",
"hgvs_p": null,
"transcript": "ENST00000636787.1",
"protein_id": "ENSP00000490954.1",
"transcript_support_level": 5,
"aa_start": null,
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{
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{
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"gene_symbol": "ATP6AP2",
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"transcript": "ENST00000486558.6",
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}
],
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"dbsnp": "rs756836341",
"frequency_reference_population": 0.000033116175,
"hom_count_reference_population": 8,
"allele_count_reference_population": 40,
"gnomad_exomes_af": 0.0000273741,
"gnomad_genomes_af": 0.0000893304,
"gnomad_exomes_ac": 30,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.579819917678833,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.402,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4654,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.911,
"phylop100way_prediction": "Pathogenic",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP6",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_005765.3",
"gene_symbol": "ATP6AP2",
"hgnc_id": 18305,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL,AR,Unknown",
"hgvs_c": "c.922A>C",
"hgvs_p": "p.Asn308His"
}
],
"clinvar_disease": "Inborn genetic diseases,Syndromic X-linked intellectual disability Hedera type,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2",
"phenotype_combined": "Syndromic X-linked intellectual disability Hedera type|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}