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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-13767252-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=13767252&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 13767252,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000340096.11",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2725C>A",
"hgvs_p": "p.Arg909Arg",
"transcript": "NM_003611.3",
"protein_id": "NP_003602.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2725,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 3049,
"cdna_end": null,
"cdna_length": 3612,
"mane_select": "ENST00000340096.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2725C>A",
"hgvs_p": "p.Arg909Arg",
"transcript": "ENST00000340096.11",
"protein_id": "ENSP00000344314.6",
"transcript_support_level": 1,
"aa_start": 909,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2725,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 3049,
"cdna_end": null,
"cdna_length": 3612,
"mane_select": "NM_003611.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2605C>A",
"hgvs_p": "p.Arg869Arg",
"transcript": "ENST00000380550.6",
"protein_id": "ENSP00000369923.3",
"transcript_support_level": 1,
"aa_start": 869,
"aa_end": null,
"aa_length": 972,
"cds_start": 2605,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 2779,
"cdna_end": null,
"cdna_length": 3296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2614C>A",
"hgvs_p": "p.Arg872Arg",
"transcript": "NM_001440947.1",
"protein_id": "NP_001427876.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 975,
"cds_start": 2614,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 2938,
"cdna_end": null,
"cdna_length": 3501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2605C>A",
"hgvs_p": "p.Arg869Arg",
"transcript": "NM_001330209.2",
"protein_id": "NP_001317138.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 972,
"cds_start": 2605,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 2929,
"cdna_end": null,
"cdna_length": 3492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2494C>A",
"hgvs_p": "p.Arg832Arg",
"transcript": "NM_001440948.1",
"protein_id": "NP_001427877.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 935,
"cds_start": 2494,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 2818,
"cdna_end": null,
"cdna_length": 3381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2305C>A",
"hgvs_p": "p.Arg769Arg",
"transcript": "NM_001330210.2",
"protein_id": "NP_001317139.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 872,
"cds_start": 2305,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 3174,
"cdna_end": null,
"cdna_length": 3737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2746C>A",
"hgvs_p": "p.Arg916Arg",
"transcript": "XM_047442583.1",
"protein_id": "XP_047298539.1",
"transcript_support_level": null,
"aa_start": 916,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2746,
"cds_end": null,
"cds_length": 3060,
"cdna_start": 4003,
"cdna_end": null,
"cdna_length": 4566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2746C>A",
"hgvs_p": "p.Arg916Arg",
"transcript": "XM_047442584.1",
"protein_id": "XP_047298540.1",
"transcript_support_level": null,
"aa_start": 916,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2746,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 4003,
"cdna_end": null,
"cdna_length": 8328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2635C>A",
"hgvs_p": "p.Arg879Arg",
"transcript": "XM_047442585.1",
"protein_id": "XP_047298541.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 982,
"cds_start": 2635,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 3892,
"cdna_end": null,
"cdna_length": 4455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2626C>A",
"hgvs_p": "p.Arg876Arg",
"transcript": "XM_047442586.1",
"protein_id": "XP_047298542.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 979,
"cds_start": 2626,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 3883,
"cdna_end": null,
"cdna_length": 4446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2635C>A",
"hgvs_p": "p.Arg879Arg",
"transcript": "XM_047442588.1",
"protein_id": "XP_047298544.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 969,
"cds_start": 2635,
"cds_end": null,
"cds_length": 2910,
"cdna_start": 3892,
"cdna_end": null,
"cdna_length": 8217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2515C>A",
"hgvs_p": "p.Arg839Arg",
"transcript": "XM_047442589.1",
"protein_id": "XP_047298545.1",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
"aa_length": 942,
"cds_start": 2515,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 3772,
"cdna_end": null,
"cdna_length": 4335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2305C>A",
"hgvs_p": "p.Arg769Arg",
"transcript": "XM_017029909.2",
"protein_id": "XP_016885398.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 872,
"cds_start": 2305,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 3483,
"cdna_end": null,
"cdna_length": 4046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.1783C>A",
"hgvs_p": "p.Arg595Arg",
"transcript": "XM_017029911.2",
"protein_id": "XP_016885400.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 698,
"cds_start": 1783,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1905,
"cdna_end": null,
"cdna_length": 2468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.1450C>A",
"hgvs_p": "p.Arg484Arg",
"transcript": "XM_011545598.2",
"protein_id": "XP_011543900.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 587,
"cds_start": 1450,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1584,
"cdna_end": null,
"cdna_length": 2147,
"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": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "n.*2418C>A",
"hgvs_p": null,
"transcript": "ENST00000380567.6",
"protein_id": "ENSP00000369941.2",
"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": 3736,
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "n.*2186C>A",
"hgvs_p": null,
"transcript": "ENST00000398395.8",
"protein_id": "ENSP00000381432.5",
"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": 3309,
"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": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "n.4554C>A",
"hgvs_p": null,
"transcript": "ENST00000464463.6",
"protein_id": null,
"transcript_support_level": 3,
"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": 6615,
"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": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "n.3254C>A",
"hgvs_p": null,
"transcript": "ENST00000490265.6",
"protein_id": null,
"transcript_support_level": 2,
"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": 5315,
"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": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "n.*2285C>A",
"hgvs_p": null,
"transcript": "ENST00000682237.1",
"protein_id": "ENSP00000507121.1",
"transcript_support_level": null,
"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": 4259,
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "n.*4016C>A",
"hgvs_p": null,
"transcript": "ENST00000682562.1",
"protein_id": "ENSP00000507874.1",
"transcript_support_level": null,
"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": 6735,
"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": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "n.*3341C>A",
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"hgvs_p": null,
"transcript": "XM_047442596.1",
"protein_id": "XP_047298552.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 829,
"cds_start": -4,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"dbsnp": "rs1060500123",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.38999998569488525,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.886,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000340096.11",
"gene_symbol": "OFD1",
"hgnc_id": 2567,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "XL,AD,AR",
"hgvs_c": "c.2725C>A",
"hgvs_p": "p.Arg909Arg"
}
],
"clinvar_disease": "Joubert syndrome,Orofaciodigital syndrome I",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Joubert syndrome;Orofaciodigital syndrome I",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}