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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-13760485-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=13760485&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 13760485,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000340096.11",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2025G>T",
"hgvs_p": "p.Leu675Phe",
"transcript": "NM_003611.3",
"protein_id": "NP_003602.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2025,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 2349,
"cdna_end": null,
"cdna_length": 3612,
"mane_select": "ENST00000340096.11",
"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": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2025G>T",
"hgvs_p": "p.Leu675Phe",
"transcript": "ENST00000340096.11",
"protein_id": "ENSP00000344314.6",
"transcript_support_level": 1,
"aa_start": 675,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2025,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 2349,
"cdna_end": null,
"cdna_length": 3612,
"mane_select": "NM_003611.3",
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.1905G>T",
"hgvs_p": "p.Leu635Phe",
"transcript": "ENST00000380550.6",
"protein_id": "ENSP00000369923.3",
"transcript_support_level": 1,
"aa_start": 635,
"aa_end": null,
"aa_length": 972,
"cds_start": 1905,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 2079,
"cdna_end": null,
"cdna_length": 3296,
"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": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2025G>T",
"hgvs_p": "p.Leu675Phe",
"transcript": "NM_001440947.1",
"protein_id": "NP_001427876.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 975,
"cds_start": 2025,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 2349,
"cdna_end": null,
"cdna_length": 3501,
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.1905G>T",
"hgvs_p": "p.Leu635Phe",
"transcript": "NM_001330209.2",
"protein_id": "NP_001317138.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 972,
"cds_start": 1905,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 2229,
"cdna_end": null,
"cdna_length": 3492,
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.1905G>T",
"hgvs_p": "p.Leu635Phe",
"transcript": "NM_001440948.1",
"protein_id": "NP_001427877.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 935,
"cds_start": 1905,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 2229,
"cdna_end": null,
"cdna_length": 3381,
"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": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.1605G>T",
"hgvs_p": "p.Leu535Phe",
"transcript": "NM_001330210.2",
"protein_id": "NP_001317139.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 872,
"cds_start": 1605,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 2474,
"cdna_end": null,
"cdna_length": 3737,
"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": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2046G>T",
"hgvs_p": "p.Leu682Phe",
"transcript": "XM_047442583.1",
"protein_id": "XP_047298539.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2046,
"cds_end": null,
"cds_length": 3060,
"cdna_start": 3303,
"cdna_end": null,
"cdna_length": 4566,
"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": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2046G>T",
"hgvs_p": "p.Leu682Phe",
"transcript": "XM_047442584.1",
"protein_id": "XP_047298540.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2046,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 3303,
"cdna_end": null,
"cdna_length": 8328,
"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": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2046G>T",
"hgvs_p": "p.Leu682Phe",
"transcript": "XM_047442585.1",
"protein_id": "XP_047298541.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 982,
"cds_start": 2046,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 3303,
"cdna_end": null,
"cdna_length": 4455,
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.1926G>T",
"hgvs_p": "p.Leu642Phe",
"transcript": "XM_047442586.1",
"protein_id": "XP_047298542.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 979,
"cds_start": 1926,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 3183,
"cdna_end": null,
"cdna_length": 4446,
"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": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2046G>T",
"hgvs_p": "p.Leu682Phe",
"transcript": "XM_047442588.1",
"protein_id": "XP_047298544.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 969,
"cds_start": 2046,
"cds_end": null,
"cds_length": 2910,
"cdna_start": 3303,
"cdna_end": null,
"cdna_length": 8217,
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.1926G>T",
"hgvs_p": "p.Leu642Phe",
"transcript": "XM_047442589.1",
"protein_id": "XP_047298545.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 942,
"cds_start": 1926,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 3183,
"cdna_end": null,
"cdna_length": 4335,
"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": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2046G>T",
"hgvs_p": "p.Leu682Phe",
"transcript": "XM_047442591.1",
"protein_id": "XP_047298547.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 876,
"cds_start": 2046,
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"cds_length": 2631,
"cdna_start": 3303,
"cdna_end": null,
"cdna_length": 3955,
"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": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.1605G>T",
"hgvs_p": "p.Leu535Phe",
"transcript": "XM_017029909.2",
"protein_id": "XP_016885398.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 872,
"cds_start": 1605,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 2783,
"cdna_end": null,
"cdna_length": 4046,
"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": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2025G>T",
"hgvs_p": "p.Leu675Phe",
"transcript": "XM_047442592.1",
"protein_id": "XP_047298548.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 869,
"cds_start": 2025,
"cds_end": null,
"cds_length": 2610,
"cdna_start": 2349,
"cdna_end": null,
"cdna_length": 3001,
"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": 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.2046G>T",
"hgvs_p": "p.Leu682Phe",
"transcript": "XM_047442593.1",
"protein_id": "XP_047298549.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 836,
"cds_start": 2046,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 3303,
"cdna_end": null,
"cdna_length": 3844,
"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": 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.2046G>T",
"hgvs_p": "p.Leu682Phe",
"transcript": "XM_047442594.1",
"protein_id": "XP_047298550.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 836,
"cds_start": 2046,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 3303,
"cdna_end": null,
"cdna_length": 3906,
"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": 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.2025G>T",
"hgvs_p": "p.Leu675Phe",
"transcript": "XM_047442595.1",
"protein_id": "XP_047298551.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 829,
"cds_start": 2025,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 2349,
"cdna_end": null,
"cdna_length": 2890,
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.1905G>T",
"hgvs_p": "p.Leu635Phe",
"transcript": "XM_047442596.1",
"protein_id": "XP_047298552.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 829,
"cds_start": 1905,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 2229,
"cdna_end": null,
"cdna_length": 2881,
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.1905G>T",
"hgvs_p": "p.Leu635Phe",
"transcript": "XM_047442597.1",
"protein_id": "XP_047298553.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 789,
"cds_start": 1905,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 2229,
"cdna_end": null,
"cdna_length": 2836,
"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": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.1083G>T",
"hgvs_p": "p.Leu361Phe",
"transcript": "XM_017029911.2",
"protein_id": "XP_016885400.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 698,
"cds_start": 1083,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 2468,
"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": 5,
"exon_rank_end": null,
"exon_count": 12,
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},
{
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},
{
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"protein_coding": false,
"strand": true,
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"3_prime_UTR_variant"
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"cdna_length": 3498,
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}
],
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"dbsnp": "rs149473481",
"frequency_reference_population": 0.000023130202,
"hom_count_reference_population": 7,
"allele_count_reference_population": 27,
"gnomad_exomes_af": 0.0000236882,
"gnomad_genomes_af": 0.0000178686,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.110373854637146,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.295,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0772,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.133,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS2",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000340096.11",
"gene_symbol": "OFD1",
"hgnc_id": 2567,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL,AD,AR",
"hgvs_c": "c.2025G>T",
"hgvs_p": "p.Leu675Phe"
}
],
"clinvar_disease": "Joubert syndrome,Orofaciodigital syndrome I,Primary ciliary dyskinesia",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 B:1",
"phenotype_combined": "Joubert syndrome;Orofaciodigital syndrome I|Primary ciliary dyskinesia",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}