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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-13756615-TAACAA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=13756615&ref=TAACAA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 13756615,
"ref": "TAACAA",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000340096.11",
"consequences": [
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.1268_1272delAAAAC",
"hgvs_p": "p.Gln423fs",
"transcript": "NM_003611.3",
"protein_id": "NP_003602.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 1012,
"cds_start": 1268,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 1592,
"cdna_end": null,
"cdna_length": 3612,
"mane_select": "ENST00000340096.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.1268_1272delAAAAC",
"hgvs_p": "p.Gln423fs",
"transcript": "ENST00000340096.11",
"protein_id": "ENSP00000344314.6",
"transcript_support_level": 1,
"aa_start": 423,
"aa_end": null,
"aa_length": 1012,
"cds_start": 1268,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 1592,
"cdna_end": null,
"cdna_length": 3612,
"mane_select": "NM_003611.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.1148_1152delAAAAC",
"hgvs_p": "p.Gln383fs",
"transcript": "ENST00000380550.6",
"protein_id": "ENSP00000369923.3",
"transcript_support_level": 1,
"aa_start": 383,
"aa_end": null,
"aa_length": 972,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 1322,
"cdna_end": null,
"cdna_length": 3296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.1268_1272delAAAAC",
"hgvs_p": "p.Gln423fs",
"transcript": "NM_001440947.1",
"protein_id": "NP_001427876.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 975,
"cds_start": 1268,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 1592,
"cdna_end": null,
"cdna_length": 3501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.1148_1152delAAAAC",
"hgvs_p": "p.Gln383fs",
"transcript": "NM_001330209.2",
"protein_id": "NP_001317138.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 972,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 3492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.1148_1152delAAAAC",
"hgvs_p": "p.Gln383fs",
"transcript": "NM_001440948.1",
"protein_id": "NP_001427877.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 935,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 3381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.848_852delAAAAC",
"hgvs_p": "p.Gln283fs",
"transcript": "NM_001330210.2",
"protein_id": "NP_001317139.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 872,
"cds_start": 848,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 1717,
"cdna_end": null,
"cdna_length": 3737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.1289_1293delAAAAC",
"hgvs_p": "p.Gln430fs",
"transcript": "XM_047442583.1",
"protein_id": "XP_047298539.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 1019,
"cds_start": 1289,
"cds_end": null,
"cds_length": 3060,
"cdna_start": 2546,
"cdna_end": null,
"cdna_length": 4566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.1289_1293delAAAAC",
"hgvs_p": "p.Gln430fs",
"transcript": "XM_047442584.1",
"protein_id": "XP_047298540.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 1006,
"cds_start": 1289,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 2546,
"cdna_end": null,
"cdna_length": 8328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.1289_1293delAAAAC",
"hgvs_p": "p.Gln430fs",
"transcript": "XM_047442585.1",
"protein_id": "XP_047298541.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 982,
"cds_start": 1289,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 2546,
"cdna_end": null,
"cdna_length": 4455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.1169_1173delAAAAC",
"hgvs_p": "p.Gln390fs",
"transcript": "XM_047442586.1",
"protein_id": "XP_047298542.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 979,
"cds_start": 1169,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 2426,
"cdna_end": null,
"cdna_length": 4446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.1289_1293delAAAAC",
"hgvs_p": "p.Gln430fs",
"transcript": "XM_047442588.1",
"protein_id": "XP_047298544.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 969,
"cds_start": 1289,
"cds_end": null,
"cds_length": 2910,
"cdna_start": 2546,
"cdna_end": null,
"cdna_length": 8217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.1169_1173delAAAAC",
"hgvs_p": "p.Gln390fs",
"transcript": "XM_047442589.1",
"protein_id": "XP_047298545.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 942,
"cds_start": 1169,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 2426,
"cdna_end": null,
"cdna_length": 4335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.1289_1293delAAAAC",
"hgvs_p": "p.Gln430fs",
"transcript": "XM_047442591.1",
"protein_id": "XP_047298547.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 876,
"cds_start": 1289,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 2546,
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"cdna_length": 3955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.848_852delAAAAC",
"hgvs_p": "p.Gln283fs",
"transcript": "XM_017029909.2",
"protein_id": "XP_016885398.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 872,
"cds_start": 848,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 2026,
"cdna_end": null,
"cdna_length": 4046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.1268_1272delAAAAC",
"hgvs_p": "p.Gln423fs",
"transcript": "XM_047442592.1",
"protein_id": "XP_047298548.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 869,
"cds_start": 1268,
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"cdna_start": 1592,
"cdna_end": null,
"cdna_length": 3001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.1289_1293delAAAAC",
"hgvs_p": "p.Gln430fs",
"transcript": "XM_047442593.1",
"protein_id": "XP_047298549.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 836,
"cds_start": 1289,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 2546,
"cdna_end": null,
"cdna_length": 3844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.1289_1293delAAAAC",
"hgvs_p": "p.Gln430fs",
"transcript": "XM_047442594.1",
"protein_id": "XP_047298550.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 836,
"cds_start": 1289,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 2546,
"cdna_end": null,
"cdna_length": 3906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.1268_1272delAAAAC",
"hgvs_p": "p.Gln423fs",
"transcript": "XM_047442595.1",
"protein_id": "XP_047298551.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 829,
"cds_start": 1268,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 1592,
"cdna_end": null,
"cdna_length": 2890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1148_1152delAAAAC",
"hgvs_p": "p.Gln383fs",
"transcript": "XM_047442596.1",
"protein_id": "XP_047298552.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 829,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 2881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.1148_1152delAAAAC",
"hgvs_p": "p.Gln383fs",
"transcript": "XM_047442597.1",
"protein_id": "XP_047298553.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 789,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 2836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.326_330delAAAAC",
"hgvs_p": "p.Gln109fs",
"transcript": "XM_017029911.2",
"protein_id": "XP_016885400.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 698,
"cds_start": 326,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 2468,
"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"
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],
"exon_rank": 14,
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"transcript": "ENST00000683655.1",
"protein_id": "ENSP00000506770.1",
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"aa_start": null,
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"feature": null
},
{
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"3_prime_UTR_variant"
],
"exon_rank": 11,
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"exon_count": 21,
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"hgvs_c": "n.*1499_*1503delAAAAC",
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"transcript": "ENST00000683713.1",
"protein_id": "ENSP00000507797.1",
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"cdna_length": 5676,
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"biotype": null,
"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
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"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "n.*961_*965delAAAAC",
"hgvs_p": null,
"transcript": "ENST00000684577.1",
"protein_id": "ENSP00000507871.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 3498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"dbsnp": "rs312262871",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.276,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000340096.11",
"gene_symbol": "OFD1",
"hgnc_id": 2567,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "XL,AD,AR",
"hgvs_c": "c.1268_1272delAAAAC",
"hgvs_p": "p.Gln423fs"
}
],
"clinvar_disease": "OFD1-related disorder,Orofaciodigital syndrome I",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "OFD1-related disorder|Orofaciodigital syndrome I",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}