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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-41341586-TC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=41341586&ref=TC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 41341586,
"ref": "TC",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000644876.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.255delC",
"hgvs_p": "p.Phe85fs",
"transcript": "NM_001356.5",
"protein_id": "NP_001347.3",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 662,
"cds_start": 255,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 4635,
"mane_select": "ENST00000644876.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.255delC",
"hgvs_p": "p.Phe85fs",
"transcript": "ENST00000644876.2",
"protein_id": "ENSP00000494040.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 662,
"cds_start": 255,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 4635,
"mane_select": "NM_001356.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.252delC",
"hgvs_p": "p.Phe84fs",
"transcript": "ENST00000399959.7",
"protein_id": "ENSP00000382840.3",
"transcript_support_level": 1,
"aa_start": 84,
"aa_end": null,
"aa_length": 661,
"cds_start": 252,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 4632,
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "n.255delC",
"hgvs_p": null,
"transcript": "ENST00000478993.5",
"protein_id": "ENSP00000478443.1",
"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": 3397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.255delC",
"hgvs_p": "p.Phe85fs",
"transcript": "ENST00000625837.2",
"protein_id": "ENSP00000486306.1",
"transcript_support_level": 5,
"aa_start": 85,
"aa_end": null,
"aa_length": 733,
"cds_start": 255,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 3237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.252delC",
"hgvs_p": "p.Phe84fs",
"transcript": "ENST00000644109.1",
"protein_id": "ENSP00000494952.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 716,
"cds_start": 252,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 4409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.255delC",
"hgvs_p": "p.Phe85fs",
"transcript": "ENST00000629496.3",
"protein_id": "ENSP00000487224.1",
"transcript_support_level": 5,
"aa_start": 85,
"aa_end": null,
"aa_length": 662,
"cds_start": 255,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 734,
"cdna_end": null,
"cdna_length": 5036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.255delC",
"hgvs_p": "p.Phe85fs",
"transcript": "ENST00000644513.1",
"protein_id": "ENSP00000493819.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 662,
"cds_start": 255,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 4245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.255delC",
"hgvs_p": "p.Phe85fs",
"transcript": "NM_001193416.3",
"protein_id": "NP_001180345.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 661,
"cds_start": 255,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 6026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.255delC",
"hgvs_p": "p.Phe85fs",
"transcript": "ENST00000646319.1",
"protein_id": "ENSP00000495377.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 661,
"cds_start": 255,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 333,
"cdna_end": null,
"cdna_length": 4554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.252delC",
"hgvs_p": "p.Phe84fs",
"transcript": "ENST00000644074.1",
"protein_id": "ENSP00000496663.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 660,
"cds_start": 252,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 4620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.213delC",
"hgvs_p": "p.Phe71fs",
"transcript": "ENST00000644073.1",
"protein_id": "ENSP00000493475.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 647,
"cds_start": 213,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 451,
"cdna_end": null,
"cdna_length": 4349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.207delC",
"hgvs_p": "p.Phe69fs",
"transcript": "NM_001193417.3",
"protein_id": "NP_001180346.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 646,
"cds_start": 207,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 5981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.207delC",
"hgvs_p": "p.Phe69fs",
"transcript": "ENST00000457138.7",
"protein_id": "ENSP00000392494.2",
"transcript_support_level": 2,
"aa_start": 69,
"aa_end": null,
"aa_length": 646,
"cds_start": 207,
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"cdna_start": 547,
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"cdna_length": 4786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.255delC",
"hgvs_p": "p.Phe85fs",
"transcript": "ENST00000646122.1",
"protein_id": "ENSP00000496222.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 641,
"cds_start": 255,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 4435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.255delC",
"hgvs_p": "p.Phe85fs",
"transcript": "ENST00000626301.2",
"protein_id": "ENSP00000486443.1",
"transcript_support_level": 5,
"aa_start": 85,
"aa_end": null,
"aa_length": 640,
"cds_start": 255,
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"cdna_start": 1160,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "F",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.255delC",
"hgvs_p": "p.Phe85fs",
"transcript": "ENST00000441189.4",
"protein_id": "ENSP00000414281.3",
"transcript_support_level": 2,
"aa_start": 85,
"aa_end": null,
"aa_length": 629,
"cds_start": 255,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 346,
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"cdna_length": 4122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.138delC",
"hgvs_p": "p.Phe46fs",
"transcript": "ENST00000644677.1",
"protein_id": "ENSP00000496524.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 622,
"cds_start": 138,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 4457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.138delC",
"hgvs_p": "p.Phe46fs",
"transcript": "ENST00000646107.1",
"protein_id": "ENSP00000494518.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 622,
"cds_start": 138,
"cds_end": null,
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"cdna_start": 525,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "F",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.213delC",
"hgvs_p": "p.Phe71fs",
"transcript": "ENST00000615313.5",
"protein_id": "ENSP00000496257.1",
"transcript_support_level": 4,
"aa_start": 71,
"aa_end": null,
"aa_length": 95,
"cds_start": 213,
"cds_end": null,
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"cdna_start": 493,
"cdna_end": null,
"cdna_length": 570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.255delC",
"hgvs_p": "p.Phe85fs",
"transcript": "XM_011543892.3",
"protein_id": "XP_011542194.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 598,
"cds_start": 255,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1200,
"cdna_end": null,
"cdna_length": 6743,
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "n.-304delC",
"hgvs_p": null,
"transcript": "ENST00000542215.5",
"protein_id": "ENSP00000493687.1",
"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": 1592,
"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": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "n.561delC",
"hgvs_p": null,
"transcript": "ENST00000611546.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"phenotype_combined": "not provided|Intellectual disability, X-linked 102",
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}
],
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}