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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-41345206-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=41345206&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 41345206,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000644876.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.1052G>C",
"hgvs_p": "p.Arg351Pro",
"transcript": "NM_001356.5",
"protein_id": "NP_001347.3",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 662,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 4635,
"mane_select": "ENST00000644876.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.1052G>C",
"hgvs_p": "p.Arg351Pro",
"transcript": "ENST00000644876.2",
"protein_id": "ENSP00000494040.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 662,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 4635,
"mane_select": "NM_001356.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.1049G>C",
"hgvs_p": "p.Arg350Pro",
"transcript": "ENST00000399959.7",
"protein_id": "ENSP00000382840.3",
"transcript_support_level": 1,
"aa_start": 350,
"aa_end": null,
"aa_length": 661,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 1140,
"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": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "n.1052G>C",
"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": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.1052G>C",
"hgvs_p": "p.Arg351Pro",
"transcript": "ENST00000625837.2",
"protein_id": "ENSP00000486306.1",
"transcript_support_level": 5,
"aa_start": 351,
"aa_end": null,
"aa_length": 733,
"cds_start": 1052,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 1957,
"cdna_end": null,
"cdna_length": 3237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.1214G>C",
"hgvs_p": "p.Arg405Pro",
"transcript": "ENST00000644109.1",
"protein_id": "ENSP00000494952.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 716,
"cds_start": 1214,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 1305,
"cdna_end": null,
"cdna_length": 4409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.1052G>C",
"hgvs_p": "p.Arg351Pro",
"transcript": "ENST00000629496.3",
"protein_id": "ENSP00000487224.1",
"transcript_support_level": 5,
"aa_start": 351,
"aa_end": null,
"aa_length": 662,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 5036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.1052G>C",
"hgvs_p": "p.Arg351Pro",
"transcript": "ENST00000644513.1",
"protein_id": "ENSP00000493819.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 662,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 4245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.1052G>C",
"hgvs_p": "p.Arg351Pro",
"transcript": "NM_001193416.3",
"protein_id": "NP_001180345.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 661,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 6026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.1052G>C",
"hgvs_p": "p.Arg351Pro",
"transcript": "ENST00000646319.1",
"protein_id": "ENSP00000495377.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 661,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 1130,
"cdna_end": null,
"cdna_length": 4554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.1049G>C",
"hgvs_p": "p.Arg350Pro",
"transcript": "ENST00000644074.1",
"protein_id": "ENSP00000496663.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 660,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1140,
"cdna_end": null,
"cdna_length": 4620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.1010G>C",
"hgvs_p": "p.Arg337Pro",
"transcript": "ENST00000644073.1",
"protein_id": "ENSP00000493475.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 647,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1248,
"cdna_end": null,
"cdna_length": 4349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.1004G>C",
"hgvs_p": "p.Arg335Pro",
"transcript": "NM_001193417.3",
"protein_id": "NP_001180346.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 646,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 5981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.1004G>C",
"hgvs_p": "p.Arg335Pro",
"transcript": "ENST00000457138.7",
"protein_id": "ENSP00000392494.2",
"transcript_support_level": 2,
"aa_start": 335,
"aa_end": null,
"aa_length": 646,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 1344,
"cdna_end": null,
"cdna_length": 4786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.1052G>C",
"hgvs_p": "p.Arg351Pro",
"transcript": "ENST00000646122.1",
"protein_id": "ENSP00000496222.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 641,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 4435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.1052G>C",
"hgvs_p": "p.Arg351Pro",
"transcript": "ENST00000626301.2",
"protein_id": "ENSP00000486443.1",
"transcript_support_level": 5,
"aa_start": 351,
"aa_end": null,
"aa_length": 640,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 1957,
"cdna_end": null,
"cdna_length": 3013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.953G>C",
"hgvs_p": "p.Arg318Pro",
"transcript": "ENST00000441189.4",
"protein_id": "ENSP00000414281.3",
"transcript_support_level": 2,
"aa_start": 318,
"aa_end": null,
"aa_length": 629,
"cds_start": 953,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 1044,
"cdna_end": null,
"cdna_length": 4122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.935G>C",
"hgvs_p": "p.Arg312Pro",
"transcript": "ENST00000644677.1",
"protein_id": "ENSP00000496524.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 622,
"cds_start": 935,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1392,
"cdna_end": null,
"cdna_length": 4457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.935G>C",
"hgvs_p": "p.Arg312Pro",
"transcript": "ENST00000646107.1",
"protein_id": "ENSP00000494518.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 622,
"cds_start": 935,
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"cdna_start": 1322,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.494G>C",
"hgvs_p": "p.Arg165Pro",
"transcript": "ENST00000642322.3",
"protein_id": "ENSP00000496052.3",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 476,
"cds_start": 494,
"cds_end": null,
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"cdna_start": 1194,
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"cdna_length": 4303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.494G>C",
"hgvs_p": "p.Arg165Pro",
"transcript": "ENST00000642424.1",
"protein_id": "ENSP00000496356.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 476,
"cds_start": 494,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 2376,
"cdna_end": null,
"cdna_length": 5789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.494G>C",
"hgvs_p": "p.Arg165Pro",
"transcript": "ENST00000646627.1",
"protein_id": "ENSP00000493795.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 476,
"cds_start": 494,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1093,
"cdna_end": null,
"cdna_length": 2469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX3X",
"gene_hgnc_id": 2745,
"hgvs_c": "c.494G>C",
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{
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"PM5",
"PP2",
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"clinvar_disease": "not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}