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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-111401162-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=111401162&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 111401162,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000636035.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"transcript": "NM_001195553.2",
"protein_id": "NP_001182482.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 366,
"cds_start": 533,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 9086,
"mane_select": "ENST00000636035.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"transcript": "ENST00000636035.2",
"protein_id": "ENSP00000490614.1",
"transcript_support_level": 2,
"aa_start": 178,
"aa_end": null,
"aa_length": 366,
"cds_start": 533,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 9086,
"mane_select": "NM_001195553.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.713G>A",
"hgvs_p": "p.Arg238His",
"transcript": "ENST00000358070.10",
"protein_id": "ENSP00000350776.6",
"transcript_support_level": 1,
"aa_start": 238,
"aa_end": null,
"aa_length": 420,
"cds_start": 713,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 9406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"transcript": "ENST00000356220.8",
"protein_id": "ENSP00000348553.4",
"transcript_support_level": 5,
"aa_start": 178,
"aa_end": null,
"aa_length": 366,
"cds_start": 533,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 3019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"transcript": "ENST00000637453.1",
"protein_id": "ENSP00000490357.1",
"transcript_support_level": 5,
"aa_start": 178,
"aa_end": null,
"aa_length": 366,
"cds_start": 533,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 2275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"transcript": "ENST00000635795.1",
"protein_id": "ENSP00000489635.1",
"transcript_support_level": 1,
"aa_start": 178,
"aa_end": null,
"aa_length": 365,
"cds_start": 533,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 9163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"transcript": "ENST00000637570.1",
"protein_id": "ENSP00000490878.1",
"transcript_support_level": 5,
"aa_start": 178,
"aa_end": null,
"aa_length": 361,
"cds_start": 533,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 6162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"transcript": "ENST00000488120.2",
"protein_id": "ENSP00000419861.1",
"transcript_support_level": 1,
"aa_start": 178,
"aa_end": null,
"aa_length": 360,
"cds_start": 533,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 2476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"transcript": "ENST00000636381.2",
"protein_id": "ENSP00000490068.2",
"transcript_support_level": 1,
"aa_start": 178,
"aa_end": null,
"aa_length": 309,
"cds_start": 533,
"cds_end": null,
"cds_length": 931,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 1115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.776G>A",
"hgvs_p": "p.Arg259His",
"transcript": "NM_000555.3",
"protein_id": "NP_000546.2",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 441,
"cds_start": 776,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 9406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.713G>A",
"hgvs_p": "p.Arg238His",
"transcript": "ENST00000496551.2",
"protein_id": "ENSP00000490448.2",
"transcript_support_level": 2,
"aa_start": 238,
"aa_end": null,
"aa_length": 425,
"cds_start": 713,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 751,
"cdna_end": null,
"cdna_length": 1320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"transcript": "NM_001369370.1",
"protein_id": "NP_001356299.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 366,
"cds_start": 533,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 9159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"transcript": "NM_001369371.1",
"protein_id": "NP_001356300.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 365,
"cds_start": 533,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 9156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"transcript": "NM_178152.3",
"protein_id": "NP_835365.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 365,
"cds_start": 533,
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"cdna_start": 610,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"transcript": "NM_001369372.1",
"protein_id": "NP_001356301.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 361,
"cds_start": 533,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 9071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"transcript": "NM_178151.3",
"protein_id": "NP_835364.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
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"cds_start": 533,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"transcript": "NM_178153.3",
"protein_id": "NP_835366.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 360,
"cds_start": 533,
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"cdna_start": 610,
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"cdna_length": 9068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"transcript": "NM_001410715.1",
"protein_id": "NP_001397644.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 324,
"cds_start": 533,
"cds_end": null,
"cds_length": 975,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 8988,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"transcript": "ENST00000680476.1",
"protein_id": "ENSP00000505501.1",
"transcript_support_level": null,
"aa_start": 178,
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"cdna_start": 555,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"transcript": "NM_001369373.1",
"protein_id": "NP_001356302.1",
"transcript_support_level": null,
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"aa_end": null,
"aa_length": 319,
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"feature": null
},
{
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"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"transcript": "NM_001369374.1",
"protein_id": "NP_001356303.1",
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"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"transcript": "ENST00000371993.7",
"protein_id": "ENSP00000361061.3",
"transcript_support_level": 5,
"aa_start": 178,
"aa_end": null,
"aa_length": 319,
"cds_start": 533,
"cds_end": null,
"cds_length": 960,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 8918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"transcript": "ENST00000468911.2",
"protein_id": "ENSP00000418811.2",
"transcript_support_level": 4,
"aa_start": 178,
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"aa_length": 309,
"cds_start": 533,
"cds_end": null,
"cds_length": 931,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 1110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DCX",
"gene_hgnc_id": 2714,
"dbsnp": "rs587783559",
"frequency_reference_population": 0.0000024806816,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 9.10661e-7,
"gnomad_genomes_af": 0.000017979,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8041646480560303,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.75,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8136,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.39,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.168,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3,PP5_Moderate",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000636035.2",
"gene_symbol": "DCX",
"hgnc_id": 2714,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL,AR",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His"
}
],
"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
}