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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: 12-81384074-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=81384074&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 81384074,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000549396.6",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.933T>A",
"hgvs_p": "p.Asp311Glu",
"transcript": "NM_003625.5",
"protein_id": "NP_003616.2",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 1257,
"cds_start": 933,
"cds_end": null,
"cds_length": 3774,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 5674,
"mane_select": "ENST00000549396.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.933T>A",
"hgvs_p": "p.Asp311Glu",
"transcript": "ENST00000549396.6",
"protein_id": "ENSP00000450337.1",
"transcript_support_level": 1,
"aa_start": 311,
"aa_end": null,
"aa_length": 1257,
"cds_start": 933,
"cds_end": null,
"cds_length": 3774,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 5674,
"mane_select": "NM_003625.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.933T>A",
"hgvs_p": "p.Asp311Glu",
"transcript": "ENST00000548586.5",
"protein_id": "ENSP00000449338.1",
"transcript_support_level": 1,
"aa_start": 311,
"aa_end": null,
"aa_length": 1251,
"cds_start": 933,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 1189,
"cdna_end": null,
"cdna_length": 4033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.933T>A",
"hgvs_p": "p.Asp311Glu",
"transcript": "ENST00000550584.6",
"protein_id": "ENSP00000449558.2",
"transcript_support_level": 1,
"aa_start": 311,
"aa_end": null,
"aa_length": 1247,
"cds_start": 933,
"cds_end": null,
"cds_length": 3744,
"cdna_start": 1229,
"cdna_end": null,
"cdna_length": 5405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.933T>A",
"hgvs_p": "p.Asp311Glu",
"transcript": "ENST00000552948.5",
"protein_id": "ENSP00000447868.1",
"transcript_support_level": 1,
"aa_start": 311,
"aa_end": null,
"aa_length": 1236,
"cds_start": 933,
"cds_end": null,
"cds_length": 3711,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 3976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.933T>A",
"hgvs_p": "p.Asp311Glu",
"transcript": "NM_001220476.2",
"protein_id": "NP_001207405.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 1251,
"cds_start": 933,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 1043,
"cdna_end": null,
"cdna_length": 5585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.933T>A",
"hgvs_p": "p.Asp311Glu",
"transcript": "NM_001220473.3",
"protein_id": "NP_001207402.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 1247,
"cds_start": 933,
"cds_end": null,
"cds_length": 3744,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 5659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.933T>A",
"hgvs_p": "p.Asp311Glu",
"transcript": "NM_001220475.2",
"protein_id": "NP_001207404.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 1236,
"cds_start": 933,
"cds_end": null,
"cds_length": 3711,
"cdna_start": 1043,
"cdna_end": null,
"cdna_length": 5540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.879T>A",
"hgvs_p": "p.Asp293Glu",
"transcript": "NM_001220474.3",
"protein_id": "NP_001207403.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 1232,
"cds_start": 879,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 1137,
"cdna_end": null,
"cdna_length": 5614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.879T>A",
"hgvs_p": "p.Asp293Glu",
"transcript": "ENST00000549325.5",
"protein_id": "ENSP00000450298.1",
"transcript_support_level": 5,
"aa_start": 293,
"aa_end": null,
"aa_length": 1232,
"cds_start": 879,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 4727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.711T>A",
"hgvs_p": "p.Asp237Glu",
"transcript": "NM_001220477.2",
"protein_id": "NP_001207406.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 1156,
"cds_start": 711,
"cds_end": null,
"cds_length": 3471,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 5529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.711T>A",
"hgvs_p": "p.Asp237Glu",
"transcript": "ENST00000407050.8",
"protein_id": "ENSP00000385093.4",
"transcript_support_level": 2,
"aa_start": 237,
"aa_end": null,
"aa_length": 1156,
"cds_start": 711,
"cds_end": null,
"cds_length": 3471,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 3903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.636T>A",
"hgvs_p": "p.Asp212Glu",
"transcript": "NM_001220478.2",
"protein_id": "NP_001207407.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 1152,
"cds_start": 636,
"cds_end": null,
"cds_length": 3459,
"cdna_start": 975,
"cdna_end": null,
"cdna_length": 5517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.636T>A",
"hgvs_p": "p.Asp212Glu",
"transcript": "ENST00000333447.11",
"protein_id": "ENSP00000327416.8",
"transcript_support_level": 5,
"aa_start": 212,
"aa_end": null,
"aa_length": 1152,
"cds_start": 636,
"cds_end": null,
"cds_length": 3459,
"cdna_start": 975,
"cdna_end": null,
"cdna_length": 5517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.636T>A",
"hgvs_p": "p.Asp212Glu",
"transcript": "ENST00000443686.7",
"protein_id": "ENSP00000388373.3",
"transcript_support_level": 2,
"aa_start": 212,
"aa_end": null,
"aa_length": 1152,
"cds_start": 636,
"cds_end": null,
"cds_length": 3459,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 3782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.474T>A",
"hgvs_p": "p.Asp158Glu",
"transcript": "NM_001282536.1",
"protein_id": "NP_001269465.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 1104,
"cds_start": 474,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 5298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.474T>A",
"hgvs_p": "p.Asp158Glu",
"transcript": "ENST00000550359.6",
"protein_id": "ENSP00000447273.2",
"transcript_support_level": 2,
"aa_start": 158,
"aa_end": null,
"aa_length": 1104,
"cds_start": 474,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 3808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.384T>A",
"hgvs_p": "p.Asp128Glu",
"transcript": "ENST00000548790.1",
"protein_id": "ENSP00000446555.1",
"transcript_support_level": 5,
"aa_start": 128,
"aa_end": null,
"aa_length": 282,
"cds_start": 384,
"cds_end": null,
"cds_length": 850,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.933T>A",
"hgvs_p": "p.Asp311Glu",
"transcript": "XM_047429770.1",
"protein_id": "XP_047285726.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 1260,
"cds_start": 933,
"cds_end": null,
"cds_length": 3783,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 3994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.933T>A",
"hgvs_p": "p.Asp311Glu",
"transcript": "XM_047429771.1",
"protein_id": "XP_047285727.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 1260,
"cds_start": 933,
"cds_end": null,
"cds_length": 3783,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 4071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.933T>A",
"hgvs_p": "p.Asp311Glu",
"transcript": "XM_047429772.1",
"protein_id": "XP_047285728.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 1257,
"cds_start": 933,
"cds_end": null,
"cds_length": 3774,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 4062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.933T>A",
"hgvs_p": "p.Asp311Glu",
"transcript": "XM_047429773.1",
"protein_id": "XP_047285729.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 1254,
"cds_start": 933,
"cds_end": null,
"cds_length": 3765,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 3976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
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{
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}