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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: 12-81339194-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=81339194&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 81339194,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003625.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.2534G>A",
"hgvs_p": "p.Arg845Gln",
"transcript": "NM_003625.5",
"protein_id": "NP_003616.2",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 1257,
"cds_start": 2534,
"cds_end": null,
"cds_length": 3774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000549396.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003625.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.2534G>A",
"hgvs_p": "p.Arg845Gln",
"transcript": "ENST00000549396.6",
"protein_id": "ENSP00000450337.1",
"transcript_support_level": 1,
"aa_start": 845,
"aa_end": null,
"aa_length": 1257,
"cds_start": 2534,
"cds_end": null,
"cds_length": 3774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003625.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549396.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.2534G>A",
"hgvs_p": "p.Arg845Gln",
"transcript": "ENST00000548586.5",
"protein_id": "ENSP00000449338.1",
"transcript_support_level": 1,
"aa_start": 845,
"aa_end": null,
"aa_length": 1251,
"cds_start": 2534,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548586.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.2534G>A",
"hgvs_p": "p.Arg845Gln",
"transcript": "ENST00000550584.6",
"protein_id": "ENSP00000449558.2",
"transcript_support_level": 1,
"aa_start": 845,
"aa_end": null,
"aa_length": 1247,
"cds_start": 2534,
"cds_end": null,
"cds_length": 3744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550584.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.2534G>A",
"hgvs_p": "p.Arg845Gln",
"transcript": "ENST00000552948.5",
"protein_id": "ENSP00000447868.1",
"transcript_support_level": 1,
"aa_start": 845,
"aa_end": null,
"aa_length": 1236,
"cds_start": 2534,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552948.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.2534G>A",
"hgvs_p": "p.Arg845Gln",
"transcript": "NM_001220476.2",
"protein_id": "NP_001207405.1",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 1251,
"cds_start": 2534,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001220476.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.2534G>A",
"hgvs_p": "p.Arg845Gln",
"transcript": "NM_001220473.3",
"protein_id": "NP_001207402.1",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 1247,
"cds_start": 2534,
"cds_end": null,
"cds_length": 3744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001220473.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.2534G>A",
"hgvs_p": "p.Arg845Gln",
"transcript": "NM_001220475.2",
"protein_id": "NP_001207404.1",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 1236,
"cds_start": 2534,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001220475.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.2480G>A",
"hgvs_p": "p.Arg827Gln",
"transcript": "NM_001220474.3",
"protein_id": "NP_001207403.1",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 1232,
"cds_start": 2480,
"cds_end": null,
"cds_length": 3699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001220474.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.2480G>A",
"hgvs_p": "p.Arg827Gln",
"transcript": "ENST00000549325.5",
"protein_id": "ENSP00000450298.1",
"transcript_support_level": 5,
"aa_start": 827,
"aa_end": null,
"aa_length": 1232,
"cds_start": 2480,
"cds_end": null,
"cds_length": 3699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549325.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.2312G>A",
"hgvs_p": "p.Arg771Gln",
"transcript": "NM_001220477.2",
"protein_id": "NP_001207406.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 1156,
"cds_start": 2312,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001220477.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.2312G>A",
"hgvs_p": "p.Arg771Gln",
"transcript": "ENST00000407050.8",
"protein_id": "ENSP00000385093.4",
"transcript_support_level": 2,
"aa_start": 771,
"aa_end": null,
"aa_length": 1156,
"cds_start": 2312,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407050.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.2237G>A",
"hgvs_p": "p.Arg746Gln",
"transcript": "NM_001220478.2",
"protein_id": "NP_001207407.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 1152,
"cds_start": 2237,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001220478.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.2237G>A",
"hgvs_p": "p.Arg746Gln",
"transcript": "ENST00000333447.11",
"protein_id": "ENSP00000327416.8",
"transcript_support_level": 5,
"aa_start": 746,
"aa_end": null,
"aa_length": 1152,
"cds_start": 2237,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333447.11"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.2237G>A",
"hgvs_p": "p.Arg746Gln",
"transcript": "ENST00000443686.7",
"protein_id": "ENSP00000388373.3",
"transcript_support_level": 2,
"aa_start": 746,
"aa_end": null,
"aa_length": 1152,
"cds_start": 2237,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443686.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.2075G>A",
"hgvs_p": "p.Arg692Gln",
"transcript": "NM_001282536.1",
"protein_id": "NP_001269465.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2075,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282536.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.2075G>A",
"hgvs_p": "p.Arg692Gln",
"transcript": "ENST00000550359.6",
"protein_id": "ENSP00000447273.2",
"transcript_support_level": 2,
"aa_start": 692,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2075,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550359.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.1235G>A",
"hgvs_p": "p.Arg412Gln",
"transcript": "NM_001220479.3",
"protein_id": "NP_001207408.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 783,
"cds_start": 1235,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001220479.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.1235G>A",
"hgvs_p": "p.Arg412Gln",
"transcript": "ENST00000541570.6",
"protein_id": "ENSP00000438337.2",
"transcript_support_level": 2,
"aa_start": 412,
"aa_end": null,
"aa_length": 783,
"cds_start": 1235,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541570.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62Gln",
"transcript": "NM_001220480.3",
"protein_id": "NP_001207409.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 443,
"cds_start": 185,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001220480.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62Gln",
"transcript": "ENST00000541017.5",
"protein_id": "ENSP00000445532.1",
"transcript_support_level": 2,
"aa_start": 62,
"aa_end": null,
"aa_length": 443,
"cds_start": 185,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541017.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.20G>A",
"hgvs_p": "p.Arg7Gln",
"transcript": "ENST00000551147.1",
"protein_id": "ENSP00000449524.1",
"transcript_support_level": 4,
"aa_start": 7,
"aa_end": null,
"aa_length": 186,
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "n.*16G>A",
"hgvs_p": null,
"transcript": "ENST00000549917.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000549917.1"
}
],
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"dbsnp": "rs377180392",
"frequency_reference_population": 0.000085070715,
"hom_count_reference_population": 0,
"allele_count_reference_population": 136,
"gnomad_exomes_af": 0.0000781182,
"gnomad_genomes_af": 0.000151173,
"gnomad_exomes_ac": 113,
"gnomad_genomes_ac": 23,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.040965914726257324,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.295,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3158,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.734,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_003625.5",
"gene_symbol": "PPFIA2",
"hgnc_id": 9246,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2534G>A",
"hgvs_p": "p.Arg845Gln"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}