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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: 12-81347548-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=81347548&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 81347548,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003625.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.2217G>A",
"hgvs_p": "p.Met739Ile",
"transcript": "NM_003625.5",
"protein_id": "NP_003616.2",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 1257,
"cds_start": 2217,
"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": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.2217G>A",
"hgvs_p": "p.Met739Ile",
"transcript": "ENST00000549396.6",
"protein_id": "ENSP00000450337.1",
"transcript_support_level": 1,
"aa_start": 739,
"aa_end": null,
"aa_length": 1257,
"cds_start": 2217,
"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": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.2217G>A",
"hgvs_p": "p.Met739Ile",
"transcript": "ENST00000548586.5",
"protein_id": "ENSP00000449338.1",
"transcript_support_level": 1,
"aa_start": 739,
"aa_end": null,
"aa_length": 1251,
"cds_start": 2217,
"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": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.2217G>A",
"hgvs_p": "p.Met739Ile",
"transcript": "ENST00000550584.6",
"protein_id": "ENSP00000449558.2",
"transcript_support_level": 1,
"aa_start": 739,
"aa_end": null,
"aa_length": 1247,
"cds_start": 2217,
"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": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.2217G>A",
"hgvs_p": "p.Met739Ile",
"transcript": "ENST00000552948.5",
"protein_id": "ENSP00000447868.1",
"transcript_support_level": 1,
"aa_start": 739,
"aa_end": null,
"aa_length": 1236,
"cds_start": 2217,
"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": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.2217G>A",
"hgvs_p": "p.Met739Ile",
"transcript": "NM_001220476.2",
"protein_id": "NP_001207405.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 1251,
"cds_start": 2217,
"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": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.2217G>A",
"hgvs_p": "p.Met739Ile",
"transcript": "NM_001220473.3",
"protein_id": "NP_001207402.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 1247,
"cds_start": 2217,
"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": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.2217G>A",
"hgvs_p": "p.Met739Ile",
"transcript": "NM_001220475.2",
"protein_id": "NP_001207404.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 1236,
"cds_start": 2217,
"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": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.2163G>A",
"hgvs_p": "p.Met721Ile",
"transcript": "NM_001220474.3",
"protein_id": "NP_001207403.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 1232,
"cds_start": 2163,
"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": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.2163G>A",
"hgvs_p": "p.Met721Ile",
"transcript": "ENST00000549325.5",
"protein_id": "ENSP00000450298.1",
"transcript_support_level": 5,
"aa_start": 721,
"aa_end": null,
"aa_length": 1232,
"cds_start": 2163,
"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": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.1995G>A",
"hgvs_p": "p.Met665Ile",
"transcript": "NM_001220477.2",
"protein_id": "NP_001207406.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 1156,
"cds_start": 1995,
"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": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.1995G>A",
"hgvs_p": "p.Met665Ile",
"transcript": "ENST00000407050.8",
"protein_id": "ENSP00000385093.4",
"transcript_support_level": 2,
"aa_start": 665,
"aa_end": null,
"aa_length": 1156,
"cds_start": 1995,
"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": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.1920G>A",
"hgvs_p": "p.Met640Ile",
"transcript": "NM_001220478.2",
"protein_id": "NP_001207407.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 1152,
"cds_start": 1920,
"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": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.1920G>A",
"hgvs_p": "p.Met640Ile",
"transcript": "ENST00000333447.11",
"protein_id": "ENSP00000327416.8",
"transcript_support_level": 5,
"aa_start": 640,
"aa_end": null,
"aa_length": 1152,
"cds_start": 1920,
"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": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.1920G>A",
"hgvs_p": "p.Met640Ile",
"transcript": "ENST00000443686.7",
"protein_id": "ENSP00000388373.3",
"transcript_support_level": 2,
"aa_start": 640,
"aa_end": null,
"aa_length": 1152,
"cds_start": 1920,
"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": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.1758G>A",
"hgvs_p": "p.Met586Ile",
"transcript": "NM_001282536.1",
"protein_id": "NP_001269465.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 1104,
"cds_start": 1758,
"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": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.1758G>A",
"hgvs_p": "p.Met586Ile",
"transcript": "ENST00000550359.6",
"protein_id": "ENSP00000447273.2",
"transcript_support_level": 2,
"aa_start": 586,
"aa_end": null,
"aa_length": 1104,
"cds_start": 1758,
"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": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.918G>A",
"hgvs_p": "p.Met306Ile",
"transcript": "NM_001220479.3",
"protein_id": "NP_001207408.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 783,
"cds_start": 918,
"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": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.918G>A",
"hgvs_p": "p.Met306Ile",
"transcript": "ENST00000541570.6",
"protein_id": "ENSP00000438337.2",
"transcript_support_level": 2,
"aa_start": 306,
"aa_end": null,
"aa_length": 783,
"cds_start": 918,
"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": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.2217G>A",
"hgvs_p": "p.Met739Ile",
"transcript": "XM_047429770.1",
"protein_id": "XP_047285726.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 1260,
"cds_start": 2217,
"cds_end": null,
"cds_length": 3783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429770.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.2217G>A",
"hgvs_p": "p.Met739Ile",
"transcript": "XM_047429771.1",
"protein_id": "XP_047285727.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 1260,
"cds_start": 2217,
"cds_end": null,
"cds_length": 3783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429771.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.2217G>A",
"hgvs_p": "p.Met739Ile",
"transcript": "XM_047429772.1",
"protein_id": "XP_047285728.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 1257,
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"gnomad_exomes_af": 6.87206e-7,
"gnomad_genomes_af": 0.0000131442,
"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": 0.2840806841850281,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.106,
"revel_prediction": "Benign",
"alphamissense_score": 0.5361,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.063,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003625.5",
"gene_symbol": "PPFIA2",
"hgnc_id": 9246,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2217G>A",
"hgvs_p": "p.Met739Ile"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "XR_945148.3",
"gene_symbol": "LOC105369872",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.149-2742C>T",
"hgvs_p": null
}
],
"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
}