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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: 5-314429-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=314429&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 314429,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_013232.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6",
"gene_hgnc_id": 8765,
"hgvs_c": "c.490A>G",
"hgvs_p": "p.Ile164Val",
"transcript": "NM_013232.4",
"protein_id": "NP_037364.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 191,
"cds_start": 490,
"cds_end": null,
"cds_length": 576,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 1110,
"mane_select": "ENST00000264933.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013232.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6",
"gene_hgnc_id": 8765,
"hgvs_c": "c.490A>G",
"hgvs_p": "p.Ile164Val",
"transcript": "ENST00000264933.9",
"protein_id": "ENSP00000264933.4",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 191,
"cds_start": 490,
"cds_end": null,
"cds_length": 576,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 1110,
"mane_select": "NM_013232.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264933.9"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6",
"gene_hgnc_id": 8765,
"hgvs_c": "c.484A>G",
"hgvs_p": "p.Ile162Val",
"transcript": "ENST00000507528.5",
"protein_id": "ENSP00000423815.1",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 189,
"cds_start": 484,
"cds_end": null,
"cds_length": 570,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 1088,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507528.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286001",
"gene_hgnc_id": null,
"hgvs_c": "n.*2010A>G",
"hgvs_p": null,
"transcript": "ENST00000651543.1",
"protein_id": "ENSP00000499215.1",
"transcript_support_level": null,
"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": 3665,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651543.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286001",
"gene_hgnc_id": null,
"hgvs_c": "n.*2010A>G",
"hgvs_p": null,
"transcript": "ENST00000651543.1",
"protein_id": "ENSP00000499215.1",
"transcript_support_level": null,
"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": 3665,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651543.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PDCD6-AHRR",
"gene_hgnc_id": 54724,
"hgvs_c": "n.208+10208A>G",
"hgvs_p": null,
"transcript": "ENST00000505113.6",
"protein_id": "ENSP00000424601.2",
"transcript_support_level": 1,
"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": 5820,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000505113.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PDCD6-AHRR",
"gene_hgnc_id": 54724,
"hgvs_c": "n.208+10208A>G",
"hgvs_p": null,
"transcript": "ENST00000675395.1",
"protein_id": "ENSP00000502570.1",
"transcript_support_level": null,
"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": 5874,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000675395.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6",
"gene_hgnc_id": 8765,
"hgvs_c": "c.508A>G",
"hgvs_p": "p.Ile170Val",
"transcript": "ENST00000874098.1",
"protein_id": "ENSP00000544157.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 197,
"cds_start": 508,
"cds_end": null,
"cds_length": 594,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 1127,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874098.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6",
"gene_hgnc_id": 8765,
"hgvs_c": "c.484A>G",
"hgvs_p": "p.Ile162Val",
"transcript": "NM_001267556.2",
"protein_id": "NP_001254485.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 189,
"cds_start": 484,
"cds_end": null,
"cds_length": 570,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 1104,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267556.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6",
"gene_hgnc_id": 8765,
"hgvs_c": "c.286A>G",
"hgvs_p": "p.Ile96Val",
"transcript": "NM_001267557.2",
"protein_id": "NP_001254486.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 123,
"cds_start": 286,
"cds_end": null,
"cds_length": 372,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 906,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267557.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6",
"gene_hgnc_id": 8765,
"hgvs_c": "c.286A>G",
"hgvs_p": "p.Ile96Val",
"transcript": "ENST00000618970.4",
"protein_id": "ENSP00000482332.1",
"transcript_support_level": 3,
"aa_start": 96,
"aa_end": null,
"aa_length": 123,
"cds_start": 286,
"cds_end": null,
"cds_length": 372,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 931,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618970.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6",
"gene_hgnc_id": 8765,
"hgvs_c": "c.280A>G",
"hgvs_p": "p.Ile94Val",
"transcript": "NM_001267558.2",
"protein_id": "NP_001254487.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 121,
"cds_start": 280,
"cds_end": null,
"cds_length": 366,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 1025,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267558.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6",
"gene_hgnc_id": 8765,
"hgvs_c": "c.280A>G",
"hgvs_p": "p.Ile94Val",
"transcript": "ENST00000614778.4",
"protein_id": "ENSP00000485024.1",
"transcript_support_level": 2,
"aa_start": 94,
"aa_end": null,
"aa_length": 121,
"cds_start": 280,
"cds_end": null,
"cds_length": 366,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 1050,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614778.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6",
"gene_hgnc_id": 8765,
"hgvs_c": "c.229A>G",
"hgvs_p": "p.Ile77Val",
"transcript": "ENST00000507473.1",
"protein_id": "ENSP00000425370.1",
"transcript_support_level": 3,
"aa_start": 77,
"aa_end": null,
"aa_length": 104,
"cds_start": 229,
"cds_end": null,
"cds_length": 315,
"cdna_start": 229,
"cdna_end": null,
"cdna_length": 486,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507473.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6",
"gene_hgnc_id": 8765,
"hgvs_c": "c.*11A>G",
"hgvs_p": null,
"transcript": "NM_001267559.2",
"protein_id": "NP_001254488.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 69,
"cds_start": null,
"cds_end": null,
"cds_length": 210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 841,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267559.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6",
"gene_hgnc_id": 8765,
"hgvs_c": "c.*11A>G",
"hgvs_p": null,
"transcript": "ENST00000505221.5",
"protein_id": "ENSP00000422085.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 69,
"cds_start": null,
"cds_end": null,
"cds_length": 210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 672,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505221.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6",
"gene_hgnc_id": 8765,
"hgvs_c": "n.353A>G",
"hgvs_p": null,
"transcript": "ENST00000511482.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 878,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000511482.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6",
"gene_hgnc_id": 8765,
"hgvs_c": "n.3219A>G",
"hgvs_p": null,
"transcript": "ENST00000512466.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 3763,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000512466.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6",
"gene_hgnc_id": 8765,
"hgvs_c": "n.2960A>G",
"hgvs_p": null,
"transcript": "ENST00000513582.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 3500,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000513582.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PDCD6-AHRR",
"gene_hgnc_id": 54724,
"hgvs_c": "n.38+10208A>G",
"hgvs_p": null,
"transcript": "ENST00000512529.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 1912,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000512529.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PDCD6-AHRR",
"gene_hgnc_id": 54724,
"hgvs_c": "n.283+10208A>G",
"hgvs_p": null,
"transcript": "NR_165159.2",
"protein_id": null,
"transcript_support_level": null,
"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": 5892,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_165159.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PDCD6-AHRR",
"gene_hgnc_id": 54724,
"hgvs_c": "n.283+10208A>G",
"hgvs_p": null,
"transcript": "NR_165163.2",
"protein_id": null,
"transcript_support_level": null,
"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": 5838,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_165163.2"
}
],
"gene_symbol": "PDCD6",
"gene_hgnc_id": 8765,
"dbsnp": "rs909500893",
"frequency_reference_population": 0.0000013695853,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136959,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11502760648727417,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.049,
"revel_prediction": "Benign",
"alphamissense_score": 0.1034,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.256,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_013232.4",
"gene_symbol": "PDCD6",
"hgnc_id": 8765,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.490A>G",
"hgvs_p": "p.Ile164Val"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000651543.1",
"gene_symbol": "ENSG00000286001",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*2010A>G",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000675395.1",
"gene_symbol": "PDCD6-AHRR",
"hgnc_id": 54724,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.208+10208A>G",
"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
}