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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: 5-132266473-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=132266473&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "PDLIM4",
"hgnc_id": 16501,
"hgvs_c": "c.255T>C",
"hgvs_p": "p.Gly85Gly",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_003687.4",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "P4HA2",
"hgnc_id": 8547,
"hgvs_c": "c.-19+10869A>G",
"hgvs_p": null,
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000416053.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_score": -13,
"allele_count_reference_population": 980245,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.7,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.699999988079071,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 330,
"aa_ref": "G",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2257,
"cdna_start": 294,
"cds_end": null,
"cds_length": 993,
"cds_start": 255,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_003687.4",
"gene_hgnc_id": 16501,
"gene_symbol": "PDLIM4",
"hgvs_c": "c.255T>C",
"hgvs_p": "p.Gly85Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000253754.8",
"protein_coding": true,
"protein_id": "NP_003678.2",
"strand": true,
"transcript": "NM_003687.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 330,
"aa_ref": "G",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2257,
"cdna_start": 294,
"cds_end": null,
"cds_length": 993,
"cds_start": 255,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000253754.8",
"gene_hgnc_id": 16501,
"gene_symbol": "PDLIM4",
"hgvs_c": "c.255T>C",
"hgvs_p": "p.Gly85Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003687.4",
"protein_coding": true,
"protein_id": "ENSP00000253754.3",
"strand": true,
"transcript": "ENST00000253754.8",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 246,
"aa_ref": "G",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1006,
"cdna_start": 283,
"cds_end": null,
"cds_length": 741,
"cds_start": 255,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000379018.7",
"gene_hgnc_id": 16501,
"gene_symbol": "PDLIM4",
"hgvs_c": "c.255T>C",
"hgvs_p": "p.Gly85Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000368303.3",
"strand": true,
"transcript": "ENST00000379018.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2508,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000471826.1",
"gene_hgnc_id": 8547,
"gene_symbol": "P4HA2",
"hgvs_c": "n.458+10869A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000471826.1",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 364,
"aa_ref": "G",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1277,
"cdna_start": 337,
"cds_end": null,
"cds_length": 1095,
"cds_start": 255,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000889985.1",
"gene_hgnc_id": 16501,
"gene_symbol": "PDLIM4",
"hgvs_c": "c.255T>C",
"hgvs_p": "p.Gly85Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560044.1",
"strand": true,
"transcript": "ENST00000889985.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 343,
"aa_ref": "G",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1190,
"cdna_start": 392,
"cds_end": null,
"cds_length": 1032,
"cds_start": 333,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000947542.1",
"gene_hgnc_id": 16501,
"gene_symbol": "PDLIM4",
"hgvs_c": "c.333T>C",
"hgvs_p": "p.Gly111Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617601.1",
"strand": true,
"transcript": "ENST00000947542.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 317,
"aa_ref": "G",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1100,
"cdna_start": 298,
"cds_end": null,
"cds_length": 954,
"cds_start": 255,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000947543.1",
"gene_hgnc_id": 16501,
"gene_symbol": "PDLIM4",
"hgvs_c": "c.255T>C",
"hgvs_p": "p.Gly85Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617602.1",
"strand": true,
"transcript": "ENST00000947543.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 246,
"aa_ref": "G",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2139,
"cdna_start": 294,
"cds_end": null,
"cds_length": 741,
"cds_start": 255,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001131027.2",
"gene_hgnc_id": 16501,
"gene_symbol": "PDLIM4",
"hgvs_c": "c.255T>C",
"hgvs_p": "p.Gly85Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001124499.1",
"strand": true,
"transcript": "NM_001131027.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 236,
"aa_ref": "G",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 875,
"cdna_start": 316,
"cds_end": null,
"cds_length": 711,
"cds_start": 255,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000924881.1",
"gene_hgnc_id": 16501,
"gene_symbol": "PDLIM4",
"hgvs_c": "c.255T>C",
"hgvs_p": "p.Gly85Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594940.1",
"strand": true,
"transcript": "ENST00000924881.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 120,
"aa_ref": "G",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 538,
"cdna_start": 253,
"cds_end": null,
"cds_length": 363,
"cds_start": 78,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000418373.1",
"gene_hgnc_id": 16501,
"gene_symbol": "PDLIM4",
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Gly26Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411753.1",
"strand": true,
"transcript": "ENST00000418373.1",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 438,
"aa_ref": "G",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2581,
"cdna_start": 294,
"cds_end": null,
"cds_length": 1317,
"cds_start": 255,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047417848.1",
"gene_hgnc_id": 16501,
"gene_symbol": "PDLIM4",
"hgvs_c": "c.255T>C",
"hgvs_p": "p.Gly85Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273804.1",
"strand": true,
"transcript": "XM_047417848.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 283,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1002,
"cdna_start": null,
"cds_end": null,
"cds_length": 852,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889986.1",
"gene_hgnc_id": 16501,
"gene_symbol": "PDLIM4",
"hgvs_c": "c.187-4442T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560045.1",
"strand": true,
"transcript": "ENST00000889986.1",
"transcript_support_level": null
},
{
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"aa_length": 252,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2075,
"cdna_start": null,
"cds_end": null,
"cds_length": 759,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889983.1",
"gene_hgnc_id": 16501,
"gene_symbol": "PDLIM4",
"hgvs_c": "c.94-4442T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560042.1",
"strand": true,
"transcript": "ENST00000889983.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 243,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1993,
"cdna_start": null,
"cds_end": null,
"cds_length": 732,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889984.1",
"gene_hgnc_id": 16501,
"gene_symbol": "PDLIM4",
"hgvs_c": "c.245+3713T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560043.1",
"strand": true,
"transcript": "ENST00000889984.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 724,
"cdna_start": null,
"cds_end": null,
"cds_length": 708,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000431054.5",
"gene_hgnc_id": 8547,
"gene_symbol": "P4HA2",
"hgvs_c": "c.78+28705A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391257.1",
"strand": false,
"transcript": "ENST00000431054.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 183,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 866,
"cdna_start": null,
"cds_end": null,
"cds_length": 552,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000439698.5",
"gene_hgnc_id": 8547,
"gene_symbol": "P4HA2",
"hgvs_c": "c.-19+10869A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405406.1",
"strand": false,
"transcript": "ENST00000439698.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
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"aa_length": 100,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000416053.5",
"gene_hgnc_id": 8547,
"gene_symbol": "P4HA2",
"hgvs_c": "c.-19+10869A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000394953.1",
"strand": false,
"transcript": "ENST00000416053.5",
"transcript_support_level": 3
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2347,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047417850.1",
"gene_hgnc_id": 16501,
"gene_symbol": "PDLIM4",
"hgvs_c": "c.94-4442T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273806.1",
"strand": true,
"transcript": "XM_047417850.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2023,
"cdna_start": null,
"cds_end": null,
"cds_length": 759,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017010002.2",
"gene_hgnc_id": 16501,
"gene_symbol": "PDLIM4",
"hgvs_c": "c.94-4442T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865491.1",
"strand": true,
"transcript": "XM_017010002.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 168,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1905,
"cdna_start": null,
"cds_end": null,
"cds_length": 507,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047417851.1",
"gene_hgnc_id": 16501,
"gene_symbol": "PDLIM4",
"hgvs_c": "c.94-4442T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273807.1",
"strand": true,
"transcript": "XM_047417851.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 582,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000463615.1",
"gene_hgnc_id": 16501,
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