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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: 4-156763096-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=156763096&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 156763096,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000502773.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFC",
"gene_hgnc_id": 8801,
"hgvs_c": "c.1032A>G",
"hgvs_p": "p.Gly344Gly",
"transcript": "NM_016205.3",
"protein_id": "NP_057289.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 345,
"cds_start": 1032,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1928,
"cdna_end": null,
"cdna_length": 4570,
"mane_select": "ENST00000502773.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFC",
"gene_hgnc_id": 8801,
"hgvs_c": "c.1032A>G",
"hgvs_p": "p.Gly344Gly",
"transcript": "ENST00000502773.6",
"protein_id": "ENSP00000422464.1",
"transcript_support_level": 1,
"aa_start": 344,
"aa_end": null,
"aa_length": 345,
"cds_start": 1032,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1928,
"cdna_end": null,
"cdna_length": 4570,
"mane_select": "NM_016205.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFC",
"gene_hgnc_id": 8801,
"hgvs_c": "n.*940A>G",
"hgvs_p": null,
"transcript": "ENST00000274071.6",
"protein_id": "ENSP00000274071.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFC",
"gene_hgnc_id": 8801,
"hgvs_c": "n.*940A>G",
"hgvs_p": null,
"transcript": "ENST00000274071.6",
"protein_id": "ENSP00000274071.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFC",
"gene_hgnc_id": 8801,
"hgvs_c": "c.843A>G",
"hgvs_p": "p.Gly281Gly",
"transcript": "ENST00000422544.2",
"protein_id": "ENSP00000410048.2",
"transcript_support_level": 5,
"aa_start": 281,
"aa_end": null,
"aa_length": 282,
"cds_start": 843,
"cds_end": null,
"cds_length": 849,
"cdna_start": 843,
"cdna_end": null,
"cdna_length": 849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFC",
"gene_hgnc_id": 8801,
"hgvs_c": "c.999A>G",
"hgvs_p": "p.Gly333Gly",
"transcript": "XM_047415969.1",
"protein_id": "XP_047271925.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 334,
"cds_start": 999,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 1243,
"cdna_end": null,
"cdna_length": 3885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFC",
"gene_hgnc_id": 8801,
"hgvs_c": "c.927A>G",
"hgvs_p": "p.Gly309Gly",
"transcript": "XM_017008455.2",
"protein_id": "XP_016863944.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 310,
"cds_start": 927,
"cds_end": null,
"cds_length": 933,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 3649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFC",
"gene_hgnc_id": 8801,
"hgvs_c": "c.543A>G",
"hgvs_p": "p.Gly181Gly",
"transcript": "XM_047415970.1",
"protein_id": "XP_047271926.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 182,
"cds_start": 543,
"cds_end": null,
"cds_length": 549,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 3710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFC",
"gene_hgnc_id": 8801,
"hgvs_c": "c.543A>G",
"hgvs_p": "p.Gly181Gly",
"transcript": "XM_047415971.1",
"protein_id": "XP_047271927.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 182,
"cds_start": 543,
"cds_end": null,
"cds_length": 549,
"cdna_start": 8896,
"cdna_end": null,
"cdna_length": 11538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFC",
"gene_hgnc_id": 8801,
"hgvs_c": "c.543A>G",
"hgvs_p": "p.Gly181Gly",
"transcript": "XM_047415972.1",
"protein_id": "XP_047271928.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 182,
"cds_start": 543,
"cds_end": null,
"cds_length": 549,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 3824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "PDGFC",
"gene_hgnc_id": 8801,
"hgvs_c": "n.493A>G",
"hgvs_p": null,
"transcript": "ENST00000504672.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFC",
"gene_hgnc_id": 8801,
"hgvs_c": "n.*705A>G",
"hgvs_p": null,
"transcript": "ENST00000506880.5",
"protein_id": "ENSP00000424600.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFC",
"gene_hgnc_id": 8801,
"hgvs_c": "n.1989A>G",
"hgvs_p": null,
"transcript": "NR_036641.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFC",
"gene_hgnc_id": 8801,
"hgvs_c": "n.*705A>G",
"hgvs_p": null,
"transcript": "ENST00000506880.5",
"protein_id": "ENSP00000424600.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PDGFC",
"gene_hgnc_id": 8801,
"dbsnp": "rs3815861",
"frequency_reference_population": 0.16863665,
"hom_count_reference_population": 25106,
"allele_count_reference_population": 264286,
"gnomad_exomes_af": 0.167811,
"gnomad_genomes_af": 0.176323,
"gnomad_exomes_ac": 237480,
"gnomad_genomes_ac": 26806,
"gnomad_exomes_homalt": 22586,
"gnomad_genomes_homalt": 2520,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6200000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.339,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000502773.6",
"gene_symbol": "PDGFC",
"hgnc_id": 8801,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1032A>G",
"hgvs_p": "p.Gly344Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}