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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: 4-75012704-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=75012704&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 75012704,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015393.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARM1",
"gene_hgnc_id": 24536,
"hgvs_c": "c.323G>C",
"hgvs_p": "p.Gly108Ala",
"transcript": "NM_015393.4",
"protein_id": "NP_056208.2",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 310,
"cds_start": 323,
"cds_end": null,
"cds_length": 933,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 5011,
"mane_select": "ENST00000307428.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015393.4"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARM1",
"gene_hgnc_id": 24536,
"hgvs_c": "c.323G>C",
"hgvs_p": "p.Gly108Ala",
"transcript": "ENST00000307428.7",
"protein_id": "ENSP00000370224.3",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 310,
"cds_start": 323,
"cds_end": null,
"cds_length": 933,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 5011,
"mane_select": "NM_015393.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307428.7"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARM1",
"gene_hgnc_id": 24536,
"hgvs_c": "c.512G>C",
"hgvs_p": "p.Gly171Ala",
"transcript": "ENST00000946485.1",
"protein_id": "ENSP00000616544.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 373,
"cds_start": 512,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 2559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946485.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARM1",
"gene_hgnc_id": 24536,
"hgvs_c": "c.428G>C",
"hgvs_p": "p.Gly143Ala",
"transcript": "ENST00000856900.1",
"protein_id": "ENSP00000526959.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 345,
"cds_start": 428,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 5193,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856900.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARM1",
"gene_hgnc_id": 24536,
"hgvs_c": "c.347G>C",
"hgvs_p": "p.Gly116Ala",
"transcript": "ENST00000946486.1",
"protein_id": "ENSP00000616545.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 318,
"cds_start": 347,
"cds_end": null,
"cds_length": 957,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 2205,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946486.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARM1",
"gene_hgnc_id": 24536,
"hgvs_c": "c.428G>C",
"hgvs_p": "p.Gly143Ala",
"transcript": "XM_011531833.1",
"protein_id": "XP_011530135.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 345,
"cds_start": 428,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 5116,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531833.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PARM1",
"gene_hgnc_id": 24536,
"hgvs_c": "c.385+43G>C",
"hgvs_p": null,
"transcript": "ENST00000946487.1",
"protein_id": "ENSP00000616546.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 182,
"cds_start": null,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1775,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946487.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PARM1",
"gene_hgnc_id": 24536,
"hgvs_c": "c.280+43G>C",
"hgvs_p": null,
"transcript": "ENST00000856902.1",
"protein_id": "ENSP00000526961.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": null,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4558,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856902.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PARM1",
"gene_hgnc_id": 24536,
"hgvs_c": "c.149-21179G>C",
"hgvs_p": null,
"transcript": "ENST00000856901.1",
"protein_id": "ENSP00000526960.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 103,
"cds_start": null,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856901.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PARM1",
"gene_hgnc_id": 24536,
"hgvs_c": "c.44-21179G>C",
"hgvs_p": null,
"transcript": "ENST00000513238.5",
"protein_id": "ENSP00000424276.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 68,
"cds_start": null,
"cds_end": null,
"cds_length": 207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513238.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000248165",
"gene_hgnc_id": null,
"hgvs_c": "n.52-13533C>G",
"hgvs_p": null,
"transcript": "ENST00000513770.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 590,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000513770.1"
}
],
"gene_symbol": "PARM1",
"gene_hgnc_id": 24536,
"dbsnp": "rs35489484",
"frequency_reference_population": 0.007824467,
"hom_count_reference_population": 89,
"allele_count_reference_population": 12628,
"gnomad_exomes_af": 0.00801186,
"gnomad_genomes_af": 0.00602481,
"gnomad_exomes_ac": 11711,
"gnomad_genomes_ac": 917,
"gnomad_exomes_homalt": 86,
"gnomad_genomes_homalt": 3,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0029345154762268066,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.016,
"revel_prediction": "Benign",
"alphamissense_score": 0.0868,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.3,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_015393.4",
"gene_symbol": "PARM1",
"hgnc_id": 24536,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.323G>C",
"hgvs_p": "p.Gly108Ala"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000513770.1",
"gene_symbol": "ENSG00000248165",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.52-13533C>G",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}