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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: 1-74572067-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=74572067&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 74572067,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001002912.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERICH3",
"gene_hgnc_id": 25346,
"hgvs_c": "c.3643G>T",
"hgvs_p": "p.Ala1215Ser",
"transcript": "NM_001002912.5",
"protein_id": "NP_001002912.4",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1530,
"cds_start": 3643,
"cds_end": null,
"cds_length": 4593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000326665.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001002912.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERICH3",
"gene_hgnc_id": 25346,
"hgvs_c": "c.3643G>T",
"hgvs_p": "p.Ala1215Ser",
"transcript": "ENST00000326665.10",
"protein_id": "ENSP00000322609.5",
"transcript_support_level": 5,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1530,
"cds_start": 3643,
"cds_end": null,
"cds_length": 4593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001002912.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326665.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERICH3",
"gene_hgnc_id": 25346,
"hgvs_c": "n.1785G>T",
"hgvs_p": null,
"transcript": "ENST00000433746.2",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000433746.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERICH3",
"gene_hgnc_id": 25346,
"hgvs_c": "c.3637G>T",
"hgvs_p": "p.Ala1213Ser",
"transcript": "XM_017000275.2",
"protein_id": "XP_016855764.1",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1528,
"cds_start": 3637,
"cds_end": null,
"cds_length": 4587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000275.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERICH3",
"gene_hgnc_id": 25346,
"hgvs_c": "c.1597G>T",
"hgvs_p": "p.Ala533Ser",
"transcript": "XM_017000276.2",
"protein_id": "XP_016855765.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 848,
"cds_start": 1597,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000276.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERICH3",
"gene_hgnc_id": 25346,
"hgvs_c": "c.1555G>T",
"hgvs_p": "p.Ala519Ser",
"transcript": "XM_017000277.2",
"protein_id": "XP_016855766.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 834,
"cds_start": 1555,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000277.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERICH3",
"gene_hgnc_id": 25346,
"hgvs_c": "c.1417G>T",
"hgvs_p": "p.Ala473Ser",
"transcript": "XM_017000278.2",
"protein_id": "XP_016855767.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 788,
"cds_start": 1417,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000278.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERICH3",
"gene_hgnc_id": 25346,
"hgvs_c": "c.1417G>T",
"hgvs_p": "p.Ala473Ser",
"transcript": "XM_017000279.3",
"protein_id": "XP_016855768.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 788,
"cds_start": 1417,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000279.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERICH3",
"gene_hgnc_id": 25346,
"hgvs_c": "c.1417G>T",
"hgvs_p": "p.Ala473Ser",
"transcript": "XM_017000280.3",
"protein_id": "XP_016855769.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 788,
"cds_start": 1417,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000280.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERICH3",
"gene_hgnc_id": 25346,
"hgvs_c": "c.1417G>T",
"hgvs_p": "p.Ala473Ser",
"transcript": "XM_017000282.2",
"protein_id": "XP_016855771.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 788,
"cds_start": 1417,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000282.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERICH3",
"gene_hgnc_id": 25346,
"hgvs_c": "c.1417G>T",
"hgvs_p": "p.Ala473Ser",
"transcript": "XM_017000283.3",
"protein_id": "XP_016855772.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 788,
"cds_start": 1417,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000283.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERICH3",
"gene_hgnc_id": 25346,
"hgvs_c": "c.1417G>T",
"hgvs_p": "p.Ala473Ser",
"transcript": "XM_017000285.3",
"protein_id": "XP_016855774.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 788,
"cds_start": 1417,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000285.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERICH3",
"gene_hgnc_id": 25346,
"hgvs_c": "c.1417G>T",
"hgvs_p": "p.Ala473Ser",
"transcript": "XM_047445349.1",
"protein_id": "XP_047301305.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 788,
"cds_start": 1417,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445349.1"
}
],
"gene_symbol": "ERICH3",
"gene_hgnc_id": 25346,
"dbsnp": "rs780934042",
"frequency_reference_population": 0.0000047884005,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.0000047884,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.049756795167922974,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.008,
"revel_prediction": "Benign",
"alphamissense_score": 0.0831,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.726,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001002912.5",
"gene_symbol": "ERICH3",
"hgnc_id": 25346,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3643G>T",
"hgvs_p": "p.Ala1215Ser"
}
],
"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
}