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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: 7-150742422-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=150742422&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 150742422,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001199577.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIMAP5",
"gene_hgnc_id": 18005,
"hgvs_c": "c.283G>C",
"hgvs_p": "p.Glu95Gln",
"transcript": "NM_018384.5",
"protein_id": "NP_060854.2",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 307,
"cds_start": 283,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358647.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018384.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIMAP5",
"gene_hgnc_id": 18005,
"hgvs_c": "c.283G>C",
"hgvs_p": "p.Glu95Gln",
"transcript": "ENST00000358647.5",
"protein_id": "ENSP00000351473.3",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 307,
"cds_start": 283,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018384.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358647.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "GIMAP1-GIMAP5",
"gene_hgnc_id": 51257,
"hgvs_c": "c.895G>C",
"hgvs_p": "p.Glu299Gln",
"transcript": "ENST00000611999.4",
"protein_id": "ENSP00000477920.1",
"transcript_support_level": 5,
"aa_start": 299,
"aa_end": null,
"aa_length": 511,
"cds_start": 895,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611999.4"
},
{
"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": "GIMAP5",
"gene_hgnc_id": 18005,
"hgvs_c": "n.3558G>C",
"hgvs_p": null,
"transcript": "ENST00000476324.1",
"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": "retained_intron",
"feature": "ENST00000476324.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "GIMAP1-GIMAP5",
"gene_hgnc_id": 51257,
"hgvs_c": "c.895G>C",
"hgvs_p": "p.Glu299Gln",
"transcript": "NM_001199577.2",
"protein_id": "NP_001186506.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 511,
"cds_start": 895,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199577.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIMAP1-GIMAP5",
"gene_hgnc_id": 51257,
"hgvs_c": "c.511G>C",
"hgvs_p": "p.Glu171Gln",
"transcript": "NM_001303630.2",
"protein_id": "NP_001290559.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 383,
"cds_start": 511,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303630.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "GIMAP5",
"gene_hgnc_id": 18005,
"hgvs_c": "c.283G>C",
"hgvs_p": "p.Glu95Gln",
"transcript": "ENST00000498181.6",
"protein_id": "ENSP00000487840.2",
"transcript_support_level": 4,
"aa_start": 95,
"aa_end": null,
"aa_length": 307,
"cds_start": 283,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000498181.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "GIMAP5",
"gene_hgnc_id": 18005,
"hgvs_c": "c.283G>C",
"hgvs_p": "p.Glu95Gln",
"transcript": "ENST00000887442.1",
"protein_id": "ENSP00000557501.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 307,
"cds_start": 283,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887442.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "GIMAP5",
"gene_hgnc_id": 18005,
"hgvs_c": "c.283G>C",
"hgvs_p": "p.Glu95Gln",
"transcript": "ENST00000887443.1",
"protein_id": "ENSP00000557502.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 307,
"cds_start": 283,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887443.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIMAP5",
"gene_hgnc_id": 18005,
"hgvs_c": "c.283G>C",
"hgvs_p": "p.Glu95Gln",
"transcript": "ENST00000968189.1",
"protein_id": "ENSP00000638248.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 307,
"cds_start": 283,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968189.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "GIMAP5",
"gene_hgnc_id": 18005,
"hgvs_c": "c.283G>C",
"hgvs_p": "p.Glu95Gln",
"transcript": "ENST00000968190.1",
"protein_id": "ENSP00000638249.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 307,
"cds_start": 283,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968190.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIMAP5",
"gene_hgnc_id": 18005,
"hgvs_c": "c.283G>C",
"hgvs_p": "p.Glu95Gln",
"transcript": "ENST00000968191.1",
"protein_id": "ENSP00000638250.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 307,
"cds_start": 283,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968191.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "GIMAP5",
"gene_hgnc_id": 18005,
"hgvs_c": "c.283G>C",
"hgvs_p": "p.Glu95Gln",
"transcript": "ENST00000968192.1",
"protein_id": "ENSP00000638251.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 307,
"cds_start": 283,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968192.1"
},
{
"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": "GIMAP5",
"gene_hgnc_id": 18005,
"hgvs_c": "n.331G>C",
"hgvs_p": null,
"transcript": "ENST00000479556.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000479556.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIMAP5",
"gene_hgnc_id": 18005,
"hgvs_c": "n.558G>C",
"hgvs_p": null,
"transcript": "ENST00000493304.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000493304.2"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GIMAP5",
"gene_hgnc_id": 18005,
"hgvs_c": "n.131+1495G>C",
"hgvs_p": null,
"transcript": "ENST00000466347.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000466347.5"
}
],
"gene_symbol": "GIMAP1-GIMAP5",
"gene_hgnc_id": 51257,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1282593011856079,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.091,
"revel_prediction": "Benign",
"alphamissense_score": 0.1179,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.686,
"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": 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_001199577.2",
"gene_symbol": "GIMAP1-GIMAP5",
"hgnc_id": 51257,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.895G>C",
"hgvs_p": "p.Glu299Gln"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018384.5",
"gene_symbol": "GIMAP5",
"hgnc_id": 18005,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.283G>C",
"hgvs_p": "p.Glu95Gln"
}
],
"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
}