← Back to variant description
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: 19-7895624-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=7895624&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 7895624,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_025061.6",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8E",
"gene_hgnc_id": 26272,
"hgvs_c": "c.21C>G",
"hgvs_p": "p.Phe7Leu",
"transcript": "NM_025061.6",
"protein_id": "NP_079337.2",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 796,
"cds_start": 21,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000306708.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025061.6"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8E",
"gene_hgnc_id": 26272,
"hgvs_c": "c.21C>G",
"hgvs_p": "p.Phe7Leu",
"transcript": "ENST00000306708.11",
"protein_id": "ENSP00000306524.5",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 796,
"cds_start": 21,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025061.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306708.11"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8E",
"gene_hgnc_id": 26272,
"hgvs_c": "c.21C>G",
"hgvs_p": "p.Phe7Leu",
"transcript": "NM_001268284.3",
"protein_id": "NP_001255213.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 796,
"cds_start": 21,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001268284.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8E",
"gene_hgnc_id": 26272,
"hgvs_c": "c.21C>G",
"hgvs_p": "p.Phe7Leu",
"transcript": "ENST00000618098.4",
"protein_id": "ENSP00000479953.1",
"transcript_support_level": 3,
"aa_start": 7,
"aa_end": null,
"aa_length": 796,
"cds_start": 21,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618098.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8E",
"gene_hgnc_id": 26272,
"hgvs_c": "c.21C>G",
"hgvs_p": "p.Phe7Leu",
"transcript": "ENST00000907356.1",
"protein_id": "ENSP00000577415.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 796,
"cds_start": 21,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907356.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8E",
"gene_hgnc_id": 26272,
"hgvs_c": "c.21C>G",
"hgvs_p": "p.Phe7Leu",
"transcript": "ENST00000920427.1",
"protein_id": "ENSP00000590486.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 796,
"cds_start": 21,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920427.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8E",
"gene_hgnc_id": 26272,
"hgvs_c": "c.21C>G",
"hgvs_p": "p.Phe7Leu",
"transcript": "ENST00000956217.1",
"protein_id": "ENSP00000626276.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 796,
"cds_start": 21,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956217.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8E",
"gene_hgnc_id": 26272,
"hgvs_c": "c.21C>G",
"hgvs_p": "p.Phe7Leu",
"transcript": "ENST00000956218.1",
"protein_id": "ENSP00000626277.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 796,
"cds_start": 21,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956218.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8E",
"gene_hgnc_id": 26272,
"hgvs_c": "c.21C>G",
"hgvs_p": "p.Phe7Leu",
"transcript": "ENST00000598224.5",
"protein_id": "ENSP00000470302.1",
"transcript_support_level": 3,
"aa_start": 7,
"aa_end": null,
"aa_length": 186,
"cds_start": 21,
"cds_end": null,
"cds_length": 562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000598224.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8E",
"gene_hgnc_id": 26272,
"hgvs_c": "c.21C>G",
"hgvs_p": "p.Phe7Leu",
"transcript": "ENST00000599367.1",
"protein_id": "ENSP00000472491.1",
"transcript_support_level": 2,
"aa_start": 7,
"aa_end": null,
"aa_length": 136,
"cds_start": 21,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599367.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8E",
"gene_hgnc_id": 26272,
"hgvs_c": "c.21C>G",
"hgvs_p": "p.Phe7Leu",
"transcript": "ENST00000593511.1",
"protein_id": "ENSP00000472642.1",
"transcript_support_level": 4,
"aa_start": 7,
"aa_end": null,
"aa_length": 94,
"cds_start": 21,
"cds_end": null,
"cds_length": 286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593511.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8E",
"gene_hgnc_id": 26272,
"hgvs_c": "c.21C>G",
"hgvs_p": "p.Phe7Leu",
"transcript": "XM_011528319.3",
"protein_id": "XP_011526621.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 796,
"cds_start": 21,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528319.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8E",
"gene_hgnc_id": 26272,
"hgvs_c": "c.21C>G",
"hgvs_p": "p.Phe7Leu",
"transcript": "XM_047439461.1",
"protein_id": "XP_047295417.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 796,
"cds_start": 21,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439461.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LRRC8E",
"gene_hgnc_id": 26272,
"hgvs_c": "c.-249-3037C>G",
"hgvs_p": null,
"transcript": "NM_001268285.3",
"protein_id": "NP_001255214.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 667,
"cds_start": null,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001268285.3"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LRRC8E",
"gene_hgnc_id": 26272,
"hgvs_c": "c.-249-3037C>G",
"hgvs_p": null,
"transcript": "ENST00000600345.1",
"protein_id": "ENSP00000473127.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 72,
"cds_start": null,
"cds_end": null,
"cds_length": 221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600345.1"
}
],
"gene_symbol": "LRRC8E",
"gene_hgnc_id": 26272,
"dbsnp": "rs755970278",
"frequency_reference_population": 0.0000068419763,
"hom_count_reference_population": 1,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000684198,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18407490849494934,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.239,
"revel_prediction": "Benign",
"alphamissense_score": 0.8507,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.749,
"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": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_025061.6",
"gene_symbol": "LRRC8E",
"hgnc_id": 26272,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.21C>G",
"hgvs_p": "p.Phe7Leu"
}
],
"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
}