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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: 3-50252447-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=50252447&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 50252447,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002070.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAI2",
"gene_hgnc_id": 4385,
"hgvs_c": "c.212C>A",
"hgvs_p": "p.Ala71Glu",
"transcript": "NM_002070.4",
"protein_id": "NP_002061.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 355,
"cds_start": 212,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000313601.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002070.4"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAI2",
"gene_hgnc_id": 4385,
"hgvs_c": "c.212C>A",
"hgvs_p": "p.Ala71Glu",
"transcript": "ENST00000313601.11",
"protein_id": "ENSP00000312999.6",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 355,
"cds_start": 212,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002070.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313601.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAI2",
"gene_hgnc_id": 4385,
"hgvs_c": "n.288C>A",
"hgvs_p": null,
"transcript": "ENST00000446079.5",
"protein_id": "ENSP00000406065.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000446079.5"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAI2",
"gene_hgnc_id": 4385,
"hgvs_c": "c.212C>A",
"hgvs_p": "p.Ala71Glu",
"transcript": "ENST00000869096.1",
"protein_id": "ENSP00000539155.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 355,
"cds_start": 212,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869096.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAI2",
"gene_hgnc_id": 4385,
"hgvs_c": "c.164C>A",
"hgvs_p": "p.Ala55Glu",
"transcript": "NM_001282619.2",
"protein_id": "NP_001269548.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 339,
"cds_start": 164,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282619.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAI2",
"gene_hgnc_id": 4385,
"hgvs_c": "c.164C>A",
"hgvs_p": "p.Ala55Glu",
"transcript": "NM_001282620.2",
"protein_id": "NP_001269549.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 339,
"cds_start": 164,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282620.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAI2",
"gene_hgnc_id": 4385,
"hgvs_c": "c.164C>A",
"hgvs_p": "p.Ala55Glu",
"transcript": "ENST00000422163.5",
"protein_id": "ENSP00000406871.1",
"transcript_support_level": 2,
"aa_start": 55,
"aa_end": null,
"aa_length": 339,
"cds_start": 164,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422163.5"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAI2",
"gene_hgnc_id": 4385,
"hgvs_c": "c.101C>A",
"hgvs_p": "p.Ala34Glu",
"transcript": "NM_001166425.2",
"protein_id": "NP_001159897.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 318,
"cds_start": 101,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166425.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAI2",
"gene_hgnc_id": 4385,
"hgvs_c": "c.101C>A",
"hgvs_p": "p.Ala34Glu",
"transcript": "ENST00000451956.1",
"protein_id": "ENSP00000406369.1",
"transcript_support_level": 2,
"aa_start": 34,
"aa_end": null,
"aa_length": 318,
"cds_start": 101,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451956.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAI2",
"gene_hgnc_id": 4385,
"hgvs_c": "c.56C>A",
"hgvs_p": "p.Ala19Glu",
"transcript": "NM_001282617.2",
"protein_id": "NP_001269546.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 303,
"cds_start": 56,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282617.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAI2",
"gene_hgnc_id": 4385,
"hgvs_c": "c.56C>A",
"hgvs_p": "p.Ala19Glu",
"transcript": "ENST00000266027.9",
"protein_id": "ENSP00000266027.6",
"transcript_support_level": 2,
"aa_start": 19,
"aa_end": null,
"aa_length": 303,
"cds_start": 56,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000266027.9"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAI2",
"gene_hgnc_id": 4385,
"hgvs_c": "c.56C>A",
"hgvs_p": "p.Ala19Glu",
"transcript": "ENST00000440628.5",
"protein_id": "ENSP00000395736.1",
"transcript_support_level": 5,
"aa_start": 19,
"aa_end": null,
"aa_length": 303,
"cds_start": 56,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440628.5"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAI2",
"gene_hgnc_id": 4385,
"hgvs_c": "c.212C>A",
"hgvs_p": "p.Ala71Glu",
"transcript": "XM_047447979.1",
"protein_id": "XP_047303935.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 355,
"cds_start": 212,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447979.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAI2",
"gene_hgnc_id": 4385,
"hgvs_c": "c.169C>A",
"hgvs_p": "p.Arg57Arg",
"transcript": "ENST00000918111.1",
"protein_id": "ENSP00000588170.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 287,
"cds_start": 169,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918111.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAI2",
"gene_hgnc_id": 4385,
"hgvs_c": "c.-32C>A",
"hgvs_p": null,
"transcript": "NM_001282618.2",
"protein_id": "NP_001269547.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 274,
"cds_start": null,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282618.2"
},
{
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GNAI2",
"gene_hgnc_id": 4385,
"hgvs_c": "c.161+305C>A",
"hgvs_p": null,
"transcript": "ENST00000918110.1",
"protein_id": "ENSP00000588169.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 254,
"cds_start": null,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918110.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAI2",
"gene_hgnc_id": 4385,
"hgvs_c": "n.169C>A",
"hgvs_p": null,
"transcript": "ENST00000441156.5",
"protein_id": "ENSP00000394321.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000441156.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAI2",
"gene_hgnc_id": 4385,
"hgvs_c": "n.1039C>A",
"hgvs_p": null,
"transcript": "ENST00000490122.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000490122.5"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAI2",
"gene_hgnc_id": 4385,
"hgvs_c": "n.2028C>A",
"hgvs_p": null,
"transcript": "ENST00000491100.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000491100.5"
}
],
"gene_symbol": "GNAI2",
"gene_hgnc_id": 4385,
"dbsnp": "rs138213627",
"frequency_reference_population": 0.0000074390277,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.0000075295,
"gnomad_genomes_af": 0.00000657056,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7814152836799622,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.631,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7512,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.37,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,PP3",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002070.4",
"gene_symbol": "GNAI2",
"hgnc_id": 4385,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.212C>A",
"hgvs_p": "p.Ala71Glu"
}
],
"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
}