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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: 3-40044174-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=40044174&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 40044174,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015460.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.235C>A",
"hgvs_p": "p.Arg79Ser",
"transcript": "NM_015460.4",
"protein_id": "NP_056275.2",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 859,
"cds_start": 235,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000302541.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015460.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.235C>A",
"hgvs_p": "p.Arg79Ser",
"transcript": "ENST00000302541.11",
"protein_id": "ENSP00000301972.6",
"transcript_support_level": 1,
"aa_start": 79,
"aa_end": null,
"aa_length": 859,
"cds_start": 235,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015460.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302541.11"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.235C>A",
"hgvs_p": "p.Arg79Ser",
"transcript": "ENST00000444716.5",
"protein_id": "ENSP00000398665.1",
"transcript_support_level": 1,
"aa_start": 79,
"aa_end": null,
"aa_length": 859,
"cds_start": 235,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444716.5"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.105C>A",
"hgvs_p": "p.Ser35Arg",
"transcript": "ENST00000396217.7",
"protein_id": "ENSP00000379519.3",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 770,
"cds_start": 105,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396217.7"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "n.235C>A",
"hgvs_p": null,
"transcript": "ENST00000458292.5",
"protein_id": "ENSP00000413392.1",
"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": "ENST00000458292.5"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "n.235C>A",
"hgvs_p": null,
"transcript": "ENST00000458441.5",
"protein_id": "ENSP00000400916.1",
"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": "ENST00000458441.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "n.494C>A",
"hgvs_p": null,
"transcript": "ENST00000475082.5",
"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": "ENST00000475082.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.235C>A",
"hgvs_p": "p.Arg79Ser",
"transcript": "NM_001284423.2",
"protein_id": "NP_001271352.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 859,
"cds_start": 235,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284423.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.235C>A",
"hgvs_p": "p.Arg79Ser",
"transcript": "ENST00000866103.1",
"protein_id": "ENSP00000536162.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 859,
"cds_start": 235,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866103.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.235C>A",
"hgvs_p": "p.Arg79Ser",
"transcript": "ENST00000866104.1",
"protein_id": "ENSP00000536163.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 859,
"cds_start": 235,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866104.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.235C>A",
"hgvs_p": "p.Arg79Ser",
"transcript": "ENST00000966124.1",
"protein_id": "ENSP00000636183.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 859,
"cds_start": 235,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966124.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.235C>A",
"hgvs_p": "p.Arg79Ser",
"transcript": "ENST00000966123.1",
"protein_id": "ENSP00000636182.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 858,
"cds_start": 235,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966123.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.235C>A",
"hgvs_p": "p.Arg79Ser",
"transcript": "NM_001284424.2",
"protein_id": "NP_001271353.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 794,
"cds_start": 235,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284424.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.235C>A",
"hgvs_p": "p.Arg79Ser",
"transcript": "ENST00000425621.5",
"protein_id": "ENSP00000389323.1",
"transcript_support_level": 2,
"aa_start": 79,
"aa_end": null,
"aa_length": 794,
"cds_start": 235,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425621.5"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.105C>A",
"hgvs_p": "p.Ser35Arg",
"transcript": "NM_001284425.2",
"protein_id": "NP_001271354.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 770,
"cds_start": 105,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284425.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.235C>A",
"hgvs_p": "p.Arg79Ser",
"transcript": "XM_011533575.2",
"protein_id": "XP_011531877.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 859,
"cds_start": 235,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533575.2"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "n.573C>A",
"hgvs_p": null,
"transcript": "NR_104316.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_104316.2"
}
],
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"dbsnp": "rs570449904",
"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": 0.8772115707397461,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.678,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9699,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.25,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.212,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015460.4",
"gene_symbol": "MYRIP",
"hgnc_id": 19156,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.235C>A",
"hgvs_p": "p.Arg79Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}