← 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: 1-155904365-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155904365&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 155904365,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000368323.8",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIT1",
"gene_hgnc_id": 10023,
"hgvs_c": "c.375C>T",
"hgvs_p": "p.Asp125Asp",
"transcript": "NM_006912.6",
"protein_id": "NP_008843.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 219,
"cds_start": 375,
"cds_end": null,
"cds_length": 660,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 3390,
"mane_select": "ENST00000368323.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIT1",
"gene_hgnc_id": 10023,
"hgvs_c": "c.375C>T",
"hgvs_p": "p.Asp125Asp",
"transcript": "ENST00000368323.8",
"protein_id": "ENSP00000357306.3",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 219,
"cds_start": 375,
"cds_end": null,
"cds_length": 660,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 3390,
"mane_select": "NM_006912.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIT1",
"gene_hgnc_id": 10023,
"hgvs_c": "c.375C>T",
"hgvs_p": "p.Asp125Asp",
"transcript": "ENST00000609492.1",
"protein_id": "ENSP00000476612.1",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 150,
"cds_start": 375,
"cds_end": null,
"cds_length": 454,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIT1",
"gene_hgnc_id": 10023,
"hgvs_c": "c.426C>T",
"hgvs_p": "p.Asp142Asp",
"transcript": "NM_001256821.2",
"protein_id": "NP_001243750.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 236,
"cds_start": 426,
"cds_end": null,
"cds_length": 711,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 3324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIT1",
"gene_hgnc_id": 10023,
"hgvs_c": "c.426C>T",
"hgvs_p": "p.Asp142Asp",
"transcript": "ENST00000368322.7",
"protein_id": "ENSP00000357305.3",
"transcript_support_level": 3,
"aa_start": 142,
"aa_end": null,
"aa_length": 236,
"cds_start": 426,
"cds_end": null,
"cds_length": 711,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIT1",
"gene_hgnc_id": 10023,
"hgvs_c": "c.378C>T",
"hgvs_p": "p.Asp126Asp",
"transcript": "ENST00000651853.1",
"protein_id": "ENSP00000498685.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 220,
"cds_start": 378,
"cds_end": null,
"cds_length": 663,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 2419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIT1",
"gene_hgnc_id": 10023,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Asp89Asp",
"transcript": "NM_001256820.2",
"protein_id": "NP_001243749.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 183,
"cds_start": 267,
"cds_end": null,
"cds_length": 552,
"cdna_start": 376,
"cdna_end": null,
"cdna_length": 3241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIT1",
"gene_hgnc_id": 10023,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Asp89Asp",
"transcript": "ENST00000539040.6",
"protein_id": "ENSP00000441950.1",
"transcript_support_level": 2,
"aa_start": 89,
"aa_end": null,
"aa_length": 183,
"cds_start": 267,
"cds_end": null,
"cds_length": 552,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 2139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIT1",
"gene_hgnc_id": 10023,
"hgvs_c": "n.*104C>T",
"hgvs_p": null,
"transcript": "ENST00000461050.6",
"protein_id": "ENSP00000476319.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIT1",
"gene_hgnc_id": 10023,
"hgvs_c": "n.*46C>T",
"hgvs_p": null,
"transcript": "ENST00000704061.1",
"protein_id": "ENSP00000515664.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIT1",
"gene_hgnc_id": 10023,
"hgvs_c": "n.*104C>T",
"hgvs_p": null,
"transcript": "ENST00000461050.6",
"protein_id": "ENSP00000476319.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIT1",
"gene_hgnc_id": 10023,
"hgvs_c": "n.*46C>T",
"hgvs_p": null,
"transcript": "ENST00000704061.1",
"protein_id": "ENSP00000515664.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIT1",
"gene_hgnc_id": 10023,
"hgvs_c": "c.*9C>T",
"hgvs_p": null,
"transcript": "ENST00000651833.1",
"protein_id": "ENSP00000498732.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 121,
"cds_start": -4,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIT1",
"gene_hgnc_id": 10023,
"hgvs_c": "n.*247C>T",
"hgvs_p": null,
"transcript": "ENST00000650659.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RIT1",
"gene_hgnc_id": 10023,
"dbsnp": "rs34831194",
"frequency_reference_population": 0.0013029514,
"hom_count_reference_population": 25,
"allele_count_reference_population": 2103,
"gnomad_exomes_af": 0.000703938,
"gnomad_genomes_af": 0.00705409,
"gnomad_exomes_ac": 1029,
"gnomad_genomes_ac": 1074,
"gnomad_exomes_homalt": 10,
"gnomad_genomes_homalt": 15,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5099999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.215,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000368323.8",
"gene_symbol": "RIT1",
"hgnc_id": 10023,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.375C>T",
"hgvs_p": "p.Asp125Asp"
}
],
"clinvar_disease": "Cardiovascular phenotype,Noonan syndrome 8,Noonan syndrome and Noonan-related syndrome,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:13",
"phenotype_combined": "not specified|not provided|Noonan syndrome 8|Cardiovascular phenotype|Noonan syndrome and Noonan-related syndrome",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}