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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: 7-55953248-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=55953248&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 55953248,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015969.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"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": "MRPS17",
"gene_hgnc_id": 14047,
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Ile18Thr",
"transcript": "NM_015969.3",
"protein_id": "NP_057053.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 130,
"cds_start": 53,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000285298.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015969.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "MRPS17",
"gene_hgnc_id": 14047,
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Ile18Thr",
"transcript": "ENST00000285298.9",
"protein_id": "ENSP00000285298.4",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 130,
"cds_start": 53,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015969.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000285298.9"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000249773",
"gene_hgnc_id": null,
"hgvs_c": "c.338T>C",
"hgvs_p": "p.Ile113Thr",
"transcript": "ENST00000426595.1",
"protein_id": "ENSP00000390331.1",
"transcript_support_level": 5,
"aa_start": 113,
"aa_end": null,
"aa_length": 225,
"cds_start": 338,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426595.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "MRPS17",
"gene_hgnc_id": 14047,
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Ile18Thr",
"transcript": "ENST00000909935.1",
"protein_id": "ENSP00000579994.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 130,
"cds_start": 53,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909935.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "MRPS17",
"gene_hgnc_id": 14047,
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Ile18Thr",
"transcript": "ENST00000909936.1",
"protein_id": "ENSP00000579995.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 130,
"cds_start": 53,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909936.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "MRPS17",
"gene_hgnc_id": 14047,
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Ile18Thr",
"transcript": "ENST00000914644.1",
"protein_id": "ENSP00000584703.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 130,
"cds_start": 53,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914644.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "MRPS17",
"gene_hgnc_id": 14047,
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Ile18Thr",
"transcript": "ENST00000914645.1",
"protein_id": "ENSP00000584704.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 130,
"cds_start": 53,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914645.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "MRPS17",
"gene_hgnc_id": 14047,
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Ile18Thr",
"transcript": "ENST00000914646.1",
"protein_id": "ENSP00000584705.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 130,
"cds_start": 53,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914646.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "MRPS17",
"gene_hgnc_id": 14047,
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Ile18Thr",
"transcript": "ENST00000914648.1",
"protein_id": "ENSP00000584707.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 130,
"cds_start": 53,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914648.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "MRPS17",
"gene_hgnc_id": 14047,
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Ile18Thr",
"transcript": "ENST00000914649.1",
"protein_id": "ENSP00000584708.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 130,
"cds_start": 53,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914649.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "MRPS17",
"gene_hgnc_id": 14047,
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Ile18Thr",
"transcript": "ENST00000914650.1",
"protein_id": "ENSP00000584709.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 130,
"cds_start": 53,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914650.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "MRPS17",
"gene_hgnc_id": 14047,
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Ile18Thr",
"transcript": "ENST00000914651.1",
"protein_id": "ENSP00000584710.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 130,
"cds_start": 53,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914651.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "MRPS17",
"gene_hgnc_id": 14047,
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Ile18Thr",
"transcript": "ENST00000914652.1",
"protein_id": "ENSP00000584711.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 130,
"cds_start": 53,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914652.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "MRPS17",
"gene_hgnc_id": 14047,
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Ile18Thr",
"transcript": "ENST00000914653.1",
"protein_id": "ENSP00000584712.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 130,
"cds_start": 53,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914653.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "MRPS17",
"gene_hgnc_id": 14047,
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Ile18Thr",
"transcript": "ENST00000914654.1",
"protein_id": "ENSP00000584713.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 130,
"cds_start": 53,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914654.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "MRPS17",
"gene_hgnc_id": 14047,
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Ile18Thr",
"transcript": "ENST00000943621.1",
"protein_id": "ENSP00000613680.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 130,
"cds_start": 53,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943621.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "MRPS17",
"gene_hgnc_id": 14047,
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Ile18Thr",
"transcript": "ENST00000443449.1",
"protein_id": "ENSP00000401349.1",
"transcript_support_level": 2,
"aa_start": 18,
"aa_end": null,
"aa_length": 128,
"cds_start": 53,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443449.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "MRPS17",
"gene_hgnc_id": 14047,
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Ile18Thr",
"transcript": "ENST00000914647.1",
"protein_id": "ENSP00000584706.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 126,
"cds_start": 53,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914647.1"
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NIPSNAP2",
"gene_hgnc_id": 4179,
"hgvs_c": "c.-329+1318T>C",
"hgvs_p": null,
"transcript": "ENST00000446692.5",
"protein_id": "ENSP00000406336.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 64,
"cds_start": null,
"cds_end": null,
"cds_length": 196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446692.5"
}
],
"gene_symbol": "MRPS17",
"gene_hgnc_id": 14047,
"dbsnp": "rs528261853",
"frequency_reference_population": 0.00006505229,
"hom_count_reference_population": 3,
"allele_count_reference_population": 105,
"gnomad_exomes_af": 0.0000677204,
"gnomad_genomes_af": 0.0000394239,
"gnomad_exomes_ac": 99,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06586432456970215,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.295,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1531,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.555,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_015969.3",
"gene_symbol": "MRPS17",
"hgnc_id": 14047,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Ile18Thr"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000426595.1",
"gene_symbol": "ENSG00000249773",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.338T>C",
"hgvs_p": "p.Ile113Thr"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000446692.5",
"gene_symbol": "NIPSNAP2",
"hgnc_id": 4179,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-329+1318T>C",
"hgvs_p": null
}
],
"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
}