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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: 5-1798680-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=1798680&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MRPL36",
"hgnc_id": 14490,
"hgvs_c": "c.256G>T",
"hgvs_p": "p.Gly86Cys",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_032479.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 10,
"alphamissense_prediction": null,
"alphamissense_score": 0.8725,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.13,
"chr": "5",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8913207054138184,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 103,
"aa_ref": "G",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 609,
"cdna_start": 314,
"cds_end": null,
"cds_length": 312,
"cds_start": 256,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_032479.4",
"gene_hgnc_id": 14490,
"gene_symbol": "MRPL36",
"hgvs_c": "c.256G>T",
"hgvs_p": "p.Gly86Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000505059.7",
"protein_coding": true,
"protein_id": "NP_115868.1",
"strand": false,
"transcript": "NM_032479.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 103,
"aa_ref": "G",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 609,
"cdna_start": 314,
"cds_end": null,
"cds_length": 312,
"cds_start": 256,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000505059.7",
"gene_hgnc_id": 14490,
"gene_symbol": "MRPL36",
"hgvs_c": "c.256G>T",
"hgvs_p": "p.Gly86Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032479.4",
"protein_coding": true,
"protein_id": "ENSP00000423152.1",
"strand": false,
"transcript": "ENST00000505059.7",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 103,
"aa_ref": "G",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 587,
"cdna_start": 297,
"cds_end": null,
"cds_length": 312,
"cds_start": 256,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000382647.7",
"gene_hgnc_id": 14490,
"gene_symbol": "MRPL36",
"hgvs_c": "c.256G>T",
"hgvs_p": "p.Gly86Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000372093.6",
"strand": false,
"transcript": "ENST00000382647.7",
"transcript_support_level": 3
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 103,
"aa_ref": "G",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 595,
"cdna_start": 301,
"cds_end": null,
"cds_length": 312,
"cds_start": 256,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000505818.1",
"gene_hgnc_id": 14490,
"gene_symbol": "MRPL36",
"hgvs_c": "c.256G>T",
"hgvs_p": "p.Gly86Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427152.1",
"strand": false,
"transcript": "ENST00000505818.1",
"transcript_support_level": 3
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 103,
"aa_ref": "G",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 686,
"cdna_start": 393,
"cds_end": null,
"cds_length": 312,
"cds_start": 256,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000508987.1",
"gene_hgnc_id": 14490,
"gene_symbol": "MRPL36",
"hgvs_c": "c.256G>T",
"hgvs_p": "p.Gly86Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423399.1",
"strand": false,
"transcript": "ENST00000508987.1",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 103,
"aa_ref": "G",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1567,
"cdna_start": 1272,
"cds_end": null,
"cds_length": 312,
"cds_start": 256,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000887752.1",
"gene_hgnc_id": 14490,
"gene_symbol": "MRPL36",
"hgvs_c": "c.256G>T",
"hgvs_p": "p.Gly86Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557811.1",
"strand": false,
"transcript": "ENST00000887752.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 103,
"aa_ref": "G",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 675,
"cdna_start": 376,
"cds_end": null,
"cds_length": 312,
"cds_start": 256,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000887753.1",
"gene_hgnc_id": 14490,
"gene_symbol": "MRPL36",
"hgvs_c": "c.256G>T",
"hgvs_p": "p.Gly86Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557812.1",
"strand": false,
"transcript": "ENST00000887753.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 103,
"aa_ref": "G",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 601,
"cdna_start": 310,
"cds_end": null,
"cds_length": 312,
"cds_start": 256,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000887754.1",
"gene_hgnc_id": 14490,
"gene_symbol": "MRPL36",
"hgvs_c": "c.256G>T",
"hgvs_p": "p.Gly86Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557813.1",
"strand": false,
"transcript": "ENST00000887754.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 103,
"aa_ref": "G",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 600,
"cdna_start": 307,
"cds_end": null,
"cds_length": 312,
"cds_start": 256,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000933972.1",
"gene_hgnc_id": 14490,
"gene_symbol": "MRPL36",
"hgvs_c": "c.256G>T",
"hgvs_p": "p.Gly86Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604031.1",
"strand": false,
"transcript": "ENST00000933972.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 103,
"aa_ref": "G",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 605,
"cdna_start": 312,
"cds_end": null,
"cds_length": 312,
"cds_start": 256,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000933973.1",
"gene_hgnc_id": 14490,
"gene_symbol": "MRPL36",
"hgvs_c": "c.256G>T",
"hgvs_p": "p.Gly86Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604032.1",
"strand": false,
"transcript": "ENST00000933973.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 103,
"aa_ref": "G",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 669,
"cdna_start": 379,
"cds_end": null,
"cds_length": 312,
"cds_start": 256,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000933974.1",
"gene_hgnc_id": 14490,
"gene_symbol": "MRPL36",
"hgvs_c": "c.256G>T",
"hgvs_p": "p.Gly86Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604033.1",
"strand": false,
"transcript": "ENST00000933974.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 169,
"aa_ref": "G",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 848,
"cdna_start": 553,
"cds_end": null,
"cds_length": 510,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011514079.2",
"gene_hgnc_id": 14490,
"gene_symbol": "MRPL36",
"hgvs_c": "c.454G>T",
"hgvs_p": "p.Gly152Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512381.1",
"strand": false,
"transcript": "XM_011514079.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 118,
"aa_ref": "G",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 664,
"cdna_start": 369,
"cds_end": null,
"cds_length": 357,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011514080.3",
"gene_hgnc_id": 14490,
"gene_symbol": "MRPL36",
"hgvs_c": "c.301G>T",
"hgvs_p": "p.Gly101Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512382.1",
"strand": false,
"transcript": "XM_011514080.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 103,
"aa_ref": "G",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 591,
"cdna_start": 296,
"cds_end": null,
"cds_length": 312,
"cds_start": 256,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017009750.2",
"gene_hgnc_id": 14490,
"gene_symbol": "MRPL36",
"hgvs_c": "c.256G>T",
"hgvs_p": "p.Gly86Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865239.1",
"strand": false,
"transcript": "XM_017009750.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 103,
"aa_ref": "G",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 628,
"cdna_start": 333,
"cds_end": null,
"cds_length": 312,
"cds_start": 256,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017009751.3",
"gene_hgnc_id": 14490,
"gene_symbol": "MRPL36",
"hgvs_c": "c.256G>T",
"hgvs_p": "p.Gly86Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865240.1",
"strand": false,
"transcript": "XM_017009751.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 103,
"aa_ref": "G",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 630,
"cdna_start": 335,
"cds_end": null,
"cds_length": 312,
"cds_start": 256,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017009752.2",
"gene_hgnc_id": 14490,
"gene_symbol": "MRPL36",
"hgvs_c": "c.256G>T",
"hgvs_p": "p.Gly86Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865241.1",
"strand": false,
"transcript": "XM_017009752.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 34,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 793,
"cdna_start": null,
"cds_end": null,
"cds_length": 107,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000510999.1",
"gene_hgnc_id": 14490,
"gene_symbol": "MRPL36",
"hgvs_c": "c.*149G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424366.1",
"strand": true,
"transcript": "ENST00000510999.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs992860537",
"effect": "missense_variant",
"frequency_reference_population": 0.0000061968694,
"gene_hgnc_id": 14490,
"gene_symbol": "MRPL36",
"gnomad_exomes_ac": 7,
"gnomad_exomes_af": 0.00000478918,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 3,
"gnomad_genomes_af": 0.0000197252,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.418,
"pos": 1798680,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.598,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_032479.4"
}
]
}