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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: 5-40832523-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=40832523&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 40832523,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000997.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL37",
"gene_hgnc_id": 10347,
"hgvs_c": "c.275C>A",
"hgvs_p": "p.Ala92Glu",
"transcript": "NM_000997.5",
"protein_id": "NP_000988.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 97,
"cds_start": 275,
"cds_end": null,
"cds_length": 294,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 7573,
"mane_select": "ENST00000274242.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000997.5"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL37",
"gene_hgnc_id": 10347,
"hgvs_c": "c.275C>A",
"hgvs_p": "p.Ala92Glu",
"transcript": "ENST00000274242.10",
"protein_id": "ENSP00000274242.5",
"transcript_support_level": 1,
"aa_start": 92,
"aa_end": null,
"aa_length": 97,
"cds_start": 275,
"cds_end": null,
"cds_length": 294,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 7573,
"mane_select": "NM_000997.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000274242.10"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL37",
"gene_hgnc_id": 10347,
"hgvs_c": "c.356C>A",
"hgvs_p": "p.Ala119Glu",
"transcript": "ENST00000916328.1",
"protein_id": "ENSP00000586387.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 124,
"cds_start": 356,
"cds_end": null,
"cds_length": 375,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 453,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916328.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL37",
"gene_hgnc_id": 10347,
"hgvs_c": "c.332C>A",
"hgvs_p": "p.Ala111Glu",
"transcript": "ENST00000916326.1",
"protein_id": "ENSP00000586385.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 116,
"cds_start": 332,
"cds_end": null,
"cds_length": 351,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 454,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916326.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL37",
"gene_hgnc_id": 10347,
"hgvs_c": "c.263C>A",
"hgvs_p": "p.Ala88Glu",
"transcript": "ENST00000916325.1",
"protein_id": "ENSP00000586384.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 93,
"cds_start": 263,
"cds_end": null,
"cds_length": 282,
"cdna_start": 347,
"cdna_end": null,
"cdna_length": 416,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916325.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL37",
"gene_hgnc_id": 10347,
"hgvs_c": "c.248C>A",
"hgvs_p": "p.Ala83Glu",
"transcript": "ENST00000916330.1",
"protein_id": "ENSP00000586389.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 88,
"cds_start": 248,
"cds_end": null,
"cds_length": 267,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 342,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916330.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL37",
"gene_hgnc_id": 10347,
"hgvs_c": "c.236C>A",
"hgvs_p": "p.Ala79Glu",
"transcript": "ENST00000916327.1",
"protein_id": "ENSP00000586386.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 84,
"cds_start": 236,
"cds_end": null,
"cds_length": 255,
"cdna_start": 267,
"cdna_end": null,
"cdna_length": 336,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916327.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL37",
"gene_hgnc_id": 10347,
"hgvs_c": "c.190C>A",
"hgvs_p": "p.Gln64Lys",
"transcript": "ENST00000509877.5",
"protein_id": "ENSP00000422823.1",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 74,
"cds_start": 190,
"cds_end": null,
"cds_length": 225,
"cdna_start": 217,
"cdna_end": null,
"cdna_length": 637,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509877.5"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL37",
"gene_hgnc_id": 10347,
"hgvs_c": "c.188C>A",
"hgvs_p": "p.Ala63Glu",
"transcript": "ENST00000916329.1",
"protein_id": "ENSP00000586388.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 68,
"cds_start": 188,
"cds_end": null,
"cds_length": 207,
"cdna_start": 215,
"cdna_end": null,
"cdna_length": 284,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916329.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL37",
"gene_hgnc_id": 10347,
"hgvs_c": "n.440C>A",
"hgvs_p": null,
"transcript": "ENST00000504562.1",
"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": 505,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000504562.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL37",
"gene_hgnc_id": 10347,
"hgvs_c": "n.350C>A",
"hgvs_p": null,
"transcript": "ENST00000507642.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 425,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000507642.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL37",
"gene_hgnc_id": 10347,
"hgvs_c": "n.33C>A",
"hgvs_p": null,
"transcript": "ENST00000511787.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 435,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000511787.1"
},
{
"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": "RPL37",
"gene_hgnc_id": 10347,
"hgvs_c": "n.312C>A",
"hgvs_p": null,
"transcript": "NR_159993.1",
"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": 3083,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_159993.1"
},
{
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNORD72",
"gene_hgnc_id": 32733,
"hgvs_c": "n.*133C>A",
"hgvs_p": null,
"transcript": "ENST00000390994.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 80,
"mane_select": null,
"mane_plus": null,
"biotype": "snoRNA",
"feature": "ENST00000390994.1"
},
{
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNORD72",
"gene_hgnc_id": 32733,
"hgvs_c": "n.*133C>A",
"hgvs_p": null,
"transcript": "NR_002583.1",
"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": 80,
"mane_select": null,
"mane_plus": null,
"biotype": "snoRNA",
"feature": "NR_002583.1"
}
],
"gene_symbol": "RPL37",
"gene_hgnc_id": 10347,
"dbsnp": "rs770111750",
"frequency_reference_population": 0.000008676478,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000821146,
"gnomad_genomes_af": 0.0000131418,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5335232019424438,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.328,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5702,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.661,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000997.5",
"gene_symbol": "RPL37",
"hgnc_id": 10347,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.275C>A",
"hgvs_p": "p.Ala92Glu"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NR_002583.1",
"gene_symbol": "SNORD72",
"hgnc_id": 32733,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*133C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}