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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: 6-149889549-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=149889549&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 149889549,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000357183.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAET1E",
"gene_hgnc_id": 16793,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Ala141Thr",
"transcript": "NM_001394057.1",
"protein_id": "NP_001380986.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 263,
"cds_start": 421,
"cds_end": null,
"cds_length": 792,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 6524,
"mane_select": "ENST00000357183.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAET1E",
"gene_hgnc_id": 16793,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Ala141Thr",
"transcript": "ENST00000357183.9",
"protein_id": "ENSP00000349709.4",
"transcript_support_level": 1,
"aa_start": 141,
"aa_end": null,
"aa_length": 263,
"cds_start": 421,
"cds_end": null,
"cds_length": 792,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 6524,
"mane_select": "NM_001394057.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAET1E",
"gene_hgnc_id": 16793,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Ala105Thr",
"transcript": "ENST00000367363.3",
"protein_id": "ENSP00000356332.3",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 227,
"cds_start": 313,
"cds_end": null,
"cds_length": 684,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAET1E",
"gene_hgnc_id": 16793,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Ala141Thr",
"transcript": "ENST00000532335.5",
"protein_id": "ENSP00000437067.1",
"transcript_support_level": 1,
"aa_start": 141,
"aa_end": null,
"aa_length": 212,
"cds_start": 421,
"cds_end": null,
"cds_length": 639,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 2099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "RAET1E",
"gene_hgnc_id": 16793,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Ala141Thr",
"transcript": "ENST00000529948.1",
"protein_id": "ENSP00000432366.1",
"transcript_support_level": 1,
"aa_start": 141,
"aa_end": null,
"aa_length": 209,
"cds_start": 421,
"cds_end": null,
"cds_length": 630,
"cdna_start": 421,
"cdna_end": null,
"cdna_length": 875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285991",
"gene_hgnc_id": null,
"hgvs_c": "n.421G>A",
"hgvs_p": null,
"transcript": "ENST00000647612.1",
"protein_id": "ENSP00000498179.1",
"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": 5065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RAET1E-AS1",
"gene_hgnc_id": null,
"hgvs_c": "n.889+25167C>T",
"hgvs_p": null,
"transcript": "ENST00000606915.2",
"protein_id": null,
"transcript_support_level": 1,
"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": 1217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAET1E",
"gene_hgnc_id": 16793,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Ala141Thr",
"transcript": "NM_139165.3",
"protein_id": "NP_631904.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 263,
"cds_start": 421,
"cds_end": null,
"cds_length": 792,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 6154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAET1E",
"gene_hgnc_id": 16793,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Ala141Thr",
"transcript": "NM_001394056.1",
"protein_id": "NP_001380985.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 255,
"cds_start": 421,
"cds_end": null,
"cds_length": 768,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 2490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAET1E",
"gene_hgnc_id": 16793,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Ala105Thr",
"transcript": "NM_001243325.2",
"protein_id": "NP_001230254.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 227,
"cds_start": 313,
"cds_end": null,
"cds_length": 684,
"cdna_start": 356,
"cdna_end": null,
"cdna_length": 6046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAET1E",
"gene_hgnc_id": 16793,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Ala141Thr",
"transcript": "NM_001243328.3",
"protein_id": "NP_001230257.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 212,
"cds_start": 421,
"cds_end": null,
"cds_length": 639,
"cdna_start": 839,
"cdna_end": null,
"cdna_length": 2366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "RAET1E",
"gene_hgnc_id": 16793,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Ala141Thr",
"transcript": "NM_001243327.2",
"protein_id": "NP_001230256.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 209,
"cds_start": 421,
"cds_end": null,
"cds_length": 630,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 6834,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAET1E",
"gene_hgnc_id": 16793,
"hgvs_c": "n.315G>A",
"hgvs_p": null,
"transcript": "ENST00000392270.3",
"protein_id": "ENSP00000376096.3",
"transcript_support_level": 2,
"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": 743,
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAET1E-LRP11",
"gene_hgnc_id": null,
"hgvs_c": "n.839G>A",
"hgvs_p": null,
"transcript": "NR_182438.1",
"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": 5195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RAET1E-AS1",
"gene_hgnc_id": 48994,
"hgvs_c": "n.114+3876C>T",
"hgvs_p": null,
"transcript": "ENST00000605899.1",
"protein_id": null,
"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": 434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RAET1E-AS1",
"gene_hgnc_id": 48994,
"hgvs_c": "n.885+25167C>T",
"hgvs_p": null,
"transcript": "NR_045126.1",
"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": 1207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RAET1E",
"gene_hgnc_id": 16793,
"dbsnp": "rs9383921",
"frequency_reference_population": 0.4072087,
"hom_count_reference_population": 141331,
"allele_count_reference_population": 656993,
"gnomad_exomes_af": 0.410875,
"gnomad_genomes_af": 0.37193,
"gnomad_exomes_ac": 600505,
"gnomad_genomes_ac": 56488,
"gnomad_exomes_homalt": 129337,
"gnomad_genomes_homalt": 11994,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.000002932994448201498,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.007,
"revel_prediction": "Benign",
"alphamissense_score": 0.0837,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.88,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000357183.9",
"gene_symbol": "RAET1E",
"hgnc_id": 16793,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Ala141Thr"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000647612.1",
"gene_symbol": "ENSG00000285991",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.421G>A",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NR_182438.1",
"gene_symbol": "RAET1E-LRP11",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.839G>A",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000606915.2",
"gene_symbol": "RAET1E-AS1",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.889+25167C>T",
"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
}