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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: 19-15451913-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=15451913&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 15451913,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001400377.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL3",
"gene_hgnc_id": 26129,
"hgvs_c": "c.2918G>A",
"hgvs_p": "p.Arg973Lys",
"transcript": "NM_022904.3",
"protein_id": "NP_075055.1",
"transcript_support_level": null,
"aa_start": 973,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2918,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000343625.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022904.3"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL3",
"gene_hgnc_id": 26129,
"hgvs_c": "c.2918G>A",
"hgvs_p": "p.Arg973Lys",
"transcript": "ENST00000343625.12",
"protein_id": "ENSP00000341905.5",
"transcript_support_level": 2,
"aa_start": 973,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2918,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022904.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343625.12"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL3",
"gene_hgnc_id": 26129,
"hgvs_c": "c.2945G>A",
"hgvs_p": "p.Arg982Lys",
"transcript": "ENST00000909962.1",
"protein_id": "ENSP00000580021.1",
"transcript_support_level": null,
"aa_start": 982,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2945,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909962.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL3",
"gene_hgnc_id": 26129,
"hgvs_c": "c.2927G>A",
"hgvs_p": "p.Arg976Lys",
"transcript": "NM_001400377.1",
"protein_id": "NP_001387306.1",
"transcript_support_level": null,
"aa_start": 976,
"aa_end": null,
"aa_length": 1014,
"cds_start": 2927,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400377.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL3",
"gene_hgnc_id": 26129,
"hgvs_c": "c.2927G>A",
"hgvs_p": "p.Arg976Lys",
"transcript": "ENST00000909960.1",
"protein_id": "ENSP00000580019.1",
"transcript_support_level": null,
"aa_start": 976,
"aa_end": null,
"aa_length": 1014,
"cds_start": 2927,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909960.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL3",
"gene_hgnc_id": 26129,
"hgvs_c": "c.2918G>A",
"hgvs_p": "p.Arg973Lys",
"transcript": "ENST00000909964.1",
"protein_id": "ENSP00000580023.1",
"transcript_support_level": null,
"aa_start": 973,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2918,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909964.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL3",
"gene_hgnc_id": 26129,
"hgvs_c": "c.2909G>A",
"hgvs_p": "p.Arg970Lys",
"transcript": "ENST00000909961.1",
"protein_id": "ENSP00000580020.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2909,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909961.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL3",
"gene_hgnc_id": 26129,
"hgvs_c": "c.2900G>A",
"hgvs_p": "p.Arg967Lys",
"transcript": "NM_001400378.1",
"protein_id": "NP_001387307.1",
"transcript_support_level": null,
"aa_start": 967,
"aa_end": null,
"aa_length": 1005,
"cds_start": 2900,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400378.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL3",
"gene_hgnc_id": 26129,
"hgvs_c": "c.2900G>A",
"hgvs_p": "p.Arg967Lys",
"transcript": "ENST00000909959.1",
"protein_id": "ENSP00000580018.1",
"transcript_support_level": null,
"aa_start": 967,
"aa_end": null,
"aa_length": 1005,
"cds_start": 2900,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909959.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL3",
"gene_hgnc_id": 26129,
"hgvs_c": "c.2900G>A",
"hgvs_p": "p.Arg967Lys",
"transcript": "ENST00000909965.1",
"protein_id": "ENSP00000580024.1",
"transcript_support_level": null,
"aa_start": 967,
"aa_end": null,
"aa_length": 1005,
"cds_start": 2900,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909965.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL3",
"gene_hgnc_id": 26129,
"hgvs_c": "c.2879G>A",
"hgvs_p": "p.Arg960Lys",
"transcript": "ENST00000909963.1",
"protein_id": "ENSP00000580022.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 998,
"cds_start": 2879,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909963.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL3",
"gene_hgnc_id": 26129,
"hgvs_c": "c.1217G>A",
"hgvs_p": "p.Arg406Lys",
"transcript": "ENST00000599694.1",
"protein_id": "ENSP00000468841.1",
"transcript_support_level": 5,
"aa_start": 406,
"aa_end": null,
"aa_length": 444,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599694.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL3",
"gene_hgnc_id": 26129,
"hgvs_c": "c.2909G>A",
"hgvs_p": "p.Arg970Lys",
"transcript": "XM_011528186.2",
"protein_id": "XP_011526488.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2909,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528186.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL3",
"gene_hgnc_id": 26129,
"hgvs_c": "c.*13G>A",
"hgvs_p": null,
"transcript": "NM_001400379.1",
"protein_id": "NP_001387308.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 946,
"cds_start": null,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400379.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL3",
"gene_hgnc_id": 26129,
"hgvs_c": "c.*13G>A",
"hgvs_p": null,
"transcript": "NM_001400380.1",
"protein_id": "NP_001387309.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 940,
"cds_start": null,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400380.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL3",
"gene_hgnc_id": 26129,
"hgvs_c": "c.*13G>A",
"hgvs_p": null,
"transcript": "XM_011528187.2",
"protein_id": "XP_011526489.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 949,
"cds_start": null,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528187.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL3",
"gene_hgnc_id": 26129,
"hgvs_c": "n.3989G>A",
"hgvs_p": null,
"transcript": "ENST00000602101.6",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000602101.6"
},
{
"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": "RASAL3",
"gene_hgnc_id": 26129,
"hgvs_c": "n.1428G>A",
"hgvs_p": null,
"transcript": "ENST00000609274.6",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000609274.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL3",
"gene_hgnc_id": 26129,
"hgvs_c": "n.2832G>A",
"hgvs_p": null,
"transcript": "NR_174477.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_174477.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL3",
"gene_hgnc_id": 26129,
"hgvs_c": "n.2948G>A",
"hgvs_p": null,
"transcript": "NR_174478.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_174478.1"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL3",
"gene_hgnc_id": 26129,
"hgvs_c": "c.*232G>A",
"hgvs_p": null,
"transcript": "XM_047439231.1",
"protein_id": "XP_047295187.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 980,
"cds_start": null,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439231.1"
}
],
"gene_symbol": "RASAL3",
"gene_hgnc_id": 26129,
"dbsnp": "rs755504855",
"frequency_reference_population": 0.0000034347358,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000343474,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.026660114526748657,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.121,
"revel_prediction": "Benign",
"alphamissense_score": 0.0776,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.925,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001400377.1",
"gene_symbol": "RASAL3",
"hgnc_id": 26129,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2927G>A",
"hgvs_p": "p.Arg976Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}