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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: 5-140697595-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=140697595&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 140697595,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_012208.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.1224A>G",
"hgvs_p": "p.Thr408Thr",
"transcript": "NM_012208.4",
"protein_id": "NP_036340.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 506,
"cds_start": 1224,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 1418,
"cdna_end": null,
"cdna_length": 2468,
"mane_select": "ENST00000230771.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.1224A>G",
"hgvs_p": "p.Thr408Thr",
"transcript": "ENST00000230771.9",
"protein_id": "ENSP00000230771.3",
"transcript_support_level": 1,
"aa_start": 408,
"aa_end": null,
"aa_length": 506,
"cds_start": 1224,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 1418,
"cdna_end": null,
"cdna_length": 2468,
"mane_select": "NM_012208.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.1242A>G",
"hgvs_p": "p.Thr414Thr",
"transcript": "NM_001363535.2",
"protein_id": "NP_001350464.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 512,
"cds_start": 1242,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1436,
"cdna_end": null,
"cdna_length": 2486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.1242A>G",
"hgvs_p": "p.Thr414Thr",
"transcript": "ENST00000645065.1",
"protein_id": "ENSP00000493571.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 512,
"cds_start": 1242,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1347,
"cdna_end": null,
"cdna_length": 2363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.1242A>G",
"hgvs_p": "p.Thr414Thr",
"transcript": "ENST00000646468.1",
"protein_id": "ENSP00000494965.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 512,
"cds_start": 1242,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1433,
"cdna_end": null,
"cdna_length": 2469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.1224A>G",
"hgvs_p": "p.Thr408Thr",
"transcript": "ENST00000645749.1",
"protein_id": "ENSP00000494296.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 506,
"cds_start": 1224,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 2292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.1149A>G",
"hgvs_p": "p.Thr383Thr",
"transcript": "NM_001278731.2",
"protein_id": "NP_001265660.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 481,
"cds_start": 1149,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1343,
"cdna_end": null,
"cdna_length": 2393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.1149A>G",
"hgvs_p": "p.Thr383Thr",
"transcript": "ENST00000508522.5",
"protein_id": "ENSP00000423616.1",
"transcript_support_level": 2,
"aa_start": 383,
"aa_end": null,
"aa_length": 481,
"cds_start": 1149,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1189,
"cdna_end": null,
"cdna_length": 1562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.1125A>G",
"hgvs_p": "p.Thr375Thr",
"transcript": "ENST00000642752.1",
"protein_id": "ENSP00000493630.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 473,
"cds_start": 1125,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1321,
"cdna_end": null,
"cdna_length": 2346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.1014A>G",
"hgvs_p": "p.Thr338Thr",
"transcript": "NM_001363536.2",
"protein_id": "NP_001350465.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 436,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 2450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.1014A>G",
"hgvs_p": "p.Thr338Thr",
"transcript": "ENST00000642970.1",
"protein_id": "ENSP00000496011.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 436,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 2436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.1014A>G",
"hgvs_p": "p.Thr338Thr",
"transcript": "ENST00000643996.1",
"protein_id": "ENSP00000495350.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 436,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 2485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.903A>G",
"hgvs_p": "p.Thr301Thr",
"transcript": "ENST00000503873.6",
"protein_id": "ENSP00000424516.2",
"transcript_support_level": 3,
"aa_start": 301,
"aa_end": null,
"aa_length": 399,
"cds_start": 903,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 2110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.792A>G",
"hgvs_p": "p.Thr264Thr",
"transcript": "NM_001278732.2",
"protein_id": "NP_001265661.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 362,
"cds_start": 792,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 1296,
"cdna_end": null,
"cdna_length": 2346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.708A>G",
"hgvs_p": "p.Thr236Thr",
"transcript": "ENST00000448069.2",
"protein_id": "ENSP00000407105.2",
"transcript_support_level": 2,
"aa_start": 236,
"aa_end": null,
"aa_length": 334,
"cds_start": 708,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 1426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "n.*802A>G",
"hgvs_p": null,
"transcript": "ENST00000520095.6",
"protein_id": "ENSP00000429220.1",
"transcript_support_level": 4,
"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": 1747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "n.*605A>G",
"hgvs_p": null,
"transcript": "ENST00000642452.1",
"protein_id": "ENSP00000494742.1",
"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": 2257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "n.*605A>G",
"hgvs_p": null,
"transcript": "ENST00000647484.1",
"protein_id": "ENSP00000494140.1",
"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": 2310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "n.*802A>G",
"hgvs_p": null,
"transcript": "ENST00000520095.6",
"protein_id": "ENSP00000429220.1",
"transcript_support_level": 4,
"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": 1747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "n.*605A>G",
"hgvs_p": null,
"transcript": "ENST00000642452.1",
"protein_id": "ENSP00000494742.1",
"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": 2257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "n.*605A>G",
"hgvs_p": null,
"transcript": "ENST00000647484.1",
"protein_id": "ENSP00000494140.1",
"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": 2310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"dbsnp": "rs755985809",
"frequency_reference_population": 0.0000047893377,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000478934,
"gnomad_genomes_af": 0.00000656495,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5199999809265137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.486,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_012208.4",
"gene_symbol": "HARS2",
"hgnc_id": 4817,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1224A>G",
"hgvs_p": "p.Thr408Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}