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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: 3-7579141-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=7579141&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 7579141,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000357716.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"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": "GRM7",
"gene_hgnc_id": 4599,
"hgvs_c": "c.2235G>A",
"hgvs_p": "p.Gly745Gly",
"transcript": "NM_000844.4",
"protein_id": "NP_000835.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 915,
"cds_start": 2235,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 2509,
"cdna_end": null,
"cdna_length": 4149,
"mane_select": "ENST00000357716.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"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": "GRM7",
"gene_hgnc_id": 4599,
"hgvs_c": "c.2235G>A",
"hgvs_p": "p.Gly745Gly",
"transcript": "ENST00000357716.9",
"protein_id": "ENSP00000350348.4",
"transcript_support_level": 1,
"aa_start": 745,
"aa_end": null,
"aa_length": 915,
"cds_start": 2235,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 2509,
"cdna_end": null,
"cdna_length": 4149,
"mane_select": "NM_000844.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"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": "GRM7",
"gene_hgnc_id": 4599,
"hgvs_c": "c.2235G>A",
"hgvs_p": "p.Gly745Gly",
"transcript": "ENST00000389336.8",
"protein_id": "ENSP00000373987.4",
"transcript_support_level": 1,
"aa_start": 745,
"aa_end": null,
"aa_length": 906,
"cds_start": 2235,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2384,
"cdna_end": null,
"cdna_length": 2901,
"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": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM7",
"gene_hgnc_id": 4599,
"hgvs_c": "n.2235G>A",
"hgvs_p": null,
"transcript": "ENST00000389335.7",
"protein_id": "ENSP00000373986.3",
"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": 3020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM7",
"gene_hgnc_id": 4599,
"hgvs_c": "n.2235G>A",
"hgvs_p": null,
"transcript": "ENST00000440923.7",
"protein_id": "ENSP00000412329.3",
"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": 3088,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM7",
"gene_hgnc_id": 4599,
"hgvs_c": "n.1500G>A",
"hgvs_p": null,
"transcript": "ENST00000463676.6",
"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": 4003,
"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": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM7",
"gene_hgnc_id": 4599,
"hgvs_c": "n.2235G>A",
"hgvs_p": null,
"transcript": "ENST00000467425.5",
"protein_id": "ENSP00000419835.1",
"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": 3289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM7",
"gene_hgnc_id": 4599,
"hgvs_c": "c.2235G>A",
"hgvs_p": "p.Gly745Gly",
"transcript": "NM_181874.3",
"protein_id": "NP_870989.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 922,
"cds_start": 2235,
"cds_end": null,
"cds_length": 2769,
"cdna_start": 2509,
"cdna_end": null,
"cdna_length": 4241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM7",
"gene_hgnc_id": 4599,
"hgvs_c": "c.2235G>A",
"hgvs_p": "p.Gly745Gly",
"transcript": "ENST00000486284.5",
"protein_id": "ENSP00000417536.1",
"transcript_support_level": 5,
"aa_start": 745,
"aa_end": null,
"aa_length": 922,
"cds_start": 2235,
"cds_end": null,
"cds_length": 2769,
"cdna_start": 2509,
"cdna_end": null,
"cdna_length": 4241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM7",
"gene_hgnc_id": 4599,
"hgvs_c": "c.1716G>A",
"hgvs_p": "p.Gly572Gly",
"transcript": "ENST00000706912.1",
"protein_id": "ENSP00000516621.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 663,
"cds_start": 1716,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 2814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM7",
"gene_hgnc_id": 4599,
"hgvs_c": "c.2235G>A",
"hgvs_p": "p.Gly745Gly",
"transcript": "XM_047448052.1",
"protein_id": "XP_047304008.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 922,
"cds_start": 2235,
"cds_end": null,
"cds_length": 2769,
"cdna_start": 2509,
"cdna_end": null,
"cdna_length": 3129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM7",
"gene_hgnc_id": 4599,
"hgvs_c": "c.2235G>A",
"hgvs_p": "p.Gly745Gly",
"transcript": "XM_047448053.1",
"protein_id": "XP_047304009.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 824,
"cds_start": 2235,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 2509,
"cdna_end": null,
"cdna_length": 2996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM7",
"gene_hgnc_id": 4599,
"hgvs_c": "c.1737G>A",
"hgvs_p": "p.Gly579Gly",
"transcript": "XM_017006272.2",
"protein_id": "XP_016861761.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 756,
"cds_start": 1737,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 2050,
"cdna_end": null,
"cdna_length": 3782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"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": "GRM7",
"gene_hgnc_id": 4599,
"hgvs_c": "c.1737G>A",
"hgvs_p": "p.Gly579Gly",
"transcript": "XM_017006273.2",
"protein_id": "XP_016861762.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 749,
"cds_start": 1737,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2050,
"cdna_end": null,
"cdna_length": 3690,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM7",
"gene_hgnc_id": 4599,
"hgvs_c": "n.1439G>A",
"hgvs_p": null,
"transcript": "ENST00000458641.2",
"protein_id": null,
"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": 1937,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM7",
"gene_hgnc_id": 4599,
"hgvs_c": "n.750G>A",
"hgvs_p": null,
"transcript": "ENST00000706913.1",
"protein_id": "ENSP00000516622.1",
"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": 2295,
"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": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM7",
"gene_hgnc_id": 4599,
"hgvs_c": "n.2509G>A",
"hgvs_p": null,
"transcript": "XR_001740135.3",
"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": 3922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000270207",
"gene_hgnc_id": null,
"hgvs_c": "n.323-8794C>T",
"hgvs_p": null,
"transcript": "ENST00000751780.1",
"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": 671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GRM7",
"gene_hgnc_id": 4599,
"dbsnp": "rs1485174",
"frequency_reference_population": 0.26467574,
"hom_count_reference_population": 60565,
"allele_count_reference_population": 426769,
"gnomad_exomes_af": 0.268586,
"gnomad_genomes_af": 0.227099,
"gnomad_exomes_ac": 392259,
"gnomad_genomes_ac": 34510,
"gnomad_exomes_homalt": 55773,
"gnomad_genomes_homalt": 4792,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"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": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.142,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000357716.9",
"gene_symbol": "GRM7",
"hgnc_id": 4599,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2235G>A",
"hgvs_p": "p.Gly745Gly"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000751780.1",
"gene_symbol": "ENSG00000270207",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.323-8794C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}