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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: 7-127242848-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=127242848&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 127242848,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000339582.7",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Phe119Phe",
"transcript": "NM_000845.3",
"protein_id": "NP_000836.2",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 908,
"cds_start": 357,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 3704,
"mane_select": "ENST00000339582.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Phe119Phe",
"transcript": "ENST00000339582.7",
"protein_id": "ENSP00000344173.2",
"transcript_support_level": 5,
"aa_start": 119,
"aa_end": null,
"aa_length": 908,
"cds_start": 357,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 3704,
"mane_select": "NM_000845.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Phe119Phe",
"transcript": "ENST00000358373.8",
"protein_id": "ENSP00000351142.3",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 908,
"cds_start": 357,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 795,
"cdna_end": null,
"cdna_length": 3741,
"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": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "n.357C>T",
"hgvs_p": null,
"transcript": "ENST00000341617.7",
"protein_id": "ENSP00000345747.3",
"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": 3240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Phe119Phe",
"transcript": "NM_001371086.1",
"protein_id": "NP_001358015.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 928,
"cds_start": 357,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 795,
"cdna_end": null,
"cdna_length": 3723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Phe119Phe",
"transcript": "ENST00000706915.1",
"protein_id": "ENSP00000516623.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 928,
"cds_start": 357,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 3847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Phe119Phe",
"transcript": "NM_001127323.1",
"protein_id": "NP_001120795.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 908,
"cds_start": 357,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 3860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Phe119Phe",
"transcript": "NM_001371083.1",
"protein_id": "NP_001358012.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 908,
"cds_start": 357,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 3808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Phe119Phe",
"transcript": "NM_001371084.1",
"protein_id": "NP_001358013.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 908,
"cds_start": 357,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 795,
"cdna_end": null,
"cdna_length": 3686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Phe119Phe",
"transcript": "NM_001371085.1",
"protein_id": "NP_001358014.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 908,
"cds_start": 357,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 3759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Phe119Phe",
"transcript": "ENST00000706916.1",
"protein_id": "ENSP00000516624.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 908,
"cds_start": 357,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 3759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Phe119Phe",
"transcript": "ENST00000706917.1",
"protein_id": "ENSP00000516625.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 908,
"cds_start": 357,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 3634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Phe119Phe",
"transcript": "NM_001371088.1",
"protein_id": "NP_001358017.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 456,
"cds_start": 357,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 795,
"cdna_end": null,
"cdna_length": 3570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Phe119Phe",
"transcript": "ENST00000457830.1",
"protein_id": "ENSP00000415522.1",
"transcript_support_level": 5,
"aa_start": 119,
"aa_end": null,
"aa_length": 292,
"cds_start": 357,
"cds_end": null,
"cds_length": 881,
"cdna_start": 723,
"cdna_end": null,
"cdna_length": 1247,
"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": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "n.357C>T",
"hgvs_p": null,
"transcript": "ENST00000472701.5",
"protein_id": "ENSP00000419832.1",
"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": 3650,
"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": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "n.668C>T",
"hgvs_p": null,
"transcript": "NR_028041.1",
"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": 3630,
"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": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "n.813C>T",
"hgvs_p": null,
"transcript": "NR_163849.1",
"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": 3977,
"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": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "n.813C>T",
"hgvs_p": null,
"transcript": "XR_007060010.1",
"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": 2239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "c.-106+9949C>T",
"hgvs_p": null,
"transcript": "NM_001371087.1",
"protein_id": "NP_001358016.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 703,
"cds_start": -4,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2883,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"hgvs_c": "n.145+9949C>T",
"hgvs_p": null,
"transcript": "NR_163850.1",
"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": 2942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GRM8",
"gene_hgnc_id": 4600,
"dbsnp": "rs769200",
"frequency_reference_population": 0.0031572243,
"hom_count_reference_population": 83,
"allele_count_reference_population": 5096,
"gnomad_exomes_af": 0.0021035,
"gnomad_genomes_af": 0.0132765,
"gnomad_exomes_ac": 3075,
"gnomad_genomes_ac": 2021,
"gnomad_exomes_homalt": 42,
"gnomad_genomes_homalt": 41,
"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": 0.10000000149011612,
"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": 0.154,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.1,
"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,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000339582.7",
"gene_symbol": "GRM8",
"hgnc_id": 4600,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Phe119Phe"
}
],
"clinvar_disease": "GRM8-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided|GRM8-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}