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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: 7-39690405-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=39690405&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "RALA",
"hgnc_id": 9839,
"hgvs_c": "c.138C>G",
"hgvs_p": "p.Thr46Thr",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_005402.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_score": -3,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"chr": "7",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.46000000834465027,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 206,
"aa_ref": "T",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2787,
"cdna_start": 429,
"cds_end": null,
"cds_length": 621,
"cds_start": 138,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_005402.4",
"gene_hgnc_id": 9839,
"gene_symbol": "RALA",
"hgvs_c": "c.138C>G",
"hgvs_p": "p.Thr46Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000005257.7",
"protein_coding": true,
"protein_id": "NP_005393.2",
"strand": true,
"transcript": "NM_005402.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 206,
"aa_ref": "T",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2787,
"cdna_start": 429,
"cds_end": null,
"cds_length": 621,
"cds_start": 138,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000005257.7",
"gene_hgnc_id": 9839,
"gene_symbol": "RALA",
"hgvs_c": "c.138C>G",
"hgvs_p": "p.Thr46Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005402.4",
"protein_coding": true,
"protein_id": "ENSP00000005257.2",
"strand": true,
"transcript": "ENST00000005257.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 206,
"aa_ref": "T",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2983,
"cdna_start": 621,
"cds_end": null,
"cds_length": 621,
"cds_start": 138,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000860175.1",
"gene_hgnc_id": 9839,
"gene_symbol": "RALA",
"hgvs_c": "c.138C>G",
"hgvs_p": "p.Thr46Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530234.1",
"strand": true,
"transcript": "ENST00000860175.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 206,
"aa_ref": "T",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2873,
"cdna_start": 511,
"cds_end": null,
"cds_length": 621,
"cds_start": 138,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000860176.1",
"gene_hgnc_id": 9839,
"gene_symbol": "RALA",
"hgvs_c": "c.138C>G",
"hgvs_p": "p.Thr46Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530235.1",
"strand": true,
"transcript": "ENST00000860176.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 206,
"aa_ref": "T",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2889,
"cdna_start": 531,
"cds_end": null,
"cds_length": 621,
"cds_start": 138,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000860177.1",
"gene_hgnc_id": 9839,
"gene_symbol": "RALA",
"hgvs_c": "c.138C>G",
"hgvs_p": "p.Thr46Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530236.1",
"strand": true,
"transcript": "ENST00000860177.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 206,
"aa_ref": "T",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2863,
"cdna_start": 508,
"cds_end": null,
"cds_length": 621,
"cds_start": 138,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000860178.1",
"gene_hgnc_id": 9839,
"gene_symbol": "RALA",
"hgvs_c": "c.138C>G",
"hgvs_p": "p.Thr46Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530237.1",
"strand": true,
"transcript": "ENST00000860178.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 206,
"aa_ref": "T",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1321,
"cdna_start": 782,
"cds_end": null,
"cds_length": 621,
"cds_start": 138,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000860179.1",
"gene_hgnc_id": 9839,
"gene_symbol": "RALA",
"hgvs_c": "c.138C>G",
"hgvs_p": "p.Thr46Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530238.1",
"strand": true,
"transcript": "ENST00000860179.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 206,
"aa_ref": "T",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1362,
"cdna_start": 823,
"cds_end": null,
"cds_length": 621,
"cds_start": 138,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000860180.1",
"gene_hgnc_id": 9839,
"gene_symbol": "RALA",
"hgvs_c": "c.138C>G",
"hgvs_p": "p.Thr46Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530239.1",
"strand": true,
"transcript": "ENST00000860180.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 206,
"aa_ref": "T",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2794,
"cdna_start": 434,
"cds_end": null,
"cds_length": 621,
"cds_start": 138,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000919558.1",
"gene_hgnc_id": 9839,
"gene_symbol": "RALA",
"hgvs_c": "c.138C>G",
"hgvs_p": "p.Thr46Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589617.1",
"strand": true,
"transcript": "ENST00000919558.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 206,
"aa_ref": "T",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2874,
"cdna_start": 521,
"cds_end": null,
"cds_length": 621,
"cds_start": 138,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000919559.1",
"gene_hgnc_id": 9839,
"gene_symbol": "RALA",
"hgvs_c": "c.138C>G",
"hgvs_p": "p.Thr46Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589618.1",
"strand": true,
"transcript": "ENST00000919559.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 206,
"aa_ref": "T",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2923,
"cdna_start": 568,
"cds_end": null,
"cds_length": 621,
"cds_start": 138,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000957819.1",
"gene_hgnc_id": 9839,
"gene_symbol": "RALA",
"hgvs_c": "c.138C>G",
"hgvs_p": "p.Thr46Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627878.1",
"strand": true,
"transcript": "ENST00000957819.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 206,
"aa_ref": "T",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3531,
"cdna_start": 1177,
"cds_end": null,
"cds_length": 621,
"cds_start": 138,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000957820.1",
"gene_hgnc_id": 9839,
"gene_symbol": "RALA",
"hgvs_c": "c.138C>G",
"hgvs_p": "p.Thr46Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627879.1",
"strand": true,
"transcript": "ENST00000957820.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 206,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2726,
"cdna_start": 372,
"cds_end": null,
"cds_length": 621,
"cds_start": 138,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000957821.1",
"gene_hgnc_id": 9839,
"gene_symbol": "RALA",
"hgvs_c": "c.138C>G",
"hgvs_p": "p.Thr46Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627880.1",
"strand": true,
"transcript": "ENST00000957821.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 206,
"aa_ref": "T",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2647,
"cdna_start": 625,
"cds_end": null,
"cds_length": 621,
"cds_start": 138,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000957822.1",
"gene_hgnc_id": 9839,
"gene_symbol": "RALA",
"hgvs_c": "c.138C>G",
"hgvs_p": "p.Thr46Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627881.1",
"strand": true,
"transcript": "ENST00000957822.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 206,
"aa_ref": "T",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3132,
"cdna_start": 779,
"cds_end": null,
"cds_length": 621,
"cds_start": 138,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000957823.1",
"gene_hgnc_id": 9839,
"gene_symbol": "RALA",
"hgvs_c": "c.138C>G",
"hgvs_p": "p.Thr46Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627882.1",
"strand": true,
"transcript": "ENST00000957823.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 100,
"aa_ref": "T",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 882,
"cdna_start": 717,
"cds_end": null,
"cds_length": 303,
"cds_start": 138,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000436179.1",
"gene_hgnc_id": 9839,
"gene_symbol": "RALA",
"hgvs_c": "c.138C>G",
"hgvs_p": "p.Thr46Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388975.1",
"strand": true,
"transcript": "ENST00000436179.1",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 206,
"aa_ref": "T",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2634,
"cdna_start": 276,
"cds_end": null,
"cds_length": 621,
"cds_start": 138,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047420681.1",
"gene_hgnc_id": 9839,
"gene_symbol": "RALA",
"hgvs_c": "c.138C>G",
"hgvs_p": "p.Thr46Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276637.1",
"strand": true,
"transcript": "XM_047420681.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 206,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 36182,
"cdna_start": 33824,
"cds_end": null,
"cds_length": 621,
"cds_start": 138,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047420682.1",
"gene_hgnc_id": 9839,
"gene_symbol": "RALA",
"hgvs_c": "c.138C>G",
"hgvs_p": "p.Thr46Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276638.1",
"strand": true,
"transcript": "XM_047420682.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 768,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000434466.1",
"gene_hgnc_id": 9839,
"gene_symbol": "RALA",
"hgvs_c": "n.117C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000413227.1",
"strand": true,
"transcript": "ENST00000434466.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 705,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000468201.1",
"gene_hgnc_id": 9839,
"gene_symbol": "RALA",
"hgvs_c": "n.262-6280C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000468201.1",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2116081899",
"effect": "synonymous_variant",
"frequency_reference_population": 0.0000013684215,
"gene_hgnc_id": 9839,
"gene_symbol": "RALA",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000136842,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.194,
"pos": 39690405,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.03999999910593033,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.04,
"transcript": "NM_005402.4"
}
]
}