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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: 12-57516491-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57516491&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "MARS1",
"hgnc_id": 6898,
"hgvs_c": "c.2613G>A",
"hgvs_p": "p.Ala871Ala",
"inheritance_mode": "AD,AR,Unknown",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_004990.4",
"verdict": "Benign"
},
{
"benign_score": 16,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "DDIT3",
"hgnc_id": 2726,
"hgvs_c": "c.*318C>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -16,
"transcript": "NM_001195053.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7",
"acmg_score": -13,
"allele_count_reference_population": 123,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.63,
"chr": "12",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Charcot-Marie-Tooth disease axonal type 2U,Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6299999952316284,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 900,
"aa_ref": "A",
"aa_start": 871,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2797,
"cdna_start": 2636,
"cds_end": null,
"cds_length": 2703,
"cds_start": 2613,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_004990.4",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.2613G>A",
"hgvs_p": "p.Ala871Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262027.10",
"protein_coding": true,
"protein_id": "NP_004981.2",
"strand": true,
"transcript": "NM_004990.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 900,
"aa_ref": "A",
"aa_start": 871,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2797,
"cdna_start": 2636,
"cds_end": null,
"cds_length": 2703,
"cds_start": 2613,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000262027.10",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.2613G>A",
"hgvs_p": "p.Ala871Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004990.4",
"protein_coding": true,
"protein_id": "ENSP00000262027.5",
"strand": true,
"transcript": "ENST00000262027.10",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 941,
"aa_ref": "A",
"aa_start": 912,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2957,
"cdna_start": 2795,
"cds_end": null,
"cds_length": 2826,
"cds_start": 2736,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000948582.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.2736G>A",
"hgvs_p": "p.Ala912Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618641.1",
"strand": true,
"transcript": "ENST00000948582.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 934,
"aa_ref": "A",
"aa_start": 905,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2892,
"cdna_start": 2732,
"cds_end": null,
"cds_length": 2805,
"cds_start": 2715,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000948584.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.2715G>A",
"hgvs_p": "p.Ala905Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618643.1",
"strand": true,
"transcript": "ENST00000948584.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 925,
"aa_ref": "A",
"aa_start": 896,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2867,
"cdna_start": 2708,
"cds_end": null,
"cds_length": 2778,
"cds_start": 2688,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000948583.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.2688G>A",
"hgvs_p": "p.Ala896Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618642.1",
"strand": true,
"transcript": "ENST00000948583.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 914,
"aa_ref": "A",
"aa_start": 885,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2934,
"cdna_start": 2775,
"cds_end": null,
"cds_length": 2745,
"cds_start": 2655,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000916094.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.2655G>A",
"hgvs_p": "p.Ala885Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586153.1",
"strand": true,
"transcript": "ENST00000916094.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 899,
"aa_ref": "A",
"aa_start": 870,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2802,
"cdna_start": 2645,
"cds_end": null,
"cds_length": 2700,
"cds_start": 2610,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000906525.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.2610G>A",
"hgvs_p": "p.Ala870Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576584.1",
"strand": true,
"transcript": "ENST00000906525.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 899,
"aa_ref": "A",
"aa_start": 870,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2792,
"cdna_start": 2633,
"cds_end": null,
"cds_length": 2700,
"cds_start": 2610,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000906528.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.2610G>A",
"hgvs_p": "p.Ala870Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576587.1",
"strand": true,
"transcript": "ENST00000906528.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 899,
"aa_ref": "A",
"aa_start": 870,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2787,
"cdna_start": 2630,
"cds_end": null,
"cds_length": 2700,
"cds_start": 2610,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000906530.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.2610G>A",
"hgvs_p": "p.Ala870Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576589.1",
"strand": true,
"transcript": "ENST00000906530.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 898,
"aa_ref": "A",
"aa_start": 869,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2789,
"cdna_start": 2630,
"cds_end": null,
"cds_length": 2697,
"cds_start": 2607,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000916098.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.2607G>A",
"hgvs_p": "p.Ala869Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586157.1",
"strand": true,
"transcript": "ENST00000916098.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 875,
"aa_ref": "A",
"aa_start": 846,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2722,
"cdna_start": 2558,
"cds_end": null,
"cds_length": 2628,
"cds_start": 2538,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000916097.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.2538G>A",
"hgvs_p": "p.Ala846Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586156.1",
"strand": true,
"transcript": "ENST00000916097.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 868,
"aa_ref": "A",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2704,
"cdna_start": 2540,
"cds_end": null,
"cds_length": 2607,
"cds_start": 2517,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000906526.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.2517G>A",
"hgvs_p": "p.Ala839Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576585.1",
"strand": true,
"transcript": "ENST00000906526.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 868,
"aa_ref": "A",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2705,
"cdna_start": 2541,
"cds_end": null,
"cds_length": 2607,
"cds_start": 2517,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000916095.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.2517G>A",
"hgvs_p": "p.Ala839Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586154.1",
"strand": true,
"transcript": "ENST00000916095.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 865,
"aa_ref": "A",
"aa_start": 836,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2690,
"cdna_start": 2528,
"cds_end": null,
"cds_length": 2598,
"cds_start": 2508,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000916099.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.2508G>A",
"hgvs_p": "p.Ala836Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586158.1",
"strand": true,
"transcript": "ENST00000916099.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 855,
"aa_ref": "A",
"aa_start": 826,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2659,
"cdna_start": 2498,
"cds_end": null,
"cds_length": 2568,
"cds_start": 2478,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000906529.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.2478G>A",
"hgvs_p": "p.Ala826Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576588.1",
"strand": true,
"transcript": "ENST00000906529.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 823,
"aa_ref": "A",
"aa_start": 794,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2567,
"cdna_start": 2405,
"cds_end": null,
"cds_length": 2472,
"cds_start": 2382,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000916096.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.2382G>A",
"hgvs_p": "p.Ala794Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586155.1",
"strand": true,
"transcript": "ENST00000916096.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 818,
"aa_ref": "A",
"aa_start": 789,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2552,
"cdna_start": 2390,
"cds_end": null,
"cds_length": 2457,
"cds_start": 2367,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000906527.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.2367G>A",
"hgvs_p": "p.Ala789Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576586.1",
"strand": true,
"transcript": "ENST00000906527.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 219,
"aa_ref": "A",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 734,
"cdna_start": 570,
"cds_end": null,
"cds_length": 660,
"cds_start": 570,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000552914.5",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.570G>A",
"hgvs_p": "p.Ala190Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000449787.1",
"strand": true,
"transcript": "ENST00000552914.5",
"transcript_support_level": 3
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 666,
"aa_ref": "A",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2352,
"cdna_start": 2191,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1911,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047428851.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.1911G>A",
"hgvs_p": "p.Ala637Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284807.1",
"strand": true,
"transcript": "XM_047428851.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 118,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 670,
"cdna_start": null,
"cds_end": null,
"cds_length": 357,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000547665.5",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.*148G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000448910.1",
"strand": true,
"transcript": "ENST00000547665.5",
"transcript_support_level": 2
},
{
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"gnomad_exomes_af": 0.0000793652,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 7,
"gnomad_genomes_af": 0.0000459994,
"gnomad_genomes_homalt": 0,
"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": "Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency;Charcot-Marie-Tooth disease axonal type 2U|not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": -3.218,
"pos": 57516491,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_004990.4"
}
]
}