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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: 12-57515336-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57515336&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"BP4_Moderate",
"BP6",
"BS1"
],
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"gene_symbol": "MARS1",
"hgnc_id": 6898,
"hgvs_c": "c.2391A>C",
"hgvs_p": "p.Thr797Thr",
"inheritance_mode": "AD,AR,Unknown",
"pathogenic_score": 0,
"score": -7,
"transcript": "NM_004990.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS1",
"acmg_score": -7,
"allele_count_reference_population": 1300,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"chr": "12",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Charcot-Marie-Tooth disease,Charcot-Marie-Tooth disease axonal type 2U,MARS1-related disorder,Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.03099999949336052,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 900,
"aa_ref": "T",
"aa_start": 797,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2797,
"cdna_start": 2414,
"cds_end": null,
"cds_length": 2703,
"cds_start": 2391,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_004990.4",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.2391A>C",
"hgvs_p": "p.Thr797Thr",
"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": "T",
"aa_end": null,
"aa_length": 900,
"aa_ref": "T",
"aa_start": 797,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2797,
"cdna_start": 2414,
"cds_end": null,
"cds_length": 2703,
"cds_start": 2391,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000262027.10",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.2391A>C",
"hgvs_p": "p.Thr797Thr",
"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": null,
"aa_end": null,
"aa_length": 95,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2583,
"cdna_start": null,
"cds_end": null,
"cds_length": 288,
"cds_start": null,
"consequences": [
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000628866.2",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.*1892A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486738.1",
"strand": true,
"transcript": "ENST00000628866.2",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 941,
"aa_ref": "T",
"aa_start": 838,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2957,
"cdna_start": 2573,
"cds_end": null,
"cds_length": 2826,
"cds_start": 2514,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000948582.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.2514A>C",
"hgvs_p": "p.Thr838Thr",
"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": "T",
"aa_end": null,
"aa_length": 934,
"aa_ref": "T",
"aa_start": 831,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2892,
"cdna_start": 2510,
"cds_end": null,
"cds_length": 2805,
"cds_start": 2493,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000948584.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.2493A>C",
"hgvs_p": "p.Thr831Thr",
"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": "T",
"aa_end": null,
"aa_length": 925,
"aa_ref": "T",
"aa_start": 822,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2867,
"cdna_start": 2486,
"cds_end": null,
"cds_length": 2778,
"cds_start": 2466,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000948583.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.2466A>C",
"hgvs_p": "p.Thr822Thr",
"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": "T",
"aa_end": null,
"aa_length": 914,
"aa_ref": "T",
"aa_start": 797,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2934,
"cdna_start": 2511,
"cds_end": null,
"cds_length": 2745,
"cds_start": 2391,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000916094.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.2391A>C",
"hgvs_p": "p.Thr797Thr",
"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": "T",
"aa_end": null,
"aa_length": 899,
"aa_ref": "T",
"aa_start": 796,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2802,
"cdna_start": 2423,
"cds_end": null,
"cds_length": 2700,
"cds_start": 2388,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000906525.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.2388A>C",
"hgvs_p": "p.Thr796Thr",
"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": "T",
"aa_end": null,
"aa_length": 899,
"aa_ref": "T",
"aa_start": 796,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2792,
"cdna_start": 2411,
"cds_end": null,
"cds_length": 2700,
"cds_start": 2388,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000906528.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.2388A>C",
"hgvs_p": "p.Thr796Thr",
"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": "T",
"aa_end": null,
"aa_length": 899,
"aa_ref": "T",
"aa_start": 796,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2787,
"cdna_start": 2408,
"cds_end": null,
"cds_length": 2700,
"cds_start": 2388,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000906530.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.2388A>C",
"hgvs_p": "p.Thr796Thr",
"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": "T",
"aa_end": null,
"aa_length": 898,
"aa_ref": "T",
"aa_start": 795,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2789,
"cdna_start": 2408,
"cds_end": null,
"cds_length": 2697,
"cds_start": 2385,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000916098.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.2385A>C",
"hgvs_p": "p.Thr795Thr",
"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": "T",
"aa_end": null,
"aa_length": 875,
"aa_ref": "T",
"aa_start": 772,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2722,
"cdna_start": 2336,
"cds_end": null,
"cds_length": 2628,
"cds_start": 2316,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000916097.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.2316A>C",
"hgvs_p": "p.Thr772Thr",
"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": "T",
"aa_end": null,
"aa_length": 868,
"aa_ref": "T",
"aa_start": 765,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2704,
"cdna_start": 2318,
"cds_end": null,
"cds_length": 2607,
"cds_start": 2295,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000906526.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.2295A>C",
"hgvs_p": "p.Thr765Thr",
"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": "T",
"aa_end": null,
"aa_length": 868,
"aa_ref": "T",
"aa_start": 796,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2705,
"cdna_start": 2412,
"cds_end": null,
"cds_length": 2607,
"cds_start": 2388,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000916095.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.2388A>C",
"hgvs_p": "p.Thr796Thr",
"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": "T",
"aa_end": null,
"aa_length": 855,
"aa_ref": "T",
"aa_start": 752,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2659,
"cdna_start": 2276,
"cds_end": null,
"cds_length": 2568,
"cds_start": 2256,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000906529.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.2256A>C",
"hgvs_p": "p.Thr752Thr",
"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": "T",
"aa_end": null,
"aa_length": 818,
"aa_ref": "T",
"aa_start": 715,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2552,
"cdna_start": 2168,
"cds_end": null,
"cds_length": 2457,
"cds_start": 2145,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000906527.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.2145A>C",
"hgvs_p": "p.Thr715Thr",
"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": "T",
"aa_end": null,
"aa_length": 219,
"aa_ref": "T",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 734,
"cdna_start": 348,
"cds_end": null,
"cds_length": 660,
"cds_start": 348,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000552914.5",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.348A>C",
"hgvs_p": "p.Thr116Thr",
"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": "T",
"aa_end": null,
"aa_length": 118,
"aa_ref": "T",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 670,
"cdna_start": 187,
"cds_end": null,
"cds_length": 357,
"cds_start": 186,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000547665.5",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.186A>C",
"hgvs_p": "p.Thr62Thr",
"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
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 666,
"aa_ref": "T",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2352,
"cdna_start": 1969,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1689,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047428851.1",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.1689A>C",
"hgvs_p": "p.Thr563Thr",
"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": 95,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2583,
"cdna_start": null,
"cds_end": null,
"cds_length": 288,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000628866.2",
"gene_hgnc_id": 6898,
"gene_symbol": "MARS1",
"hgvs_c": "c.*1892A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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