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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: 7-36335091-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=36335091&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 36335091,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001199706.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Thr316Ala",
"transcript": "NM_001199706.2",
"protein_id": "NP_001186635.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 517,
"cds_start": 946,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 4462,
"mane_select": "ENST00000440378.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Thr316Ala",
"transcript": "ENST00000440378.6",
"protein_id": "ENSP00000390837.1",
"transcript_support_level": 1,
"aa_start": 316,
"aa_end": null,
"aa_length": 517,
"cds_start": 946,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 4462,
"mane_select": "NM_001199706.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "c.955A>G",
"hgvs_p": "p.Thr319Ala",
"transcript": "ENST00000297063.10",
"protein_id": "ENSP00000297063.6",
"transcript_support_level": 1,
"aa_start": 319,
"aa_end": null,
"aa_length": 520,
"cds_start": 955,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 4153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "c.916A>G",
"hgvs_p": "p.Thr306Ala",
"transcript": "ENST00000338533.9",
"protein_id": "ENSP00000344805.5",
"transcript_support_level": 1,
"aa_start": 306,
"aa_end": null,
"aa_length": 507,
"cds_start": 916,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 4132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "c.802A>G",
"hgvs_p": "p.Thr268Ala",
"transcript": "ENST00000317020.10",
"protein_id": "ENSP00000319251.6",
"transcript_support_level": 1,
"aa_start": 268,
"aa_end": null,
"aa_length": 469,
"cds_start": 802,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 4241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "c.955A>G",
"hgvs_p": "p.Thr319Ala",
"transcript": "NM_001100425.2",
"protein_id": "NP_001093895.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 520,
"cds_start": 955,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 4454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "c.916A>G",
"hgvs_p": "p.Thr306Ala",
"transcript": "NM_001199707.2",
"protein_id": "NP_001186636.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 507,
"cds_start": 916,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 4530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "c.802A>G",
"hgvs_p": "p.Thr268Ala",
"transcript": "NM_015314.3",
"protein_id": "NP_056129.2",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 469,
"cds_start": 802,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1102,
"cdna_end": null,
"cdna_length": 4318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "c.646A>G",
"hgvs_p": "p.Thr216Ala",
"transcript": "NM_001199708.2",
"protein_id": "NP_001186637.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 417,
"cds_start": 646,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 4267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "c.646A>G",
"hgvs_p": "p.Thr216Ala",
"transcript": "ENST00000436884.5",
"protein_id": "ENSP00000389985.1",
"transcript_support_level": 2,
"aa_start": 216,
"aa_end": null,
"aa_length": 417,
"cds_start": 646,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "c.220A>G",
"hgvs_p": "p.Thr74Ala",
"transcript": "NM_001300956.2",
"protein_id": "NP_001287885.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 275,
"cds_start": 220,
"cds_end": null,
"cds_length": 828,
"cdna_start": 362,
"cdna_end": null,
"cdna_length": 3578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "c.220A>G",
"hgvs_p": "p.Thr74Ala",
"transcript": "ENST00000453212.5",
"protein_id": "ENSP00000390183.1",
"transcript_support_level": 3,
"aa_start": 74,
"aa_end": null,
"aa_length": 275,
"cds_start": 220,
"cds_end": null,
"cds_length": 828,
"cdna_start": 293,
"cdna_end": null,
"cdna_length": 956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "c.220A>G",
"hgvs_p": "p.Thr74Ala",
"transcript": "ENST00000431396.1",
"protein_id": "ENSP00000399935.1",
"transcript_support_level": 4,
"aa_start": 74,
"aa_end": null,
"aa_length": 96,
"cds_start": 220,
"cds_end": null,
"cds_length": 292,
"cdna_start": 531,
"cdna_end": null,
"cdna_length": 603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "c.1060A>G",
"hgvs_p": "p.Thr354Ala",
"transcript": "XM_005249689.4",
"protein_id": "XP_005249746.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 555,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1458,
"cdna_end": null,
"cdna_length": 4674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "c.646A>G",
"hgvs_p": "p.Thr216Ala",
"transcript": "XM_024446701.2",
"protein_id": "XP_024302469.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 417,
"cds_start": 646,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 991,
"cdna_end": null,
"cdna_length": 4207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "c.502A>G",
"hgvs_p": "p.Thr168Ala",
"transcript": "XM_024446702.2",
"protein_id": "XP_024302470.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 369,
"cds_start": 502,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 907,
"cdna_end": null,
"cdna_length": 4123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "c.220A>G",
"hgvs_p": "p.Thr74Ala",
"transcript": "XM_005249690.5",
"protein_id": "XP_005249747.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 275,
"cds_start": 220,
"cds_end": null,
"cds_length": 828,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 3773,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "n.390A>G",
"hgvs_p": null,
"transcript": "ENST00000480192.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 741,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "n.208A>G",
"hgvs_p": null,
"transcript": "ENST00000483360.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 560,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "n.414A>G",
"hgvs_p": null,
"transcript": "ENST00000483526.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"dbsnp": null,
"frequency_reference_population": 0.0000020524046,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.0000020524,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2968129515647888,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.346,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0826,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.862,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001199706.2",
"gene_symbol": "MATCAP2",
"hgnc_id": 22206,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Thr316Ala"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}