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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: 15-82151809-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=82151809&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 82151809,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000268206.12",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "c.2645T>C",
"hgvs_p": "p.Met882Thr",
"transcript": "NM_024580.6",
"protein_id": "NP_078856.4",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 1120,
"cds_start": 2645,
"cds_end": null,
"cds_length": 3363,
"cdna_start": 2785,
"cdna_end": null,
"cdna_length": 3643,
"mane_select": "ENST00000268206.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "c.2645T>C",
"hgvs_p": "p.Met882Thr",
"transcript": "ENST00000268206.12",
"protein_id": "ENSP00000268206.7",
"transcript_support_level": 1,
"aa_start": 882,
"aa_end": null,
"aa_length": 1120,
"cds_start": 2645,
"cds_end": null,
"cds_length": 3363,
"cdna_start": 2785,
"cdna_end": null,
"cdna_length": 3643,
"mane_select": "NM_024580.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "c.2492T>C",
"hgvs_p": "p.Met831Thr",
"transcript": "ENST00000359445.8",
"protein_id": "ENSP00000352418.3",
"transcript_support_level": 1,
"aa_start": 831,
"aa_end": null,
"aa_length": 1069,
"cds_start": 2492,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 2671,
"cdna_end": null,
"cdna_length": 3556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "c.2645T>C",
"hgvs_p": "p.Met882Thr",
"transcript": "NM_001322845.2",
"protein_id": "NP_001309774.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 1120,
"cds_start": 2645,
"cds_end": null,
"cds_length": 3363,
"cdna_start": 3056,
"cdna_end": null,
"cdna_length": 3914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "c.2645T>C",
"hgvs_p": "p.Met882Thr",
"transcript": "ENST00000696330.1",
"protein_id": "ENSP00000512564.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 1120,
"cds_start": 2645,
"cds_end": null,
"cds_length": 3363,
"cdna_start": 3051,
"cdna_end": null,
"cdna_length": 3924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "c.2507T>C",
"hgvs_p": "p.Met836Thr",
"transcript": "ENST00000557939.2",
"protein_id": "ENSP00000452825.2",
"transcript_support_level": 5,
"aa_start": 836,
"aa_end": null,
"aa_length": 1074,
"cds_start": 2507,
"cds_end": null,
"cds_length": 3225,
"cdna_start": 2608,
"cdna_end": null,
"cdna_length": 3326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "c.2492T>C",
"hgvs_p": "p.Met831Thr",
"transcript": "NM_001040610.3",
"protein_id": "NP_001035700.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 1069,
"cds_start": 2492,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 2632,
"cdna_end": null,
"cdna_length": 3490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "c.1856T>C",
"hgvs_p": "p.Met619Thr",
"transcript": "NM_001322844.2",
"protein_id": "NP_001309773.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 857,
"cds_start": 1856,
"cds_end": null,
"cds_length": 2574,
"cdna_start": 2700,
"cdna_end": null,
"cdna_length": 3558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "c.908T>C",
"hgvs_p": "p.Met303Thr",
"transcript": "ENST00000696327.1",
"protein_id": "ENSP00000512563.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 541,
"cds_start": 908,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 985,
"cdna_end": null,
"cdna_length": 1843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "c.758T>C",
"hgvs_p": "p.Met253Thr",
"transcript": "ENST00000561340.2",
"protein_id": "ENSP00000512528.1",
"transcript_support_level": 3,
"aa_start": 253,
"aa_end": null,
"aa_length": 491,
"cds_start": 758,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 928,
"cdna_end": null,
"cdna_length": 1801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "c.1037T>C",
"hgvs_p": "p.Met346Thr",
"transcript": "XM_024450048.2",
"protein_id": "XP_024305816.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 584,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 5012,
"cdna_end": null,
"cdna_length": 5870,
"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": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "n.2026T>C",
"hgvs_p": null,
"transcript": "ENST00000561331.2",
"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": 2744,
"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": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "n.*2383T>C",
"hgvs_p": null,
"transcript": "ENST00000561389.2",
"protein_id": "ENSP00000452687.1",
"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": 3508,
"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": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "n.*1551T>C",
"hgvs_p": null,
"transcript": "ENST00000650113.1",
"protein_id": "ENSP00000497919.1",
"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": 3546,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "n.2229T>C",
"hgvs_p": null,
"transcript": "ENST00000696329.1",
"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": 3060,
"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": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "n.2645T>C",
"hgvs_p": null,
"transcript": "ENST00000696336.1",
"protein_id": "ENSP00000512568.1",
"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": 3638,
"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": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "n.2458T>C",
"hgvs_p": null,
"transcript": "ENST00000696337.1",
"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": 3307,
"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": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "n.2785T>C",
"hgvs_p": null,
"transcript": "NR_136410.2",
"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": 3657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "n.*2383T>C",
"hgvs_p": null,
"transcript": "ENST00000561389.2",
"protein_id": "ENSP00000452687.1",
"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": 3508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "n.*1551T>C",
"hgvs_p": null,
"transcript": "ENST00000650113.1",
"protein_id": "ENSP00000497919.1",
"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": 3546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"dbsnp": "rs1316615934",
"frequency_reference_population": 0.0000013681014,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000013681,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8418129682540894,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.418,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4082,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.855,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000268206.12",
"gene_symbol": "EFL1",
"hgnc_id": 25789,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2645T>C",
"hgvs_p": "p.Met882Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}