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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: 6-33778319-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=33778319&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 33778319,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_181336.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEMD2",
"gene_hgnc_id": 21244,
"hgvs_c": "c.1079A>G",
"hgvs_p": "p.His360Arg",
"transcript": "NM_181336.4",
"protein_id": "NP_851853.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 503,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1093,
"cdna_end": null,
"cdna_length": 2941,
"mane_select": "ENST00000293760.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181336.4"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEMD2",
"gene_hgnc_id": 21244,
"hgvs_c": "c.1079A>G",
"hgvs_p": "p.His360Arg",
"transcript": "ENST00000293760.10",
"protein_id": "ENSP00000293760.5",
"transcript_support_level": 1,
"aa_start": 360,
"aa_end": null,
"aa_length": 503,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1093,
"cdna_end": null,
"cdna_length": 2941,
"mane_select": "NM_181336.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000293760.10"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEMD2",
"gene_hgnc_id": 21244,
"hgvs_c": "n.269A>G",
"hgvs_p": null,
"transcript": "ENST00000510598.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 563,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000510598.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEMD2",
"gene_hgnc_id": 21244,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.His366Arg",
"transcript": "ENST00000967488.1",
"protein_id": "ENSP00000637547.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 509,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 2780,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967488.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEMD2",
"gene_hgnc_id": 21244,
"hgvs_c": "c.1079A>G",
"hgvs_p": "p.His360Arg",
"transcript": "ENST00000967487.1",
"protein_id": "ENSP00000637546.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 469,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 2853,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967487.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"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": "LEMD2",
"gene_hgnc_id": 21244,
"hgvs_c": "c.926A>G",
"hgvs_p": "p.His309Arg",
"transcript": "ENST00000967489.1",
"protein_id": "ENSP00000637548.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 452,
"cds_start": 926,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 2608,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967489.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEMD2",
"gene_hgnc_id": 21244,
"hgvs_c": "c.680A>G",
"hgvs_p": "p.His227Arg",
"transcript": "NM_001348710.2",
"protein_id": "NP_001335639.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 370,
"cds_start": 680,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 694,
"cdna_end": null,
"cdna_length": 2542,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348710.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"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": "LEMD2",
"gene_hgnc_id": 21244,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.His164Arg",
"transcript": "ENST00000924030.1",
"protein_id": "ENSP00000594089.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 307,
"cds_start": 491,
"cds_end": null,
"cds_length": 924,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 2169,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924030.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEMD2",
"gene_hgnc_id": 21244,
"hgvs_c": "c.674A>G",
"hgvs_p": "p.His225Arg",
"transcript": "ENST00000442696.6",
"protein_id": "ENSP00000408524.2",
"transcript_support_level": 5,
"aa_start": 225,
"aa_end": null,
"aa_length": 278,
"cds_start": 674,
"cds_end": null,
"cds_length": 837,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 839,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442696.6"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEMD2",
"gene_hgnc_id": 21244,
"hgvs_c": "c.173A>G",
"hgvs_p": "p.His58Arg",
"transcript": "NM_001143944.1",
"protein_id": "NP_001137416.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 201,
"cds_start": 173,
"cds_end": null,
"cds_length": 606,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 2359,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143944.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEMD2",
"gene_hgnc_id": 21244,
"hgvs_c": "c.173A>G",
"hgvs_p": "p.His58Arg",
"transcript": "NM_001348709.2",
"protein_id": "NP_001335638.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 201,
"cds_start": 173,
"cds_end": null,
"cds_length": 606,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 2547,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348709.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEMD2",
"gene_hgnc_id": 21244,
"hgvs_c": "c.173A>G",
"hgvs_p": "p.His58Arg",
"transcript": "ENST00000508327.5",
"protein_id": "ENSP00000421704.1",
"transcript_support_level": 2,
"aa_start": 58,
"aa_end": null,
"aa_length": 201,
"cds_start": 173,
"cds_end": null,
"cds_length": 606,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 1306,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508327.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEMD2",
"gene_hgnc_id": 21244,
"hgvs_c": "c.20A>G",
"hgvs_p": "p.His7Arg",
"transcript": "ENST00000504692.1",
"protein_id": "ENSP00000421112.1",
"transcript_support_level": 3,
"aa_start": 7,
"aa_end": null,
"aa_length": 101,
"cds_start": 20,
"cds_end": null,
"cds_length": 306,
"cdna_start": 21,
"cdna_end": null,
"cdna_length": 643,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504692.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEMD2",
"gene_hgnc_id": 21244,
"hgvs_c": "n.*340A>G",
"hgvs_p": null,
"transcript": "ENST00000421671.6",
"protein_id": "ENSP00000398733.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2323,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000421671.6"
},
{
"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": "LEMD2",
"gene_hgnc_id": 21244,
"hgvs_c": "n.359A>G",
"hgvs_p": null,
"transcript": "ENST00000502643.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000502643.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEMD2",
"gene_hgnc_id": 21244,
"hgvs_c": "n.3031A>G",
"hgvs_p": null,
"transcript": "ENST00000511171.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4870,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000511171.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEMD2",
"gene_hgnc_id": 21244,
"hgvs_c": "n.544A>G",
"hgvs_p": null,
"transcript": "ENST00000512368.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 544,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000512368.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEMD2",
"gene_hgnc_id": 21244,
"hgvs_c": "n.620A>G",
"hgvs_p": null,
"transcript": "ENST00000513832.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 821,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000513832.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEMD2",
"gene_hgnc_id": 21244,
"hgvs_c": "n.*340A>G",
"hgvs_p": null,
"transcript": "ENST00000421671.6",
"protein_id": "ENSP00000398733.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2323,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000421671.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEMD2",
"gene_hgnc_id": 21244,
"hgvs_c": "c.*12A>G",
"hgvs_p": null,
"transcript": "ENST00000513701.1",
"protein_id": "ENSP00000423619.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 52,
"cds_start": null,
"cds_end": null,
"cds_length": 161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 555,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513701.1"
}
],
"gene_symbol": "LEMD2",
"gene_hgnc_id": 21244,
"dbsnp": "rs1582255510",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07024076581001282,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.062,
"revel_prediction": "Benign",
"alphamissense_score": 0.0574,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.537,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_181336.4",
"gene_symbol": "LEMD2",
"hgnc_id": 21244,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1079A>G",
"hgvs_p": "p.His360Arg"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}