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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: 16-911051-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=911051&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 911051,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000262301.16",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "c.543G>A",
"hgvs_p": "p.Gly181Gly",
"transcript": "NM_022773.4",
"protein_id": "NP_073610.2",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 567,
"cds_start": 543,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 2606,
"mane_select": "ENST00000262301.16",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "c.543G>A",
"hgvs_p": "p.Gly181Gly",
"transcript": "ENST00000262301.16",
"protein_id": "ENSP00000262301.12",
"transcript_support_level": 5,
"aa_start": 181,
"aa_end": null,
"aa_length": 567,
"cds_start": 543,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 2606,
"mane_select": "NM_022773.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "c.543G>A",
"hgvs_p": "p.Gly181Gly",
"transcript": "NM_001352020.1",
"protein_id": "NP_001338949.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 546,
"cds_start": 543,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 2541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "c.216G>A",
"hgvs_p": "p.Gly72Gly",
"transcript": "NM_001352019.2",
"protein_id": "NP_001338948.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 458,
"cds_start": 216,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 2878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "c.144G>A",
"hgvs_p": "p.Gly48Gly",
"transcript": "NM_001352018.2",
"protein_id": "NP_001338947.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 434,
"cds_start": 144,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 974,
"cdna_end": null,
"cdna_length": 3033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "c.216G>A",
"hgvs_p": "p.Gly72Gly",
"transcript": "ENST00000570014.5",
"protein_id": "ENSP00000454672.1",
"transcript_support_level": 5,
"aa_start": 72,
"aa_end": null,
"aa_length": 197,
"cds_start": 216,
"cds_end": null,
"cds_length": 595,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "c.42G>A",
"hgvs_p": "p.Gly14Gly",
"transcript": "ENST00000566627.5",
"protein_id": "ENSP00000455162.1",
"transcript_support_level": 3,
"aa_start": 14,
"aa_end": null,
"aa_length": 149,
"cds_start": 42,
"cds_end": null,
"cds_length": 451,
"cdna_start": 285,
"cdna_end": null,
"cdna_length": 694,
"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": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "n.*80G>A",
"hgvs_p": null,
"transcript": "ENST00000545827.6",
"protein_id": "ENSP00000443820.2",
"transcript_support_level": 2,
"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": 2731,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "n.*295G>A",
"hgvs_p": null,
"transcript": "ENST00000562226.5",
"protein_id": "ENSP00000455833.1",
"transcript_support_level": 2,
"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": 1088,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "n.*143G>A",
"hgvs_p": null,
"transcript": "ENST00000567595.1",
"protein_id": "ENSP00000457725.1",
"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": 663,
"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": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "n.*75G>A",
"hgvs_p": null,
"transcript": "ENST00000568964.5",
"protein_id": "ENSP00000456631.1",
"transcript_support_level": 2,
"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": 853,
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "n.547G>A",
"hgvs_p": null,
"transcript": "NR_147885.2",
"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": 2764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "c.-109G>A",
"hgvs_p": null,
"transcript": "NM_001352017.2",
"protein_id": "NP_001338946.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 350,
"cds_start": -4,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "c.-109G>A",
"hgvs_p": null,
"transcript": "NM_001352021.2",
"protein_id": "NP_001338950.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 350,
"cds_start": -4,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "c.-109G>A",
"hgvs_p": null,
"transcript": "ENST00000568897.5",
"protein_id": "ENSP00000458135.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 350,
"cds_start": -4,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "c.*75G>A",
"hgvs_p": null,
"transcript": "ENST00000562380.5",
"protein_id": "ENSP00000455715.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 134,
"cds_start": -4,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 551,
"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": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "n.*80G>A",
"hgvs_p": null,
"transcript": "ENST00000545827.6",
"protein_id": "ENSP00000443820.2",
"transcript_support_level": 2,
"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": 2731,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "n.*295G>A",
"hgvs_p": null,
"transcript": "ENST00000562226.5",
"protein_id": "ENSP00000455833.1",
"transcript_support_level": 2,
"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": 1088,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "n.*143G>A",
"hgvs_p": null,
"transcript": "ENST00000567595.1",
"protein_id": "ENSP00000457725.1",
"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": 663,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "n.*75G>A",
"hgvs_p": null,
"transcript": "ENST00000568964.5",
"protein_id": "ENSP00000456631.1",
"transcript_support_level": 2,
"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": 853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "c.-48-17979G>A",
"hgvs_p": null,
"transcript": "ENST00000543238.5",
"protein_id": "ENSP00000437418.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 330,
"cds_start": -4,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124903619",
"gene_hgnc_id": null,
"hgvs_c": "c.-5552G>A",
"hgvs_p": null,
"transcript": "XM_047434995.1",
"protein_id": "XP_047290951.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 594,
"cds_start": -4,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"dbsnp": "rs2277893",
"frequency_reference_population": 0.21440957,
"hom_count_reference_population": 45350,
"allele_count_reference_population": 345458,
"gnomad_exomes_af": 0.205889,
"gnomad_genomes_af": 0.296213,
"gnomad_exomes_ac": 300436,
"gnomad_genomes_ac": 45022,
"gnomad_exomes_homalt": 36921,
"gnomad_genomes_homalt": 8429,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7400000095367432,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.066,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000262301.16",
"gene_symbol": "LMF1",
"hgnc_id": 14154,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.543G>A",
"hgvs_p": "p.Gly181Gly"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XM_047434995.1",
"gene_symbol": "LOC124903619",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-5552G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Cardiovascular phenotype,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not provided|Cardiovascular phenotype|not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}