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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: 14-30885963-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=30885963&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 30885963,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000396618.9",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1128C>T",
"hgvs_p": "p.Ser376Ser",
"transcript": "NM_004086.3",
"protein_id": "NP_004077.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 550,
"cds_start": 1128,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 2536,
"mane_select": "ENST00000396618.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1128C>T",
"hgvs_p": "p.Ser376Ser",
"transcript": "ENST00000396618.9",
"protein_id": "ENSP00000379862.3",
"transcript_support_level": 1,
"aa_start": 376,
"aa_end": null,
"aa_length": 550,
"cds_start": 1128,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 2536,
"mane_select": "NM_004086.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1323C>T",
"hgvs_p": "p.Ser441Ser",
"transcript": "ENST00000216361.9",
"protein_id": "ENSP00000216361.5",
"transcript_support_level": 1,
"aa_start": 441,
"aa_end": null,
"aa_length": 615,
"cds_start": 1323,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1748,
"cdna_end": null,
"cdna_length": 2582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1128C>T",
"hgvs_p": "p.Ser376Ser",
"transcript": "ENST00000475087.5",
"protein_id": "ENSP00000451528.1",
"transcript_support_level": 1,
"aa_start": 376,
"aa_end": null,
"aa_length": 494,
"cds_start": 1128,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1495,
"cdna_end": null,
"cdna_length": 1997,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258525",
"gene_hgnc_id": 58454,
"hgvs_c": "n.902G>A",
"hgvs_p": null,
"transcript": "ENST00000555108.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1323C>T",
"hgvs_p": "p.Ser441Ser",
"transcript": "NM_001347720.2",
"protein_id": "NP_001334649.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 615,
"cds_start": 1323,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1703,
"cdna_end": null,
"cdna_length": 3055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1128C>T",
"hgvs_p": "p.Ser376Ser",
"transcript": "NM_001135058.2",
"protein_id": "NP_001128530.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 550,
"cds_start": 1128,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1508,
"cdna_end": null,
"cdna_length": 2860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1128C>T",
"hgvs_p": "p.Ser376Ser",
"transcript": "ENST00000643575.1",
"protein_id": "ENSP00000494838.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 550,
"cds_start": 1128,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 1819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1128C>T",
"hgvs_p": "p.Ser376Ser",
"transcript": "ENST00000644874.2",
"protein_id": "ENSP00000496360.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 550,
"cds_start": 1128,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1508,
"cdna_end": null,
"cdna_length": 2860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1185C>T",
"hgvs_p": "p.Ser395Ser",
"transcript": "ENST00000555117.2",
"protein_id": "ENSP00000493569.1",
"transcript_support_level": 2,
"aa_start": 395,
"aa_end": null,
"aa_length": 513,
"cds_start": 1185,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1565,
"cdna_end": null,
"cdna_length": 1930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.792C>T",
"hgvs_p": "p.Ser264Ser",
"transcript": "ENST00000460581.6",
"protein_id": "ENSP00000451713.1",
"transcript_support_level": 2,
"aa_start": 264,
"aa_end": null,
"aa_length": 438,
"cds_start": 792,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1338,
"cdna_end": null,
"cdna_length": 2688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.777C>T",
"hgvs_p": "p.Ser259Ser",
"transcript": "ENST00000468826.2",
"protein_id": "ENSP00000452284.1",
"transcript_support_level": 2,
"aa_start": 259,
"aa_end": null,
"aa_length": 433,
"cds_start": 777,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 779,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1380C>T",
"hgvs_p": "p.Ser460Ser",
"transcript": "XM_047431062.1",
"protein_id": "XP_047287018.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 634,
"cds_start": 1380,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1436,
"cdna_end": null,
"cdna_length": 2666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1323C>T",
"hgvs_p": "p.Ser441Ser",
"transcript": "XM_017021071.2",
"protein_id": "XP_016876560.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 615,
"cds_start": 1323,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1379,
"cdna_end": null,
"cdna_length": 2731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1323C>T",
"hgvs_p": "p.Ser441Ser",
"transcript": "XM_047431063.1",
"protein_id": "XP_047287019.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 615,
"cds_start": 1323,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1703,
"cdna_end": null,
"cdna_length": 2933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1185C>T",
"hgvs_p": "p.Ser395Ser",
"transcript": "XM_024449506.1",
"protein_id": "XP_024305274.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 569,
"cds_start": 1185,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1241,
"cdna_end": null,
"cdna_length": 2593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1128C>T",
"hgvs_p": "p.Ser376Ser",
"transcript": "XM_047431064.1",
"protein_id": "XP_047287020.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 550,
"cds_start": 1128,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 2414,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258525",
"gene_hgnc_id": 58454,
"hgvs_c": "n.815G>A",
"hgvs_p": null,
"transcript": "ENST00000468444.3",
"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": 1313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "n.1430C>T",
"hgvs_p": null,
"transcript": "ENST00000643697.1",
"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": 2051,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH-AS1",
"gene_hgnc_id": 58454,
"hgvs_c": "n.902G>A",
"hgvs_p": null,
"transcript": "NR_038356.1",
"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": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258525",
"gene_hgnc_id": 58454,
"hgvs_c": "n.-87G>A",
"hgvs_p": null,
"transcript": "ENST00000661204.1",
"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": 1734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258525",
"gene_hgnc_id": 58454,
"hgvs_c": "n.*220G>A",
"hgvs_p": null,
"transcript": "ENST00000556786.1",
"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": 569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"dbsnp": "rs146166304",
"frequency_reference_population": 0.0003227633,
"hom_count_reference_population": 0,
"allele_count_reference_population": 521,
"gnomad_exomes_af": 0.000326976,
"gnomad_genomes_af": 0.000282326,
"gnomad_exomes_ac": 478,
"gnomad_genomes_ac": 43,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.30000001192092896,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.3,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.972,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BP7,BS1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000396618.9",
"gene_symbol": "COCH",
"hgnc_id": 2180,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1128C>T",
"hgvs_p": "p.Ser376Ser"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000555108.1",
"gene_symbol": "ENSG00000258525",
"hgnc_id": 58454,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.902G>A",
"hgvs_p": null
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "NR_038356.1",
"gene_symbol": "COCH-AS1",
"hgnc_id": 58454,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.902G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:1",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}