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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: 14-30885890-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=30885890&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 30885890,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000396618.9",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1055C>G",
"hgvs_p": "p.Thr352Ser",
"transcript": "NM_004086.3",
"protein_id": "NP_004077.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 550,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 2536,
"mane_select": "ENST00000396618.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1055C>G",
"hgvs_p": "p.Thr352Ser",
"transcript": "ENST00000396618.9",
"protein_id": "ENSP00000379862.3",
"transcript_support_level": 1,
"aa_start": 352,
"aa_end": null,
"aa_length": 550,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 2536,
"mane_select": "NM_004086.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1250C>G",
"hgvs_p": "p.Thr417Ser",
"transcript": "ENST00000216361.9",
"protein_id": "ENSP00000216361.5",
"transcript_support_level": 1,
"aa_start": 417,
"aa_end": null,
"aa_length": 615,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1675,
"cdna_end": null,
"cdna_length": 2582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1055C>G",
"hgvs_p": "p.Thr352Ser",
"transcript": "ENST00000475087.5",
"protein_id": "ENSP00000451528.1",
"transcript_support_level": 1,
"aa_start": 352,
"aa_end": null,
"aa_length": 494,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1422,
"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.975G>C",
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1250C>G",
"hgvs_p": "p.Thr417Ser",
"transcript": "NM_001347720.2",
"protein_id": "NP_001334649.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 615,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1630,
"cdna_end": null,
"cdna_length": 3055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1055C>G",
"hgvs_p": "p.Thr352Ser",
"transcript": "NM_001135058.2",
"protein_id": "NP_001128530.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 550,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1435,
"cdna_end": null,
"cdna_length": 2860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1055C>G",
"hgvs_p": "p.Thr352Ser",
"transcript": "ENST00000643575.1",
"protein_id": "ENSP00000494838.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 550,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1102,
"cdna_end": null,
"cdna_length": 1819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1055C>G",
"hgvs_p": "p.Thr352Ser",
"transcript": "ENST00000644874.2",
"protein_id": "ENSP00000496360.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 550,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1435,
"cdna_end": null,
"cdna_length": 2860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1112C>G",
"hgvs_p": "p.Thr371Ser",
"transcript": "ENST00000555117.2",
"protein_id": "ENSP00000493569.1",
"transcript_support_level": 2,
"aa_start": 371,
"aa_end": null,
"aa_length": 513,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1492,
"cdna_end": null,
"cdna_length": 1930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.719C>G",
"hgvs_p": "p.Thr240Ser",
"transcript": "ENST00000460581.6",
"protein_id": "ENSP00000451713.1",
"transcript_support_level": 2,
"aa_start": 240,
"aa_end": null,
"aa_length": 438,
"cds_start": 719,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1265,
"cdna_end": null,
"cdna_length": 2688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.704C>G",
"hgvs_p": "p.Thr235Ser",
"transcript": "ENST00000468826.2",
"protein_id": "ENSP00000452284.1",
"transcript_support_level": 2,
"aa_start": 235,
"aa_end": null,
"aa_length": 433,
"cds_start": 704,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1307C>G",
"hgvs_p": "p.Thr436Ser",
"transcript": "XM_047431062.1",
"protein_id": "XP_047287018.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 634,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1363,
"cdna_end": null,
"cdna_length": 2666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1250C>G",
"hgvs_p": "p.Thr417Ser",
"transcript": "XM_017021071.2",
"protein_id": "XP_016876560.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 615,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 2731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1250C>G",
"hgvs_p": "p.Thr417Ser",
"transcript": "XM_047431063.1",
"protein_id": "XP_047287019.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 615,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1630,
"cdna_end": null,
"cdna_length": 2933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1112C>G",
"hgvs_p": "p.Thr371Ser",
"transcript": "XM_024449506.1",
"protein_id": "XP_024305274.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 569,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1168,
"cdna_end": null,
"cdna_length": 2593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1055C>G",
"hgvs_p": "p.Thr352Ser",
"transcript": "XM_047431064.1",
"protein_id": "XP_047287020.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 550,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1111,
"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.888G>C",
"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.1357C>G",
"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.975G>C",
"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.-14G>C",
"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
}
],
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"dbsnp": "rs1045644",
"frequency_reference_population": 0.59421086,
"hom_count_reference_population": 295272,
"allele_count_reference_population": 958827,
"gnomad_exomes_af": 0.602588,
"gnomad_genomes_af": 0.51375,
"gnomad_exomes_ac": 880660,
"gnomad_genomes_ac": 78167,
"gnomad_exomes_homalt": 273119,
"gnomad_genomes_homalt": 22153,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.000017661739548202604,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.232,
"revel_prediction": "Benign",
"alphamissense_score": 0.0566,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.969,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000396618.9",
"gene_symbol": "COCH",
"hgnc_id": 2180,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1055C>G",
"hgvs_p": "p.Thr352Ser"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000555108.1",
"gene_symbol": "ENSG00000258525",
"hgnc_id": 58454,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.975G>C",
"hgvs_p": null
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NR_038356.1",
"gene_symbol": "COCH-AS1",
"hgnc_id": 58454,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.975G>C",
"hgvs_p": null
}
],
"clinvar_disease": " autosomal recessive 110,Autosomal dominant nonsyndromic hearing loss 9,Hearing loss,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:9",
"phenotype_combined": "not specified|Autosomal dominant nonsyndromic hearing loss 9|Hearing loss, autosomal recessive 110|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}