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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: 14-30889763-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=30889763&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 30889763,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000396618.9",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1625G>A",
"hgvs_p": "p.Cys542Tyr",
"transcript": "NM_004086.3",
"protein_id": "NP_004077.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 550,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1681,
"cdna_end": null,
"cdna_length": 2536,
"mane_select": "ENST00000396618.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1625G>A",
"hgvs_p": "p.Cys542Tyr",
"transcript": "ENST00000396618.9",
"protein_id": "ENSP00000379862.3",
"transcript_support_level": 1,
"aa_start": 542,
"aa_end": null,
"aa_length": 550,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1681,
"cdna_end": null,
"cdna_length": 2536,
"mane_select": "NM_004086.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1820G>A",
"hgvs_p": "p.Cys607Tyr",
"transcript": "ENST00000216361.9",
"protein_id": "ENSP00000216361.5",
"transcript_support_level": 1,
"aa_start": 607,
"aa_end": null,
"aa_length": 615,
"cds_start": 1820,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 2245,
"cdna_end": null,
"cdna_length": 2582,
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258525",
"gene_hgnc_id": 58454,
"hgvs_c": "n.46C>T",
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1477+3451G>A",
"hgvs_p": null,
"transcript": "ENST00000475087.5",
"protein_id": "ENSP00000451528.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 494,
"cds_start": -4,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1820G>A",
"hgvs_p": "p.Cys607Tyr",
"transcript": "NM_001347720.2",
"protein_id": "NP_001334649.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 615,
"cds_start": 1820,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 2200,
"cdna_end": null,
"cdna_length": 3055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1625G>A",
"hgvs_p": "p.Cys542Tyr",
"transcript": "NM_001135058.2",
"protein_id": "NP_001128530.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 550,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 2005,
"cdna_end": null,
"cdna_length": 2860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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.1625G>A",
"hgvs_p": "p.Cys542Tyr",
"transcript": "ENST00000643575.1",
"protein_id": "ENSP00000494838.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 550,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1672,
"cdna_end": null,
"cdna_length": 1819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1625G>A",
"hgvs_p": "p.Cys542Tyr",
"transcript": "ENST00000644874.2",
"protein_id": "ENSP00000496360.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 550,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 2005,
"cdna_end": null,
"cdna_length": 2860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Cys430Tyr",
"transcript": "ENST00000460581.6",
"protein_id": "ENSP00000451713.1",
"transcript_support_level": 2,
"aa_start": 430,
"aa_end": null,
"aa_length": 438,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1835,
"cdna_end": null,
"cdna_length": 2688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1274G>A",
"hgvs_p": "p.Cys425Tyr",
"transcript": "ENST00000468826.2",
"protein_id": "ENSP00000452284.1",
"transcript_support_level": 2,
"aa_start": 425,
"aa_end": null,
"aa_length": 433,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1877G>A",
"hgvs_p": "p.Cys626Tyr",
"transcript": "XM_047431062.1",
"protein_id": "XP_047287018.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 634,
"cds_start": 1877,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1933,
"cdna_end": null,
"cdna_length": 2666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1820G>A",
"hgvs_p": "p.Cys607Tyr",
"transcript": "XM_017021071.2",
"protein_id": "XP_016876560.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 615,
"cds_start": 1820,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1876,
"cdna_end": null,
"cdna_length": 2731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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.1820G>A",
"hgvs_p": "p.Cys607Tyr",
"transcript": "XM_047431063.1",
"protein_id": "XP_047287019.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 615,
"cds_start": 1820,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 2200,
"cdna_end": null,
"cdna_length": 2933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1682G>A",
"hgvs_p": "p.Cys561Tyr",
"transcript": "XM_024449506.1",
"protein_id": "XP_024305274.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 569,
"cds_start": 1682,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1738,
"cdna_end": null,
"cdna_length": 2593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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.1625G>A",
"hgvs_p": "p.Cys542Tyr",
"transcript": "XM_047431064.1",
"protein_id": "XP_047287020.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 550,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1681,
"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": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "n.1927G>A",
"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": 1,
"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.46C>T",
"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": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1534+3451G>A",
"hgvs_p": null,
"transcript": "ENST00000555117.2",
"protein_id": "ENSP00000493569.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 513,
"cds_start": -4,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1930,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258525",
"gene_hgnc_id": 58454,
"hgvs_c": "n.-65C>T",
"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": [
"upstream_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.-90C>T",
"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": "rs121908932",
"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": 0.9889270067214966,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.833,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9975,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.38,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.494,
"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": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PM2",
"PM5",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000396618.9",
"gene_symbol": "COCH",
"hgnc_id": 2180,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1625G>A",
"hgvs_p": "p.Cys542Tyr"
},
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000555108.1",
"gene_symbol": "ENSG00000258525",
"hgnc_id": 58454,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.46C>T",
"hgvs_p": null
},
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NR_038356.1",
"gene_symbol": "COCH-AS1",
"hgnc_id": 58454,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.46C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Autosomal dominant nonsyndromic hearing loss 9",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Autosomal dominant nonsyndromic hearing loss 9",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}