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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: 14-30878897-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=30878897&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 30878897,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000396618.9",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.326T>C",
"hgvs_p": "p.Ile109Thr",
"transcript": "NM_004086.3",
"protein_id": "NP_004077.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 550,
"cds_start": 326,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 382,
"cdna_end": null,
"cdna_length": 2536,
"mane_select": "ENST00000396618.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.326T>C",
"hgvs_p": "p.Ile109Thr",
"transcript": "ENST00000396618.9",
"protein_id": "ENSP00000379862.3",
"transcript_support_level": 1,
"aa_start": 109,
"aa_end": null,
"aa_length": 550,
"cds_start": 326,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 382,
"cdna_end": null,
"cdna_length": 2536,
"mane_select": "NM_004086.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Ile174Thr",
"transcript": "ENST00000216361.9",
"protein_id": "ENSP00000216361.5",
"transcript_support_level": 1,
"aa_start": 174,
"aa_end": null,
"aa_length": 615,
"cds_start": 521,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 946,
"cdna_end": null,
"cdna_length": 2582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.326T>C",
"hgvs_p": "p.Ile109Thr",
"transcript": "ENST00000475087.5",
"protein_id": "ENSP00000451528.1",
"transcript_support_level": 1,
"aa_start": 109,
"aa_end": null,
"aa_length": 494,
"cds_start": 326,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 693,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258525",
"gene_hgnc_id": 58454,
"hgvs_c": "n.1618-2345A>G",
"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": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Ile174Thr",
"transcript": "NM_001347720.2",
"protein_id": "NP_001334649.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 615,
"cds_start": 521,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 901,
"cdna_end": null,
"cdna_length": 3055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.326T>C",
"hgvs_p": "p.Ile109Thr",
"transcript": "NM_001135058.2",
"protein_id": "NP_001128530.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 550,
"cds_start": 326,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 2860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.326T>C",
"hgvs_p": "p.Ile109Thr",
"transcript": "ENST00000643575.1",
"protein_id": "ENSP00000494838.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 550,
"cds_start": 326,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 1819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.326T>C",
"hgvs_p": "p.Ile109Thr",
"transcript": "ENST00000644874.2",
"protein_id": "ENSP00000496360.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 550,
"cds_start": 326,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 2860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.326T>C",
"hgvs_p": "p.Ile109Thr",
"transcript": "ENST00000555117.2",
"protein_id": "ENSP00000493569.1",
"transcript_support_level": 2,
"aa_start": 109,
"aa_end": null,
"aa_length": 513,
"cds_start": 326,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 1930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.278T>C",
"hgvs_p": "p.Ile93Thr",
"transcript": "ENST00000556908.5",
"protein_id": "ENSP00000452541.1",
"transcript_support_level": 3,
"aa_start": 93,
"aa_end": null,
"aa_length": 192,
"cds_start": 278,
"cds_end": null,
"cds_length": 581,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Ile174Thr",
"transcript": "XM_047431062.1",
"protein_id": "XP_047287018.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 634,
"cds_start": 521,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 2666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Ile174Thr",
"transcript": "XM_017021071.2",
"protein_id": "XP_016876560.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 615,
"cds_start": 521,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 2731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Ile174Thr",
"transcript": "XM_047431063.1",
"protein_id": "XP_047287019.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 615,
"cds_start": 521,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 901,
"cdna_end": null,
"cdna_length": 2933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.326T>C",
"hgvs_p": "p.Ile109Thr",
"transcript": "XM_024449506.1",
"protein_id": "XP_024305274.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 569,
"cds_start": 326,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 382,
"cdna_end": null,
"cdna_length": 2593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.326T>C",
"hgvs_p": "p.Ile109Thr",
"transcript": "XM_047431064.1",
"protein_id": "XP_047287020.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 550,
"cds_start": 326,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 382,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "n.480T>C",
"hgvs_p": null,
"transcript": "ENST00000553833.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 635,
"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": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "n.571T>C",
"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": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.-11T>C",
"hgvs_p": null,
"transcript": "ENST00000460581.6",
"protein_id": "ENSP00000451713.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 438,
"cds_start": -4,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2688,
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.83-1555T>C",
"hgvs_p": null,
"transcript": "ENST00000555881.5",
"protein_id": "ENSP00000452569.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": -4,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "n.239+1169T>C",
"hgvs_p": null,
"transcript": "ENST00000553772.5",
"protein_id": "ENSP00000452343.1",
"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": 554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "n.156-526T>C",
"hgvs_p": null,
"transcript": "ENST00000557065.1",
"protein_id": "ENSP00000451629.1",
"transcript_support_level": 5,
"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": 654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258525",
"gene_hgnc_id": 58454,
"hgvs_c": "n.1368-2345A>G",
"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,
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},
{
"aa_ref": null,
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"canonical": false,
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"intron_variant"
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}
],
"gene_symbol": "COCH",
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"frequency_reference_population": 6.84061e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84061e-7,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.9447754621505737,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.42,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.535,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"acmg_score": 10,
"acmg_classification": "Pathogenic",
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"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000396618.9",
"gene_symbol": "COCH",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.326T>C",
"hgvs_p": "p.Ile109Thr"
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{
"score": 6,
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"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000555108.1",
"gene_symbol": "ENSG00000258525",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1618-2345A>G",
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},
{
"score": 6,
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"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NR_038356.1",
"gene_symbol": "COCH-AS1",
"hgnc_id": 58454,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1618-2345A>G",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}