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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: 11-17494365-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=17494365&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 17494365,
"ref": "C",
"alt": "T",
"effect": "stop_retained_variant",
"transcript": "NM_005709.4",
"consequences": [
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.1658G>A",
"hgvs_p": "p.Ter553Ter",
"transcript": "NM_005709.4",
"protein_id": "NP_005700.2",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 552,
"cds_start": 1658,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1767,
"cdna_end": null,
"cdna_length": 2232,
"mane_select": null,
"mane_plus": "ENST00000318024.9",
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.1658G>A",
"hgvs_p": "p.Ter553Ter",
"transcript": "ENST00000318024.9",
"protein_id": "ENSP00000317018.4",
"transcript_support_level": 1,
"aa_start": 553,
"aa_end": null,
"aa_length": 552,
"cds_start": 1658,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1767,
"cdna_end": null,
"cdna_length": 2232,
"mane_select": null,
"mane_plus": "NM_005709.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.1601G>A",
"hgvs_p": "p.Ter534Ter",
"transcript": "ENST00000527020.5",
"protein_id": "ENSP00000436934.1",
"transcript_support_level": 1,
"aa_start": 534,
"aa_end": null,
"aa_length": 533,
"cds_start": 1601,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1694,
"cdna_end": null,
"cdna_length": 2159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.1565G>A",
"hgvs_p": "p.Ter522Ter",
"transcript": "ENST00000527720.5",
"protein_id": "ENSP00000432944.1",
"transcript_support_level": 1,
"aa_start": 522,
"aa_end": null,
"aa_length": 521,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1810,
"cdna_end": null,
"cdna_length": 2278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.2667G>A",
"hgvs_p": "p.Leu889Leu",
"transcript": "NM_153676.4",
"protein_id": "NP_710142.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 899,
"cds_start": 2667,
"cds_end": null,
"cds_length": 2700,
"cdna_start": 2776,
"cdna_end": null,
"cdna_length": 3241,
"mane_select": "ENST00000005226.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.2667G>A",
"hgvs_p": "p.Leu889Leu",
"transcript": "ENST00000005226.12",
"protein_id": "ENSP00000005226.7",
"transcript_support_level": 5,
"aa_start": 889,
"aa_end": null,
"aa_length": 899,
"cds_start": 2667,
"cds_end": null,
"cds_length": 2700,
"cdna_start": 2776,
"cdna_end": null,
"cdna_length": 3241,
"mane_select": "NM_153676.4",
"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": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "n.*372G>A",
"hgvs_p": null,
"transcript": "ENST00000526313.5",
"protein_id": "ENSP00000432236.1",
"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": 2149,
"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": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "n.*372G>A",
"hgvs_p": null,
"transcript": "ENST00000526313.5",
"protein_id": "ENSP00000432236.1",
"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": 2149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.1844G>A",
"hgvs_p": "p.Ter615Ter",
"transcript": "NM_001440679.1",
"protein_id": "NP_001427608.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 614,
"cds_start": 1844,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1942,
"cdna_end": null,
"cdna_length": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.1811G>A",
"hgvs_p": "p.Ter604Ter",
"transcript": "NM_001440680.1",
"protein_id": "NP_001427609.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 603,
"cds_start": 1811,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1920,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.1787G>A",
"hgvs_p": "p.Ter596Ter",
"transcript": "NM_001440681.1",
"protein_id": "NP_001427610.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 595,
"cds_start": 1787,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1896,
"cdna_end": null,
"cdna_length": 2361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.1754G>A",
"hgvs_p": "p.Ter585Ter",
"transcript": "NM_001440682.1",
"protein_id": "NP_001427611.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 584,
"cds_start": 1754,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 1863,
"cdna_end": null,
"cdna_length": 2328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.1709G>A",
"hgvs_p": "p.Ter570Ter",
"transcript": "NM_001440683.1",
"protein_id": "NP_001427612.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 569,
"cds_start": 1709,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1818,
"cdna_end": null,
"cdna_length": 2283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.1691G>A",
"hgvs_p": "p.Ter564Ter",
"transcript": "NM_001440684.1",
"protein_id": "NP_001427613.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 563,
"cds_start": 1691,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1789,
"cdna_end": null,
"cdna_length": 2254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Ter545Ter",
"transcript": "NM_001440686.1",
"protein_id": "NP_001427615.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 544,
"cds_start": 1634,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1732,
"cdna_end": null,
"cdna_length": 2197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.1601G>A",
"hgvs_p": "p.Ter534Ter",
"transcript": "NM_001297764.2",
"protein_id": "NP_001284693.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 533,
"cds_start": 1601,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1710,
"cdna_end": null,
"cdna_length": 2175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.1388G>A",
"hgvs_p": "p.Ter463Ter",
"transcript": "NM_001440687.1",
"protein_id": "NP_001427616.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 462,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1497,
"cdna_end": null,
"cdna_length": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.1602G>A",
"hgvs_p": "p.Leu534Leu",
"transcript": "NM_001440685.1",
"protein_id": "NP_001427614.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 544,
"cds_start": 1602,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1711,
"cdna_end": null,
"cdna_length": 2176,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "n.168G>A",
"hgvs_p": null,
"transcript": "ENST00000527551.1",
"protein_id": null,
"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": 371,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "n.542G>A",
"hgvs_p": null,
"transcript": "ENST00000529563.5",
"protein_id": null,
"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": 942,
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "n.729G>A",
"hgvs_p": null,
"transcript": "ENST00000624811.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 1194,
"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": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "n.1693G>A",
"hgvs_p": null,
"transcript": "NR_123738.2",
"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": 2158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.*988G>A",
"hgvs_p": null,
"transcript": "XM_017017075.2",
"protein_id": "XP_016872564.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 956,
"cds_start": -4,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"dbsnp": "rs1849167922",
"frequency_reference_population": 0.000002495561,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000206805,
"gnomad_genomes_af": 0.00000657022,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.46000000834465027,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.067,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.12,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_005709.4",
"gene_symbol": "USH1C",
"hgnc_id": 12597,
"effects": [
"stop_retained_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.1658G>A",
"hgvs_p": "p.Ter553Ter"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}