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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: 11-17526370-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=17526370&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 17526370,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_153676.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.651A>G",
"hgvs_p": "p.Val217Val",
"transcript": "NM_153676.4",
"protein_id": "NP_710142.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 899,
"cds_start": 651,
"cds_end": null,
"cds_length": 2700,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 3241,
"mane_select": "ENST00000005226.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.651A>G",
"hgvs_p": "p.Val217Val",
"transcript": "ENST00000005226.12",
"protein_id": "ENSP00000005226.7",
"transcript_support_level": 5,
"aa_start": 217,
"aa_end": null,
"aa_length": 899,
"cds_start": 651,
"cds_end": null,
"cds_length": 2700,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 3241,
"mane_select": "NM_153676.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.651A>G",
"hgvs_p": "p.Val217Val",
"transcript": "NM_005709.4",
"protein_id": "NP_005700.2",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 552,
"cds_start": 651,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 2232,
"mane_select": null,
"mane_plus": "ENST00000318024.9",
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.651A>G",
"hgvs_p": "p.Val217Val",
"transcript": "ENST00000318024.9",
"protein_id": "ENSP00000317018.4",
"transcript_support_level": 1,
"aa_start": 217,
"aa_end": null,
"aa_length": 552,
"cds_start": 651,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 2232,
"mane_select": null,
"mane_plus": "NM_005709.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.651A>G",
"hgvs_p": "p.Val217Val",
"transcript": "ENST00000527020.5",
"protein_id": "ENSP00000436934.1",
"transcript_support_level": 1,
"aa_start": 217,
"aa_end": null,
"aa_length": 533,
"cds_start": 651,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 744,
"cdna_end": null,
"cdna_length": 2159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.558A>G",
"hgvs_p": "p.Val186Val",
"transcript": "ENST00000527720.5",
"protein_id": "ENSP00000432944.1",
"transcript_support_level": 1,
"aa_start": 186,
"aa_end": null,
"aa_length": 521,
"cds_start": 558,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 2278,
"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": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "n.651A>G",
"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": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.684A>G",
"hgvs_p": "p.Val228Val",
"transcript": "NM_001440679.1",
"protein_id": "NP_001427608.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 614,
"cds_start": 684,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.651A>G",
"hgvs_p": "p.Val217Val",
"transcript": "NM_001440680.1",
"protein_id": "NP_001427609.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 603,
"cds_start": 651,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.651A>G",
"hgvs_p": "p.Val217Val",
"transcript": "NM_001440681.1",
"protein_id": "NP_001427610.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 595,
"cds_start": 651,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 2361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.651A>G",
"hgvs_p": "p.Val217Val",
"transcript": "NM_001440682.1",
"protein_id": "NP_001427611.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 584,
"cds_start": 651,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 2328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.651A>G",
"hgvs_p": "p.Val217Val",
"transcript": "NM_001440683.1",
"protein_id": "NP_001427612.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 569,
"cds_start": 651,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 2283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.684A>G",
"hgvs_p": "p.Val228Val",
"transcript": "NM_001440684.1",
"protein_id": "NP_001427613.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 563,
"cds_start": 684,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 2254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.651A>G",
"hgvs_p": "p.Val217Val",
"transcript": "NM_001440685.1",
"protein_id": "NP_001427614.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 544,
"cds_start": 651,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 2176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.684A>G",
"hgvs_p": "p.Val228Val",
"transcript": "NM_001440686.1",
"protein_id": "NP_001427615.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 544,
"cds_start": 684,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 2197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.651A>G",
"hgvs_p": "p.Val217Val",
"transcript": "NM_001297764.2",
"protein_id": "NP_001284693.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 533,
"cds_start": 651,
"cds_end": null,
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"cdna_start": 760,
"cdna_end": null,
"cdna_length": 2175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.651A>G",
"hgvs_p": "p.Val217Val",
"transcript": "NM_001440687.1",
"protein_id": "NP_001427616.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 462,
"cds_start": 651,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.684A>G",
"hgvs_p": "p.Val228Val",
"transcript": "ENST00000526181.1",
"protein_id": "ENSP00000437128.1",
"transcript_support_level": 5,
"aa_start": 228,
"aa_end": null,
"aa_length": 316,
"cds_start": 684,
"cds_end": null,
"cds_length": 953,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 1040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.651A>G",
"hgvs_p": "p.Val217Val",
"transcript": "XM_017017075.2",
"protein_id": "XP_016872564.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 956,
"cds_start": 651,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 3920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.651A>G",
"hgvs_p": "p.Val217Val",
"transcript": "XM_017017072.1",
"protein_id": "XP_016872561.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 714,
"cds_start": 651,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 6729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.651A>G",
"hgvs_p": "p.Val217Val",
"transcript": "XM_017017073.1",
"protein_id": "XP_016872562.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 695,
"cds_start": 651,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 6672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.651A>G",
"hgvs_p": "p.Val217Val",
"transcript": "XM_017017074.1",
"protein_id": "XP_016872563.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 553,
"cds_start": 651,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 6246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1C",
"gene_hgnc_id": 12597,
"hgvs_c": "c.651A>G",
"hgvs_p": "p.Val217Val",
"transcript": "XM_047426219.1",
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}
],
"gene_symbol": "USH1C",
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"dbsnp": "rs75977878",
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": -0.5099999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.013,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_153676.4",
"gene_symbol": "USH1C",
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"effects": [
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],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.651A>G",
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],
"clinvar_disease": "Usher syndrome type 1C,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"phenotype_combined": "not specified|Usher syndrome type 1C|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}