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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: 6-2955568-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=2955568&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 2955568,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000380539.7",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.268A>G",
"hgvs_p": "p.Met90Val",
"transcript": "NM_004568.6",
"protein_id": "NP_004559.4",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 376,
"cds_start": 268,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 313,
"cdna_end": null,
"cdna_length": 1315,
"mane_select": "ENST00000380539.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.268A>G",
"hgvs_p": "p.Met90Val",
"transcript": "ENST00000380539.7",
"protein_id": "ENSP00000369912.2",
"transcript_support_level": 3,
"aa_start": 90,
"aa_end": null,
"aa_length": 376,
"cds_start": 268,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 313,
"cdna_end": null,
"cdna_length": 1315,
"mane_select": "NM_004568.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.268A>G",
"hgvs_p": "p.Met90Val",
"transcript": "ENST00000380520.6",
"protein_id": "ENSP00000369891.1",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 376,
"cds_start": 268,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 348,
"cdna_end": null,
"cdna_length": 1313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.268A>G",
"hgvs_p": "p.Met90Val",
"transcript": "ENST00000380524.5",
"protein_id": "ENSP00000369896.1",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 376,
"cds_start": 268,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 1495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.268A>G",
"hgvs_p": "p.Met90Val",
"transcript": "ENST00000380546.7",
"protein_id": "ENSP00000369919.3",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 376,
"cds_start": 268,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 1375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000646775.1",
"protein_id": "ENSP00000496225.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 16,
"cds_start": 1,
"cds_end": null,
"cds_length": 52,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.325A>G",
"hgvs_p": "p.Met109Val",
"transcript": "NM_001271823.2",
"protein_id": "NP_001258752.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 395,
"cds_start": 325,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 810,
"cdna_end": null,
"cdna_length": 1812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.325A>G",
"hgvs_p": "p.Met109Val",
"transcript": "ENST00000612421.3",
"protein_id": "ENSP00000484343.1",
"transcript_support_level": 2,
"aa_start": 109,
"aa_end": null,
"aa_length": 395,
"cds_start": 325,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 1566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.310A>G",
"hgvs_p": "p.Met104Val",
"transcript": "NM_001271822.2",
"protein_id": "NP_001258751.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 390,
"cds_start": 310,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 1731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.280A>G",
"hgvs_p": "p.Met94Val",
"transcript": "NM_001195291.3",
"protein_id": "NP_001182220.2",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 380,
"cds_start": 280,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 1450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.280A>G",
"hgvs_p": "p.Met94Val",
"transcript": "NM_001374515.1",
"protein_id": "NP_001361444.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 380,
"cds_start": 280,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 1492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.280A>G",
"hgvs_p": "p.Met94Val",
"transcript": "ENST00000616722.4",
"protein_id": "ENSP00000481398.1",
"transcript_support_level": 2,
"aa_start": 94,
"aa_end": null,
"aa_length": 380,
"cds_start": 280,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 2036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.280A>G",
"hgvs_p": "p.Met94Val",
"transcript": "ENST00000645580.1",
"protein_id": "ENSP00000495362.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 380,
"cds_start": 280,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 1565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.268A>G",
"hgvs_p": "p.Met90Val",
"transcript": "NM_001271824.2",
"protein_id": "NP_001258753.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 376,
"cds_start": 268,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 1357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.268A>G",
"hgvs_p": "p.Met90Val",
"transcript": "NM_001271825.2",
"protein_id": "NP_001258754.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 376,
"cds_start": 268,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 1517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.268A>G",
"hgvs_p": "p.Met90Val",
"transcript": "NM_001297699.2",
"protein_id": "NP_001284628.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 376,
"cds_start": 268,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 598,
"cdna_end": null,
"cdna_length": 1600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.268A>G",
"hgvs_p": "p.Met90Val",
"transcript": "NM_001297700.2",
"protein_id": "NP_001284629.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 376,
"cds_start": 268,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 1482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.268A>G",
"hgvs_p": "p.Met90Val",
"transcript": "NM_001374516.1",
"protein_id": "NP_001361445.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 376,
"cds_start": 268,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 306,
"cdna_end": null,
"cdna_length": 1308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.268A>G",
"hgvs_p": "p.Met90Val",
"transcript": "ENST00000380529.5",
"protein_id": "ENSP00000369901.1",
"transcript_support_level": 2,
"aa_start": 90,
"aa_end": null,
"aa_length": 376,
"cds_start": 268,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 368,
"cdna_end": null,
"cdna_length": 1370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.268A>G",
"hgvs_p": "p.Met90Val",
"transcript": "ENST00000643098.1",
"protein_id": "ENSP00000493936.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 376,
"cds_start": 268,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 1638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.268A>G",
"hgvs_p": "p.Met90Val",
"transcript": "ENST00000644178.1",
"protein_id": "ENSP00000496073.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 376,
"cds_start": 268,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 4622,
"cdna_end": null,
"cdna_length": 5620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.268A>G",
"hgvs_p": "p.Met90Val",
"transcript": "ENST00000644388.1",
"protein_id": "ENSP00000494650.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 376,
"cds_start": 268,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 1494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.136A>G",
"hgvs_p": "p.Met46Val",
"transcript": "NM_001374517.1",
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}
],
"gene_symbol": "SERPINB6",
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"dbsnp": "rs2295769",
"frequency_reference_population": 0.2862485,
"hom_count_reference_population": 68999,
"allele_count_reference_population": 461969,
"gnomad_exomes_af": 0.292383,
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"gnomad_exomes_ac": 427371,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.016168445348739624,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.186,
"revel_prediction": "Benign",
"alphamissense_score": 0.1233,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.232,
"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": "ENST00000380539.7",
"gene_symbol": "SERPINB6",
"hgnc_id": 8950,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.268A>G",
"hgvs_p": "p.Met90Val"
}
],
"clinvar_disease": "Autosomal recessive nonsyndromic hearing loss 91,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not specified|Autosomal recessive nonsyndromic hearing loss 91|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}