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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: 6-2948964-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=2948964&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 2948964,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_001271823.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.679G>T",
"hgvs_p": "p.Glu227*",
"transcript": "NM_004568.6",
"protein_id": "NP_004559.4",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 376,
"cds_start": 679,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380539.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004568.6"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.679G>T",
"hgvs_p": "p.Glu227*",
"transcript": "ENST00000380539.7",
"protein_id": "ENSP00000369912.2",
"transcript_support_level": 3,
"aa_start": 227,
"aa_end": null,
"aa_length": 376,
"cds_start": 679,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004568.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380539.7"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.679G>T",
"hgvs_p": "p.Glu227*",
"transcript": "ENST00000380520.6",
"protein_id": "ENSP00000369891.1",
"transcript_support_level": 1,
"aa_start": 227,
"aa_end": null,
"aa_length": 376,
"cds_start": 679,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380520.6"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.679G>T",
"hgvs_p": "p.Glu227*",
"transcript": "ENST00000380524.5",
"protein_id": "ENSP00000369896.1",
"transcript_support_level": 1,
"aa_start": 227,
"aa_end": null,
"aa_length": 376,
"cds_start": 679,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380524.5"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.679G>T",
"hgvs_p": "p.Glu227*",
"transcript": "ENST00000380546.7",
"protein_id": "ENSP00000369919.3",
"transcript_support_level": 1,
"aa_start": 227,
"aa_end": null,
"aa_length": 376,
"cds_start": 679,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380546.7"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.799G>T",
"hgvs_p": "p.Glu267*",
"transcript": "ENST00000860479.1",
"protein_id": "ENSP00000530538.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 416,
"cds_start": 799,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860479.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.799G>T",
"hgvs_p": "p.Glu267*",
"transcript": "ENST00000860496.1",
"protein_id": "ENSP00000530555.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 416,
"cds_start": 799,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860496.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.799G>T",
"hgvs_p": "p.Glu267*",
"transcript": "ENST00000860507.1",
"protein_id": "ENSP00000530566.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 416,
"cds_start": 799,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860507.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.736G>T",
"hgvs_p": "p.Glu246*",
"transcript": "NM_001271823.2",
"protein_id": "NP_001258752.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 395,
"cds_start": 736,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271823.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.736G>T",
"hgvs_p": "p.Glu246*",
"transcript": "ENST00000612421.3",
"protein_id": "ENSP00000484343.1",
"transcript_support_level": 2,
"aa_start": 246,
"aa_end": null,
"aa_length": 395,
"cds_start": 736,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612421.3"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.721G>T",
"hgvs_p": "p.Glu241*",
"transcript": "NM_001271822.2",
"protein_id": "NP_001258751.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 390,
"cds_start": 721,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271822.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.691G>T",
"hgvs_p": "p.Glu231*",
"transcript": "NM_001195291.3",
"protein_id": "NP_001182220.2",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 380,
"cds_start": 691,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195291.3"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.691G>T",
"hgvs_p": "p.Glu231*",
"transcript": "NM_001374515.1",
"protein_id": "NP_001361444.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 380,
"cds_start": 691,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374515.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.691G>T",
"hgvs_p": "p.Glu231*",
"transcript": "ENST00000616722.4",
"protein_id": "ENSP00000481398.1",
"transcript_support_level": 2,
"aa_start": 231,
"aa_end": null,
"aa_length": 380,
"cds_start": 691,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616722.4"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.691G>T",
"hgvs_p": "p.Glu231*",
"transcript": "ENST00000645580.1",
"protein_id": "ENSP00000495362.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 380,
"cds_start": 691,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645580.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.679G>T",
"hgvs_p": "p.Glu227*",
"transcript": "NM_001271824.2",
"protein_id": "NP_001258753.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 376,
"cds_start": 679,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271824.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.679G>T",
"hgvs_p": "p.Glu227*",
"transcript": "NM_001271825.2",
"protein_id": "NP_001258754.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 376,
"cds_start": 679,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271825.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.679G>T",
"hgvs_p": "p.Glu227*",
"transcript": "NM_001297699.2",
"protein_id": "NP_001284628.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 376,
"cds_start": 679,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297699.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.679G>T",
"hgvs_p": "p.Glu227*",
"transcript": "NM_001297700.2",
"protein_id": "NP_001284629.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 376,
"cds_start": 679,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297700.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.679G>T",
"hgvs_p": "p.Glu227*",
"transcript": "NM_001374516.1",
"protein_id": "NP_001361445.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 376,
"cds_start": 679,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374516.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.679G>T",
"hgvs_p": "p.Glu227*",
"transcript": "ENST00000380529.5",
"protein_id": "ENSP00000369901.1",
"transcript_support_level": 2,
"aa_start": 227,
"aa_end": null,
"aa_length": 376,
"cds_start": 679,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380529.5"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.679G>T",
"hgvs_p": "p.Glu227*",
"transcript": "ENST00000643098.1",
"protein_id": "ENSP00000493936.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 376,
"cds_start": 679,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000649845.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"hgvs_c": "c.*2G>T",
"hgvs_p": null,
"transcript": "ENST00000644828.1",
"protein_id": "ENSP00000495086.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": null,
"cds_end": null,
"cds_length": 515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644828.1"
}
],
"gene_symbol": "SERPINB6",
"gene_hgnc_id": 8950,
"dbsnp": "rs1201327476",
"frequency_reference_population": 0.0000013680901,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136809,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6200000047683716,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.23000000417232513,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.62,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.09,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.23,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001271823.2",
"gene_symbol": "SERPINB6",
"hgnc_id": 8950,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.736G>T",
"hgvs_p": "p.Glu246*"
}
],
"clinvar_disease": "Rare genetic deafness",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Rare genetic deafness",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}