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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: 1-31424845-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=31424845&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 31424845,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001199038.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERINC2",
"gene_hgnc_id": 23231,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Arg122Trp",
"transcript": "NM_178865.5",
"protein_id": "NP_849196.2",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 455,
"cds_start": 364,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373709.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178865.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERINC2",
"gene_hgnc_id": 23231,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Arg122Trp",
"transcript": "ENST00000373709.8",
"protein_id": "ENSP00000362813.3",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 455,
"cds_start": 364,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_178865.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373709.8"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERINC2",
"gene_hgnc_id": 23231,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Arg122Trp",
"transcript": "ENST00000851492.1",
"protein_id": "ENSP00000521551.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 479,
"cds_start": 364,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851492.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERINC2",
"gene_hgnc_id": 23231,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Arg122Trp",
"transcript": "ENST00000851493.1",
"protein_id": "ENSP00000521552.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 472,
"cds_start": 364,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851493.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERINC2",
"gene_hgnc_id": 23231,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Arg122Trp",
"transcript": "ENST00000851491.1",
"protein_id": "ENSP00000521550.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 471,
"cds_start": 364,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851491.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "SERINC2",
"gene_hgnc_id": 23231,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Arg131Trp",
"transcript": "NM_001199038.2",
"protein_id": "NP_001185967.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 464,
"cds_start": 391,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199038.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "SERINC2",
"gene_hgnc_id": 23231,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Arg131Trp",
"transcript": "ENST00000373710.5",
"protein_id": "ENSP00000362814.1",
"transcript_support_level": 2,
"aa_start": 131,
"aa_end": null,
"aa_length": 464,
"cds_start": 391,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373710.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERINC2",
"gene_hgnc_id": 23231,
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Trp",
"transcript": "NM_001199037.2",
"protein_id": "NP_001185966.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 459,
"cds_start": 376,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199037.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERINC2",
"gene_hgnc_id": 23231,
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Trp",
"transcript": "NM_018565.4",
"protein_id": "NP_061035.2",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 459,
"cds_start": 376,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018565.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERINC2",
"gene_hgnc_id": 23231,
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Trp",
"transcript": "ENST00000536384.2",
"protein_id": "ENSP00000439048.1",
"transcript_support_level": 2,
"aa_start": 126,
"aa_end": null,
"aa_length": 459,
"cds_start": 376,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536384.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERINC2",
"gene_hgnc_id": 23231,
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Trp",
"transcript": "ENST00000536859.5",
"protein_id": "ENSP00000444307.1",
"transcript_support_level": 2,
"aa_start": 126,
"aa_end": null,
"aa_length": 459,
"cds_start": 376,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536859.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERINC2",
"gene_hgnc_id": 23231,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Arg122Trp",
"transcript": "ENST00000851496.1",
"protein_id": "ENSP00000521555.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 459,
"cds_start": 364,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851496.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERINC2",
"gene_hgnc_id": 23231,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Arg122Trp",
"transcript": "ENST00000851494.1",
"protein_id": "ENSP00000521553.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 453,
"cds_start": 364,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851494.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERINC2",
"gene_hgnc_id": 23231,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Arg122Trp",
"transcript": "ENST00000922302.1",
"protein_id": "ENSP00000592361.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 453,
"cds_start": 364,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922302.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERINC2",
"gene_hgnc_id": 23231,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Arg122Trp",
"transcript": "ENST00000851490.1",
"protein_id": "ENSP00000521549.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 452,
"cds_start": 364,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851490.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERINC2",
"gene_hgnc_id": 23231,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Arg122Trp",
"transcript": "ENST00000922303.1",
"protein_id": "ENSP00000592362.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 445,
"cds_start": 364,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922303.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERINC2",
"gene_hgnc_id": 23231,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Arg122Trp",
"transcript": "ENST00000969155.1",
"protein_id": "ENSP00000639214.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 426,
"cds_start": 364,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969155.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERINC2",
"gene_hgnc_id": 23231,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Arg122Trp",
"transcript": "ENST00000969154.1",
"protein_id": "ENSP00000639213.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 417,
"cds_start": 364,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969154.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERINC2",
"gene_hgnc_id": 23231,
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Arg68Trp",
"transcript": "ENST00000851495.1",
"protein_id": "ENSP00000521554.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 401,
"cds_start": 202,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851495.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "SERINC2",
"gene_hgnc_id": 23231,
"hgvs_c": "c.199C>T",
"hgvs_p": "p.Arg67Trp",
"transcript": "NM_001199039.2",
"protein_id": "NP_001185968.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 400,
"cds_start": 199,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199039.2"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SERINC2",
"gene_hgnc_id": 23231,
"hgvs_c": "c.40-4133C>T",
"hgvs_p": null,
"transcript": "ENST00000922301.1",
"protein_id": "ENSP00000592360.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 208,
"cds_start": null,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922301.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERINC2",
"gene_hgnc_id": 23231,
"hgvs_c": "n.544C>T",
"hgvs_p": null,
"transcript": "ENST00000487207.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000487207.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERINC2",
"gene_hgnc_id": 23231,
"hgvs_c": "n.1325C>T",
"hgvs_p": null,
"transcript": "ENST00000491976.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000491976.1"
}
],
"gene_symbol": "SERINC2",
"gene_hgnc_id": 23231,
"dbsnp": "rs183001614",
"frequency_reference_population": 0.005926416,
"hom_count_reference_population": 38,
"allele_count_reference_population": 9551,
"gnomad_exomes_af": 0.00609713,
"gnomad_genomes_af": 0.00428973,
"gnomad_exomes_ac": 8898,
"gnomad_genomes_ac": 653,
"gnomad_exomes_homalt": 34,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.019129514694213867,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.159,
"revel_prediction": "Benign",
"alphamissense_score": 0.1325,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.065,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001199038.2",
"gene_symbol": "SERINC2",
"hgnc_id": 23231,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Arg131Trp"
}
],
"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
}