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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: 1-31424709-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=31424709&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 31424709,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001199038.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.228C>T",
"hgvs_p": "p.Ala76Ala",
"transcript": "NM_178865.5",
"protein_id": "NP_849196.2",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 455,
"cds_start": 228,
"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": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.228C>T",
"hgvs_p": "p.Ala76Ala",
"transcript": "ENST00000373709.8",
"protein_id": "ENSP00000362813.3",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 455,
"cds_start": 228,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.228C>T",
"hgvs_p": "p.Ala76Ala",
"transcript": "ENST00000851492.1",
"protein_id": "ENSP00000521551.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 479,
"cds_start": 228,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.228C>T",
"hgvs_p": "p.Ala76Ala",
"transcript": "ENST00000851493.1",
"protein_id": "ENSP00000521552.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 472,
"cds_start": 228,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.228C>T",
"hgvs_p": "p.Ala76Ala",
"transcript": "ENST00000851491.1",
"protein_id": "ENSP00000521550.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 471,
"cds_start": 228,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.255C>T",
"hgvs_p": "p.Ala85Ala",
"transcript": "NM_001199038.2",
"protein_id": "NP_001185967.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 464,
"cds_start": 255,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.255C>T",
"hgvs_p": "p.Ala85Ala",
"transcript": "ENST00000373710.5",
"protein_id": "ENSP00000362814.1",
"transcript_support_level": 2,
"aa_start": 85,
"aa_end": null,
"aa_length": 464,
"cds_start": 255,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.240C>T",
"hgvs_p": "p.Ala80Ala",
"transcript": "NM_001199037.2",
"protein_id": "NP_001185966.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 459,
"cds_start": 240,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.240C>T",
"hgvs_p": "p.Ala80Ala",
"transcript": "NM_018565.4",
"protein_id": "NP_061035.2",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 459,
"cds_start": 240,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.240C>T",
"hgvs_p": "p.Ala80Ala",
"transcript": "ENST00000536384.2",
"protein_id": "ENSP00000439048.1",
"transcript_support_level": 2,
"aa_start": 80,
"aa_end": null,
"aa_length": 459,
"cds_start": 240,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.240C>T",
"hgvs_p": "p.Ala80Ala",
"transcript": "ENST00000536859.5",
"protein_id": "ENSP00000444307.1",
"transcript_support_level": 2,
"aa_start": 80,
"aa_end": null,
"aa_length": 459,
"cds_start": 240,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.228C>T",
"hgvs_p": "p.Ala76Ala",
"transcript": "ENST00000851496.1",
"protein_id": "ENSP00000521555.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 459,
"cds_start": 228,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.228C>T",
"hgvs_p": "p.Ala76Ala",
"transcript": "ENST00000851494.1",
"protein_id": "ENSP00000521553.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 453,
"cds_start": 228,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.228C>T",
"hgvs_p": "p.Ala76Ala",
"transcript": "ENST00000922302.1",
"protein_id": "ENSP00000592361.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 453,
"cds_start": 228,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.228C>T",
"hgvs_p": "p.Ala76Ala",
"transcript": "ENST00000851490.1",
"protein_id": "ENSP00000521549.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 452,
"cds_start": 228,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.228C>T",
"hgvs_p": "p.Ala76Ala",
"transcript": "ENST00000922303.1",
"protein_id": "ENSP00000592362.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 445,
"cds_start": 228,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.228C>T",
"hgvs_p": "p.Ala76Ala",
"transcript": "ENST00000969155.1",
"protein_id": "ENSP00000639214.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 426,
"cds_start": 228,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.228C>T",
"hgvs_p": "p.Ala76Ala",
"transcript": "ENST00000969154.1",
"protein_id": "ENSP00000639213.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 417,
"cds_start": 228,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.66C>T",
"hgvs_p": "p.Ala22Ala",
"transcript": "ENST00000851495.1",
"protein_id": "ENSP00000521554.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 401,
"cds_start": 66,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.63C>T",
"hgvs_p": "p.Ala21Ala",
"transcript": "NM_001199039.2",
"protein_id": "NP_001185968.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 400,
"cds_start": 63,
"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.40-4269C>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.408C>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.1189C>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": "rs147664019",
"frequency_reference_population": 0.0034999307,
"hom_count_reference_population": 21,
"allele_count_reference_population": 5613,
"gnomad_exomes_af": 0.00359362,
"gnomad_genomes_af": 0.00260697,
"gnomad_exomes_ac": 5216,
"gnomad_genomes_ac": 397,
"gnomad_exomes_homalt": 20,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7300000190734863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.299,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001199038.2",
"gene_symbol": "SERINC2",
"hgnc_id": 23231,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.255C>T",
"hgvs_p": "p.Ala85Ala"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}