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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: 14-96382429-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=96382429&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 96382429,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_016472.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSKIP",
"gene_hgnc_id": 20343,
"hgvs_c": "c.182A>C",
"hgvs_p": "p.Asp61Ala",
"transcript": "NM_016472.5",
"protein_id": "NP_057556.2",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 139,
"cds_start": 182,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000555181.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016472.5"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSKIP",
"gene_hgnc_id": 20343,
"hgvs_c": "c.182A>C",
"hgvs_p": "p.Asp61Ala",
"transcript": "ENST00000555181.6",
"protein_id": "ENSP00000450420.1",
"transcript_support_level": 1,
"aa_start": 61,
"aa_end": null,
"aa_length": 139,
"cds_start": 182,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016472.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555181.6"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSKIP",
"gene_hgnc_id": 20343,
"hgvs_c": "c.182A>C",
"hgvs_p": "p.Asp61Ala",
"transcript": "NM_001271904.1",
"protein_id": "NP_001258833.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 139,
"cds_start": 182,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271904.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSKIP",
"gene_hgnc_id": 20343,
"hgvs_c": "c.182A>C",
"hgvs_p": "p.Asp61Ala",
"transcript": "NM_001271905.2",
"protein_id": "NP_001258834.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 139,
"cds_start": 182,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271905.2"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSKIP",
"gene_hgnc_id": 20343,
"hgvs_c": "c.182A>C",
"hgvs_p": "p.Asp61Ala",
"transcript": "NM_001271906.2",
"protein_id": "NP_001258835.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 139,
"cds_start": 182,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271906.2"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSKIP",
"gene_hgnc_id": 20343,
"hgvs_c": "c.182A>C",
"hgvs_p": "p.Asp61Ala",
"transcript": "ENST00000438650.5",
"protein_id": "ENSP00000412315.1",
"transcript_support_level": 2,
"aa_start": 61,
"aa_end": null,
"aa_length": 139,
"cds_start": 182,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438650.5"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSKIP",
"gene_hgnc_id": 20343,
"hgvs_c": "c.182A>C",
"hgvs_p": "p.Asp61Ala",
"transcript": "ENST00000554182.5",
"protein_id": "ENSP00000451384.1",
"transcript_support_level": 2,
"aa_start": 61,
"aa_end": null,
"aa_length": 139,
"cds_start": 182,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554182.5"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSKIP",
"gene_hgnc_id": 20343,
"hgvs_c": "c.182A>C",
"hgvs_p": "p.Asp61Ala",
"transcript": "ENST00000556095.5",
"protein_id": "ENSP00000451188.1",
"transcript_support_level": 2,
"aa_start": 61,
"aa_end": null,
"aa_length": 139,
"cds_start": 182,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556095.5"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSKIP",
"gene_hgnc_id": 20343,
"hgvs_c": "c.182A>C",
"hgvs_p": "p.Asp61Ala",
"transcript": "ENST00000852448.1",
"protein_id": "ENSP00000522507.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 139,
"cds_start": 182,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852448.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSKIP",
"gene_hgnc_id": 20343,
"hgvs_c": "c.182A>C",
"hgvs_p": "p.Asp61Ala",
"transcript": "ENST00000852449.1",
"protein_id": "ENSP00000522508.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 139,
"cds_start": 182,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852449.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSKIP",
"gene_hgnc_id": 20343,
"hgvs_c": "c.182A>C",
"hgvs_p": "p.Asp61Ala",
"transcript": "ENST00000852450.1",
"protein_id": "ENSP00000522509.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 139,
"cds_start": 182,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852450.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSKIP",
"gene_hgnc_id": 20343,
"hgvs_c": "c.182A>C",
"hgvs_p": "p.Asp61Ala",
"transcript": "ENST00000852451.1",
"protein_id": "ENSP00000522510.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 139,
"cds_start": 182,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852451.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSKIP",
"gene_hgnc_id": 20343,
"hgvs_c": "c.182A>C",
"hgvs_p": "p.Asp61Ala",
"transcript": "ENST00000852452.1",
"protein_id": "ENSP00000522511.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 139,
"cds_start": 182,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852452.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSKIP",
"gene_hgnc_id": 20343,
"hgvs_c": "c.182A>C",
"hgvs_p": "p.Asp61Ala",
"transcript": "ENST00000852453.1",
"protein_id": "ENSP00000522512.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 139,
"cds_start": 182,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852453.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSKIP",
"gene_hgnc_id": 20343,
"hgvs_c": "c.182A>C",
"hgvs_p": "p.Asp61Ala",
"transcript": "ENST00000915224.1",
"protein_id": "ENSP00000585283.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 139,
"cds_start": 182,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915224.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSKIP",
"gene_hgnc_id": 20343,
"hgvs_c": "c.182A>C",
"hgvs_p": "p.Asp61Ala",
"transcript": "ENST00000915225.1",
"protein_id": "ENSP00000585284.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 139,
"cds_start": 182,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915225.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSKIP",
"gene_hgnc_id": 20343,
"hgvs_c": "c.182A>C",
"hgvs_p": "p.Asp61Ala",
"transcript": "ENST00000915226.1",
"protein_id": "ENSP00000585285.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 139,
"cds_start": 182,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915226.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSKIP",
"gene_hgnc_id": 20343,
"hgvs_c": "c.182A>C",
"hgvs_p": "p.Asp61Ala",
"transcript": "ENST00000915227.1",
"protein_id": "ENSP00000585286.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 139,
"cds_start": 182,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915227.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSKIP",
"gene_hgnc_id": 20343,
"hgvs_c": "c.182A>C",
"hgvs_p": "p.Asp61Ala",
"transcript": "ENST00000915228.1",
"protein_id": "ENSP00000585287.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 139,
"cds_start": 182,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915228.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSKIP",
"gene_hgnc_id": 20343,
"hgvs_c": "c.182A>C",
"hgvs_p": "p.Asp61Ala",
"transcript": "ENST00000967814.1",
"protein_id": "ENSP00000637874.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 139,
"cds_start": 182,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967814.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSKIP",
"gene_hgnc_id": 20343,
"hgvs_c": "c.182A>C",
"hgvs_p": "p.Asp61Ala",
"transcript": "ENST00000967817.1",
"protein_id": "ENSP00000637876.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 139,
"cds_start": 182,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967817.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSKIP",
"gene_hgnc_id": 20343,
"hgvs_c": "c.182A>C",
"hgvs_p": "p.Asp61Ala",
"transcript": "ENST00000555757.1",
"protein_id": "ENSP00000451820.1",
"transcript_support_level": 3,
"aa_start": 61,
"aa_end": null,
"aa_length": 108,
"cds_start": 182,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555757.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSKIP",
"gene_hgnc_id": 20343,
"hgvs_c": "c.182A>C",
"hgvs_p": "p.Asp61Ala",
"transcript": "ENST00000553699.5",
"protein_id": "ENSP00000451072.1",
"transcript_support_level": 4,
"aa_start": 61,
"aa_end": null,
"aa_length": 77,
"cds_start": 182,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553699.5"
}
],
"gene_symbol": "GSKIP",
"gene_hgnc_id": 20343,
"dbsnp": null,
"frequency_reference_population": 0.0000013688485,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136885,
"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": 0.07973790168762207,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.047,
"revel_prediction": "Benign",
"alphamissense_score": 0.1019,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.573,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016472.5",
"gene_symbol": "GSKIP",
"hgnc_id": 20343,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.182A>C",
"hgvs_p": "p.Asp61Ala"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}