← Back to variant description
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: 11-82931949-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=82931949&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 82931949,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_145018.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIAS",
"gene_hgnc_id": 26351,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Leu204Ser",
"transcript": "NM_145018.4",
"protein_id": "NP_659455.3",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 998,
"cds_start": 611,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000533655.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145018.4"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIAS",
"gene_hgnc_id": 26351,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Leu204Ser",
"transcript": "ENST00000533655.6",
"protein_id": "ENSP00000435421.1",
"transcript_support_level": 1,
"aa_start": 204,
"aa_end": null,
"aa_length": 998,
"cds_start": 611,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_145018.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533655.6"
},
{
"aa_ref": "L",
"aa_alt": "S",
"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": "DDIAS",
"gene_hgnc_id": 26351,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Leu204Ser",
"transcript": "ENST00000329143.4",
"protein_id": "ENSP00000329930.4",
"transcript_support_level": 1,
"aa_start": 204,
"aa_end": null,
"aa_length": 998,
"cds_start": 611,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000329143.4"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIAS",
"gene_hgnc_id": 26351,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Leu204Ser",
"transcript": "NM_001363481.2",
"protein_id": "NP_001350410.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 998,
"cds_start": 611,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363481.2"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIAS",
"gene_hgnc_id": 26351,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Leu204Ser",
"transcript": "ENST00000930241.1",
"protein_id": "ENSP00000600300.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 998,
"cds_start": 611,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930241.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIAS",
"gene_hgnc_id": 26351,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Leu204Ser",
"transcript": "ENST00000930242.1",
"protein_id": "ENSP00000600301.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 998,
"cds_start": 611,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930242.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIAS",
"gene_hgnc_id": 26351,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Leu204Ser",
"transcript": "ENST00000930244.1",
"protein_id": "ENSP00000600303.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 998,
"cds_start": 611,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930244.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIAS",
"gene_hgnc_id": 26351,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Leu204Ser",
"transcript": "ENST00000930246.1",
"protein_id": "ENSP00000600305.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 998,
"cds_start": 611,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930246.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIAS",
"gene_hgnc_id": 26351,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Leu204Ser",
"transcript": "ENST00000930247.1",
"protein_id": "ENSP00000600306.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 998,
"cds_start": 611,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930247.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIAS",
"gene_hgnc_id": 26351,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Leu204Ser",
"transcript": "ENST00000930248.1",
"protein_id": "ENSP00000600307.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 998,
"cds_start": 611,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930248.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIAS",
"gene_hgnc_id": 26351,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Leu204Ser",
"transcript": "ENST00000930249.1",
"protein_id": "ENSP00000600308.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 998,
"cds_start": 611,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930249.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIAS",
"gene_hgnc_id": 26351,
"hgvs_c": "c.449T>C",
"hgvs_p": "p.Leu150Ser",
"transcript": "ENST00000930243.1",
"protein_id": "ENSP00000600302.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 944,
"cds_start": 449,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930243.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"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": "DDIAS",
"gene_hgnc_id": 26351,
"hgvs_c": "c.449T>C",
"hgvs_p": "p.Leu150Ser",
"transcript": "ENST00000930245.1",
"protein_id": "ENSP00000600304.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 944,
"cds_start": 449,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930245.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIAS",
"gene_hgnc_id": 26351,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Leu204Ser",
"transcript": "XM_011544836.3",
"protein_id": "XP_011543138.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 998,
"cds_start": 611,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544836.3"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIAS",
"gene_hgnc_id": 26351,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Leu204Ser",
"transcript": "XM_024448400.2",
"protein_id": "XP_024304168.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 998,
"cds_start": 611,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448400.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIAS",
"gene_hgnc_id": 26351,
"hgvs_c": "c.-293T>C",
"hgvs_p": null,
"transcript": "XM_011544837.2",
"protein_id": "XP_011543139.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 697,
"cds_start": null,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544837.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIAS",
"gene_hgnc_id": 26351,
"hgvs_c": "c.*130T>C",
"hgvs_p": null,
"transcript": "ENST00000525388.5",
"protein_id": "ENSP00000436611.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 120,
"cds_start": null,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525388.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIAS",
"gene_hgnc_id": 26351,
"hgvs_c": "c.*130T>C",
"hgvs_p": null,
"transcript": "ENST00000528759.5",
"protein_id": "ENSP00000431234.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 66,
"cds_start": null,
"cds_end": null,
"cds_length": 201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528759.5"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DDIAS",
"gene_hgnc_id": 26351,
"hgvs_c": "c.511+100T>C",
"hgvs_p": null,
"transcript": "ENST00000525361.5",
"protein_id": "ENSP00000435424.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": null,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525361.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.-148+25116A>G",
"hgvs_p": null,
"transcript": "ENST00000534396.5",
"protein_id": "ENSP00000432506.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 144,
"cds_start": null,
"cds_end": null,
"cds_length": 436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534396.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIAS",
"gene_hgnc_id": 26351,
"hgvs_c": "n.567T>C",
"hgvs_p": null,
"transcript": "ENST00000533750.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000533750.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIAS",
"gene_hgnc_id": 26351,
"hgvs_c": "c.*117T>C",
"hgvs_p": null,
"transcript": "ENST00000532764.5",
"protein_id": "ENSP00000431206.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 224,
"cds_start": null,
"cds_end": null,
"cds_length": 677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532764.5"
},
{
"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": "DDIAS",
"gene_hgnc_id": 26351,
"hgvs_c": "c.*130T>C",
"hgvs_p": null,
"transcript": "ENST00000524921.5",
"protein_id": "ENSP00000436241.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 120,
"cds_start": null,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524921.5"
}
],
"gene_symbol": "DDIAS",
"gene_hgnc_id": 26351,
"dbsnp": "rs781115475",
"frequency_reference_population": 0.000018586969,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.0000191543,
"gnomad_genomes_af": 0.0000131387,
"gnomad_exomes_ac": 28,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04930698871612549,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.019,
"revel_prediction": "Benign",
"alphamissense_score": 0.1116,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.414,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_145018.4",
"gene_symbol": "DDIAS",
"hgnc_id": 26351,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Leu204Ser"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000534396.5",
"gene_symbol": "PRCP",
"hgnc_id": 9344,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-148+25116A>G",
"hgvs_p": null
}
],
"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
}