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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: 9-215028-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=215028&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 215028,
"ref": "A",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_203447.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.52A>G",
"hgvs_p": "p.Arg18Gly",
"transcript": "NM_203447.4",
"protein_id": "NP_982272.2",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 2099,
"cds_start": 52,
"cds_end": null,
"cds_length": 6300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000432829.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_203447.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.52A>G",
"hgvs_p": "p.Arg18Gly",
"transcript": "ENST00000432829.7",
"protein_id": "ENSP00000394888.3",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 2099,
"cds_start": 52,
"cds_end": null,
"cds_length": 6300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_203447.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432829.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.-298A>G",
"hgvs_p": null,
"transcript": "XM_047423932.1",
"protein_id": "XP_047279888.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2068,
"cds_start": null,
"cds_end": null,
"cds_length": 6207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423932.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.-50A>G",
"hgvs_p": null,
"transcript": "XM_047423928.1",
"protein_id": "XP_047279884.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2033,
"cds_start": null,
"cds_end": null,
"cds_length": 6102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423928.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.-50A>G",
"hgvs_p": null,
"transcript": "XM_047423929.1",
"protein_id": "XP_047279885.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2031,
"cds_start": null,
"cds_end": null,
"cds_length": 6096,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423929.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.-298A>G",
"hgvs_p": null,
"transcript": "XM_047423932.1",
"protein_id": "XP_047279888.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2068,
"cds_start": null,
"cds_end": null,
"cds_length": 6207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423932.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.-50A>G",
"hgvs_p": null,
"transcript": "XM_047423928.1",
"protein_id": "XP_047279884.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2033,
"cds_start": null,
"cds_end": null,
"cds_length": 6102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423928.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.-50A>G",
"hgvs_p": null,
"transcript": "XM_047423929.1",
"protein_id": "XP_047279885.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2031,
"cds_start": null,
"cds_end": null,
"cds_length": 6096,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423929.1"
},
{
"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": 48,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.-152+3712A>G",
"hgvs_p": null,
"transcript": "XM_047423927.1",
"protein_id": "XP_047279883.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2033,
"cds_start": null,
"cds_end": null,
"cds_length": 6102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423927.1"
},
{
"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": 48,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.-152+3712A>G",
"hgvs_p": null,
"transcript": "XM_017015173.2",
"protein_id": "XP_016870662.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2031,
"cds_start": null,
"cds_end": null,
"cds_length": 6096,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015173.2"
},
{
"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": 47,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.-152+3712A>G",
"hgvs_p": null,
"transcript": "XM_047423930.1",
"protein_id": "XP_047279886.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2001,
"cds_start": null,
"cds_end": null,
"cds_length": 6006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423930.1"
},
{
"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": 47,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.-152+3712A>G",
"hgvs_p": null,
"transcript": "XM_011518045.4",
"protein_id": "XP_011516347.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1999,
"cds_start": null,
"cds_end": null,
"cds_length": 6000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518045.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8-AS1",
"gene_hgnc_id": 26436,
"hgvs_c": "n.866T>C",
"hgvs_p": null,
"transcript": "ENST00000382387.4",
"protein_id": null,
"transcript_support_level": 6,
"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": "ENST00000382387.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "n.161A>G",
"hgvs_p": null,
"transcript": "ENST00000454469.6",
"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": "retained_intron",
"feature": "ENST00000454469.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "n.52A>G",
"hgvs_p": null,
"transcript": "ENST00000469197.5",
"protein_id": "ENSP00000418587.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000469197.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "n.52A>G",
"hgvs_p": null,
"transcript": "ENST00000524396.5",
"protein_id": "ENSP00000436628.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000524396.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8-AS1",
"gene_hgnc_id": 26436,
"hgvs_c": "n.714T>C",
"hgvs_p": null,
"transcript": "ENST00000648587.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000648587.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "n.164A>G",
"hgvs_p": null,
"transcript": "ENST00000682121.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000682121.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "n.161A>G",
"hgvs_p": null,
"transcript": "ENST00000684166.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000684166.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "n.161A>G",
"hgvs_p": null,
"transcript": "ENST00000684384.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000684384.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8-AS1",
"gene_hgnc_id": 26436,
"hgvs_c": "n.723T>C",
"hgvs_p": null,
"transcript": "NR_160804.1",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_160804.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.-540A>G",
"hgvs_p": null,
"transcript": "ENST00000382329.2",
"protein_id": "ENSP00000371766.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1936,
"cds_start": null,
"cds_end": null,
"cds_length": 5811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382329.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "n.-139A>G",
"hgvs_p": null,
"transcript": "ENST00000479404.6",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000479404.6"
}
],
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"dbsnp": "rs200689054",
"frequency_reference_population": 0.00016296068,
"hom_count_reference_population": 0,
"allele_count_reference_population": 258,
"gnomad_exomes_af": 0.0000803624,
"gnomad_genomes_af": 0.00093964,
"gnomad_exomes_ac": 115,
"gnomad_genomes_ac": 143,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.031262725591659546,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.195,
"revel_prediction": "Benign",
"alphamissense_score": 0.9244,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.376,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_203447.4",
"gene_symbol": "DOCK8",
"hgnc_id": 19191,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.52A>G",
"hgvs_p": "p.Arg18Gly"
},
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "NR_160804.1",
"gene_symbol": "DOCK8-AS1",
"hgnc_id": 26436,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.723T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1",
"phenotype_combined": "not provided|Inborn genetic diseases|",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}