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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: 7-111994229-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=111994229&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 111994229,
"ref": "T",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001363540.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.221A>C",
"hgvs_p": "p.Gln74Pro",
"transcript": "NM_001363540.2",
"protein_id": "NP_001350469.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1975,
"cds_start": 221,
"cds_end": null,
"cds_length": 5928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000428084.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363540.2"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.221A>C",
"hgvs_p": "p.Gln74Pro",
"transcript": "ENST00000428084.6",
"protein_id": "ENSP00000410746.1",
"transcript_support_level": 5,
"aa_start": 74,
"aa_end": null,
"aa_length": 1975,
"cds_start": 221,
"cds_end": null,
"cds_length": 5928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001363540.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428084.6"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.221A>C",
"hgvs_p": "p.Gln74Pro",
"transcript": "ENST00000437633.6",
"protein_id": "ENSP00000404179.1",
"transcript_support_level": 1,
"aa_start": 74,
"aa_end": null,
"aa_length": 1966,
"cds_start": 221,
"cds_end": null,
"cds_length": 5901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437633.6"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.182A>C",
"hgvs_p": "p.Gln61Pro",
"transcript": "ENST00000445943.5",
"protein_id": "ENSP00000397412.1",
"transcript_support_level": 5,
"aa_start": 61,
"aa_end": null,
"aa_length": 1998,
"cds_start": 182,
"cds_end": null,
"cds_length": 5997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445943.5"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.221A>C",
"hgvs_p": "p.Gln74Pro",
"transcript": "NM_014705.4",
"protein_id": "NP_055520.3",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1966,
"cds_start": 221,
"cds_end": null,
"cds_length": 5901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014705.4"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.314A>C",
"hgvs_p": "p.Gln105Pro",
"transcript": "XM_017012819.2",
"protein_id": "XP_016868308.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 2006,
"cds_start": 314,
"cds_end": null,
"cds_length": 6021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012819.2"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.314A>C",
"hgvs_p": "p.Gln105Pro",
"transcript": "XM_017012820.2",
"protein_id": "XP_016868309.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 1997,
"cds_start": 314,
"cds_end": null,
"cds_length": 5994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012820.2"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.314A>C",
"hgvs_p": "p.Gln105Pro",
"transcript": "XM_017012821.2",
"protein_id": "XP_016868310.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 1988,
"cds_start": 314,
"cds_end": null,
"cds_length": 5967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012821.2"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.254A>C",
"hgvs_p": "p.Gln85Pro",
"transcript": "XM_017012822.2",
"protein_id": "XP_016868311.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 1986,
"cds_start": 254,
"cds_end": null,
"cds_length": 5961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012822.2"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.314A>C",
"hgvs_p": "p.Gln105Pro",
"transcript": "XM_047421078.1",
"protein_id": "XP_047277034.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 1979,
"cds_start": 314,
"cds_end": null,
"cds_length": 5940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421078.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.254A>C",
"hgvs_p": "p.Gln85Pro",
"transcript": "XM_047421079.1",
"protein_id": "XP_047277035.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 1977,
"cds_start": 254,
"cds_end": null,
"cds_length": 5934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421079.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.314A>C",
"hgvs_p": "p.Gln105Pro",
"transcript": "XM_017012823.2",
"protein_id": "XP_016868312.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 1968,
"cds_start": 314,
"cds_end": null,
"cds_length": 5907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012823.2"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.314A>C",
"hgvs_p": "p.Gln105Pro",
"transcript": "XM_017012824.2",
"protein_id": "XP_016868313.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 1959,
"cds_start": 314,
"cds_end": null,
"cds_length": 5880,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012824.2"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.314A>C",
"hgvs_p": "p.Gln105Pro",
"transcript": "XM_017012825.2",
"protein_id": "XP_016868314.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 1950,
"cds_start": 314,
"cds_end": null,
"cds_length": 5853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012825.2"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.221A>C",
"hgvs_p": "p.Gln74Pro",
"transcript": "XM_047421081.1",
"protein_id": "XP_047277037.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1948,
"cds_start": 221,
"cds_end": null,
"cds_length": 5847,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421081.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.221A>C",
"hgvs_p": "p.Gln74Pro",
"transcript": "XM_006716189.3",
"protein_id": "XP_006716252.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1937,
"cds_start": 221,
"cds_end": null,
"cds_length": 5814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716189.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.-8A>C",
"hgvs_p": null,
"transcript": "XM_024447006.2",
"protein_id": "XP_024302774.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1899,
"cds_start": null,
"cds_end": null,
"cds_length": 5700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447006.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.-8A>C",
"hgvs_p": null,
"transcript": "XM_024447006.2",
"protein_id": "XP_024302774.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1899,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447006.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "n.477A>C",
"hgvs_p": null,
"transcript": "ENST00000476846.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000476846.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "n.490A>C",
"hgvs_p": null,
"transcript": "ENST00000661654.1",
"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": "ENST00000661654.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "n.-56A>C",
"hgvs_p": null,
"transcript": "ENST00000468571.2",
"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": "retained_intron",
"feature": "ENST00000468571.2"
}
],
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"dbsnp": "rs479887",
"frequency_reference_population": 7.028296e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.0283e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.547934889793396,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.326,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1775,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.647,
"phylop100way_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001363540.2",
"gene_symbol": "DOCK4",
"hgnc_id": 19192,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.221A>C",
"hgvs_p": "p.Gln74Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}