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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: 7-111847042-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=111847042&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 111847042,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000428084.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.2558G>T",
"hgvs_p": "p.Arg853Leu",
"transcript": "NM_001363540.2",
"protein_id": "NP_001350469.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 1975,
"cds_start": 2558,
"cds_end": null,
"cds_length": 5928,
"cdna_start": 2819,
"cdna_end": null,
"cdna_length": 8353,
"mane_select": "ENST00000428084.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.2558G>T",
"hgvs_p": "p.Arg853Leu",
"transcript": "ENST00000428084.6",
"protein_id": "ENSP00000410746.1",
"transcript_support_level": 5,
"aa_start": 853,
"aa_end": null,
"aa_length": 1975,
"cds_start": 2558,
"cds_end": null,
"cds_length": 5928,
"cdna_start": 2819,
"cdna_end": null,
"cdna_length": 8353,
"mane_select": "NM_001363540.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.2558G>T",
"hgvs_p": "p.Arg853Leu",
"transcript": "ENST00000437633.6",
"protein_id": "ENSP00000404179.1",
"transcript_support_level": 1,
"aa_start": 853,
"aa_end": null,
"aa_length": 1966,
"cds_start": 2558,
"cds_end": null,
"cds_length": 5901,
"cdna_start": 2819,
"cdna_end": null,
"cdna_length": 8326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.911G>T",
"hgvs_p": "p.Arg304Leu",
"transcript": "ENST00000423057.6",
"protein_id": "ENSP00000412834.1",
"transcript_support_level": 1,
"aa_start": 304,
"aa_end": null,
"aa_length": 1388,
"cds_start": 911,
"cds_end": null,
"cds_length": 4167,
"cdna_start": 913,
"cdna_end": null,
"cdna_length": 6333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.2519G>T",
"hgvs_p": "p.Arg840Leu",
"transcript": "ENST00000445943.5",
"protein_id": "ENSP00000397412.1",
"transcript_support_level": 5,
"aa_start": 840,
"aa_end": null,
"aa_length": 1998,
"cds_start": 2519,
"cds_end": null,
"cds_length": 5997,
"cdna_start": 2521,
"cdna_end": null,
"cdna_length": 5999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.2558G>T",
"hgvs_p": "p.Arg853Leu",
"transcript": "NM_014705.4",
"protein_id": "NP_055520.3",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 1966,
"cds_start": 2558,
"cds_end": null,
"cds_length": 5901,
"cdna_start": 2819,
"cdna_end": null,
"cdna_length": 8326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.2651G>T",
"hgvs_p": "p.Arg884Leu",
"transcript": "XM_017012819.2",
"protein_id": "XP_016868308.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 2006,
"cds_start": 2651,
"cds_end": null,
"cds_length": 6021,
"cdna_start": 3216,
"cdna_end": null,
"cdna_length": 8750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.2651G>T",
"hgvs_p": "p.Arg884Leu",
"transcript": "XM_017012820.2",
"protein_id": "XP_016868309.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1997,
"cds_start": 2651,
"cds_end": null,
"cds_length": 5994,
"cdna_start": 3215,
"cdna_end": null,
"cdna_length": 8722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.2651G>T",
"hgvs_p": "p.Arg884Leu",
"transcript": "XM_017012821.2",
"protein_id": "XP_016868310.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1988,
"cds_start": 2651,
"cds_end": null,
"cds_length": 5967,
"cdna_start": 3217,
"cdna_end": null,
"cdna_length": 8697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.2591G>T",
"hgvs_p": "p.Arg864Leu",
"transcript": "XM_017012822.2",
"protein_id": "XP_016868311.1",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 1986,
"cds_start": 2591,
"cds_end": null,
"cds_length": 5961,
"cdna_start": 7722,
"cdna_end": null,
"cdna_length": 13256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.2651G>T",
"hgvs_p": "p.Arg884Leu",
"transcript": "XM_047421078.1",
"protein_id": "XP_047277034.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1979,
"cds_start": 2651,
"cds_end": null,
"cds_length": 5940,
"cdna_start": 3216,
"cdna_end": null,
"cdna_length": 8669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.2591G>T",
"hgvs_p": "p.Arg864Leu",
"transcript": "XM_047421079.1",
"protein_id": "XP_047277035.1",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 1977,
"cds_start": 2591,
"cds_end": null,
"cds_length": 5934,
"cdna_start": 7721,
"cdna_end": null,
"cdna_length": 13228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.2651G>T",
"hgvs_p": "p.Arg884Leu",
"transcript": "XM_017012823.2",
"protein_id": "XP_016868312.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1968,
"cds_start": 2651,
"cds_end": null,
"cds_length": 5907,
"cdna_start": 3217,
"cdna_end": null,
"cdna_length": 8637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.2651G>T",
"hgvs_p": "p.Arg884Leu",
"transcript": "XM_017012824.2",
"protein_id": "XP_016868313.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1959,
"cds_start": 2651,
"cds_end": null,
"cds_length": 5880,
"cdna_start": 3216,
"cdna_end": null,
"cdna_length": 8609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.2651G>T",
"hgvs_p": "p.Arg884Leu",
"transcript": "XM_017012825.2",
"protein_id": "XP_016868314.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1950,
"cds_start": 2651,
"cds_end": null,
"cds_length": 5853,
"cdna_start": 3217,
"cdna_end": null,
"cdna_length": 8583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.2558G>T",
"hgvs_p": "p.Arg853Leu",
"transcript": "XM_047421081.1",
"protein_id": "XP_047277037.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 1948,
"cds_start": 2558,
"cds_end": null,
"cds_length": 5847,
"cdna_start": 2819,
"cdna_end": null,
"cdna_length": 8272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.2558G>T",
"hgvs_p": "p.Arg853Leu",
"transcript": "XM_006716189.3",
"protein_id": "XP_006716252.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 1937,
"cds_start": 2558,
"cds_end": null,
"cds_length": 5814,
"cdna_start": 2819,
"cdna_end": null,
"cdna_length": 8239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.2330G>T",
"hgvs_p": "p.Arg777Leu",
"transcript": "XM_024447006.2",
"protein_id": "XP_024302774.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 1899,
"cds_start": 2330,
"cds_end": null,
"cds_length": 5700,
"cdna_start": 3090,
"cdna_end": null,
"cdna_length": 8624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"dbsnp": "rs2074130",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7408597469329834,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.498,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3136,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.18,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.531,
"phylop100way_prediction": "Uncertain_significance",
"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": "ENST00000428084.6",
"gene_symbol": "DOCK4",
"hgnc_id": 19192,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2558G>T",
"hgvs_p": "p.Arg853Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}