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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: 14-53046782-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=53046782&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 53046782,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001160148.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2689T>A",
"hgvs_p": "p.Leu897Ile",
"transcript": "NM_001160148.2",
"protein_id": "NP_001153620.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 900,
"cds_start": 2689,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 2914,
"cdna_end": null,
"cdna_length": 12941,
"mane_select": "ENST00000673822.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2689T>A",
"hgvs_p": "p.Leu897Ile",
"transcript": "ENST00000673822.2",
"protein_id": "ENSP00000500986.2",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 900,
"cds_start": 2689,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 2914,
"cdna_end": null,
"cdna_length": 12941,
"mane_select": "NM_001160148.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2605T>A",
"hgvs_p": "p.Leu869Ile",
"transcript": "ENST00000357758.3",
"protein_id": "ENSP00000350401.3",
"transcript_support_level": 1,
"aa_start": 869,
"aa_end": null,
"aa_length": 872,
"cds_start": 2605,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 2789,
"cdna_end": null,
"cdna_length": 5603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "n.3196T>A",
"hgvs_p": null,
"transcript": "ENST00000556027.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2626T>A",
"hgvs_p": "p.Leu876Ile",
"transcript": "NM_001160147.2",
"protein_id": "NP_001153619.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 879,
"cds_start": 2626,
"cds_end": null,
"cds_length": 2640,
"cdna_start": 2851,
"cdna_end": null,
"cdna_length": 12878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2626T>A",
"hgvs_p": "p.Leu876Ile",
"transcript": "ENST00000395606.5",
"protein_id": "ENSP00000378970.1",
"transcript_support_level": 2,
"aa_start": 876,
"aa_end": null,
"aa_length": 879,
"cds_start": 2626,
"cds_end": null,
"cds_length": 2640,
"cdna_start": 2732,
"cdna_end": null,
"cdna_length": 12769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2605T>A",
"hgvs_p": "p.Leu869Ile",
"transcript": "NM_030637.3",
"protein_id": "NP_085140.2",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 872,
"cds_start": 2605,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 2830,
"cdna_end": null,
"cdna_length": 12857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2014T>A",
"hgvs_p": "p.Leu672Ile",
"transcript": "ENST00000323669.10",
"protein_id": "ENSP00000327104.6",
"transcript_support_level": 2,
"aa_start": 672,
"aa_end": null,
"aa_length": 675,
"cds_start": 2014,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 2014,
"cdna_end": null,
"cdna_length": 2363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.1993T>A",
"hgvs_p": "p.Leu665Ile",
"transcript": "ENST00000673930.1",
"protein_id": "ENSP00000501087.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 668,
"cds_start": 1993,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1993,
"cdna_end": null,
"cdna_length": 2172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2812T>A",
"hgvs_p": "p.Leu938Ile",
"transcript": "XM_011537188.3",
"protein_id": "XP_011535490.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 941,
"cds_start": 2812,
"cds_end": null,
"cds_length": 2826,
"cdna_start": 3037,
"cdna_end": null,
"cdna_length": 13064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2791T>A",
"hgvs_p": "p.Leu931Ile",
"transcript": "XM_005268102.3",
"protein_id": "XP_005268159.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 934,
"cds_start": 2791,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 3016,
"cdna_end": null,
"cdna_length": 13043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2728T>A",
"hgvs_p": "p.Leu910Ile",
"transcript": "XM_011537189.3",
"protein_id": "XP_011535491.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 913,
"cds_start": 2728,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2953,
"cdna_end": null,
"cdna_length": 12980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2710T>A",
"hgvs_p": "p.Leu904Ile",
"transcript": "XM_005268103.3",
"protein_id": "XP_005268160.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 907,
"cds_start": 2710,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 2935,
"cdna_end": null,
"cdna_length": 12962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2707T>A",
"hgvs_p": "p.Leu903Ile",
"transcript": "XM_017021668.2",
"protein_id": "XP_016877157.1",
"transcript_support_level": null,
"aa_start": 903,
"aa_end": null,
"aa_length": 906,
"cds_start": 2707,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2932,
"cdna_end": null,
"cdna_length": 12959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2560T>A",
"hgvs_p": "p.Leu854Ile",
"transcript": "XM_005268105.3",
"protein_id": "XP_005268162.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 857,
"cds_start": 2560,
"cds_end": null,
"cds_length": 2574,
"cdna_start": 2785,
"cdna_end": null,
"cdna_length": 12812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2476T>A",
"hgvs_p": "p.Leu826Ile",
"transcript": "XM_017021669.2",
"protein_id": "XP_016877158.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 829,
"cds_start": 2476,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 2701,
"cdna_end": null,
"cdna_length": 12728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "n.2281T>A",
"hgvs_p": null,
"transcript": "ENST00000673827.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "n.*1005T>A",
"hgvs_p": null,
"transcript": "ENST00000674014.1",
"protein_id": "ENSP00000501105.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "n.*1005T>A",
"hgvs_p": null,
"transcript": "ENST00000674014.1",
"protein_id": "ENSP00000501105.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.*9T>A",
"hgvs_p": null,
"transcript": "ENST00000674152.1",
"protein_id": "ENSP00000500978.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": -4,
"cds_end": null,
"cds_length": 1372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"dbsnp": "rs192934516",
"frequency_reference_population": 0.000040470353,
"hom_count_reference_population": 0,
"allele_count_reference_population": 65,
"gnomad_exomes_af": 0.0000412462,
"gnomad_genomes_af": 0.0000330177,
"gnomad_exomes_ac": 60,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.011638373136520386,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.086,
"revel_prediction": "Benign",
"alphamissense_score": 0.065,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.779,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BS1_Supporting",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_001160148.2",
"gene_symbol": "DDHD1",
"hgnc_id": 19714,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2689T>A",
"hgvs_p": "p.Leu897Ile"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}