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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: 14-53046809-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=53046809&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 53046809,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_001160148.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2662G>T",
"hgvs_p": "p.Glu888*",
"transcript": "NM_001160148.2",
"protein_id": "NP_001153620.1",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 900,
"cds_start": 2662,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 2887,
"cdna_end": null,
"cdna_length": 12941,
"mane_select": "ENST00000673822.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2662G>T",
"hgvs_p": "p.Glu888*",
"transcript": "ENST00000673822.2",
"protein_id": "ENSP00000500986.2",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 900,
"cds_start": 2662,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 2887,
"cdna_end": null,
"cdna_length": 12941,
"mane_select": "NM_001160148.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2578G>T",
"hgvs_p": "p.Glu860*",
"transcript": "ENST00000357758.3",
"protein_id": "ENSP00000350401.3",
"transcript_support_level": 1,
"aa_start": 860,
"aa_end": null,
"aa_length": 872,
"cds_start": 2578,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 2762,
"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.3169G>T",
"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": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2599G>T",
"hgvs_p": "p.Glu867*",
"transcript": "NM_001160147.2",
"protein_id": "NP_001153619.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 879,
"cds_start": 2599,
"cds_end": null,
"cds_length": 2640,
"cdna_start": 2824,
"cdna_end": null,
"cdna_length": 12878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2599G>T",
"hgvs_p": "p.Glu867*",
"transcript": "ENST00000395606.5",
"protein_id": "ENSP00000378970.1",
"transcript_support_level": 2,
"aa_start": 867,
"aa_end": null,
"aa_length": 879,
"cds_start": 2599,
"cds_end": null,
"cds_length": 2640,
"cdna_start": 2705,
"cdna_end": null,
"cdna_length": 12769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2578G>T",
"hgvs_p": "p.Glu860*",
"transcript": "NM_030637.3",
"protein_id": "NP_085140.2",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 872,
"cds_start": 2578,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 2803,
"cdna_end": null,
"cdna_length": 12857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.1987G>T",
"hgvs_p": "p.Glu663*",
"transcript": "ENST00000323669.10",
"protein_id": "ENSP00000327104.6",
"transcript_support_level": 2,
"aa_start": 663,
"aa_end": null,
"aa_length": 675,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 1987,
"cdna_end": null,
"cdna_length": 2363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.1966G>T",
"hgvs_p": "p.Glu656*",
"transcript": "ENST00000673930.1",
"protein_id": "ENSP00000501087.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 668,
"cds_start": 1966,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1966,
"cdna_end": null,
"cdna_length": 2172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.1354G>T",
"hgvs_p": "p.Glu452*",
"transcript": "ENST00000674152.1",
"protein_id": "ENSP00000500978.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 456,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1372,
"cdna_start": 1356,
"cdna_end": null,
"cdna_length": 1374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2785G>T",
"hgvs_p": "p.Glu929*",
"transcript": "XM_011537188.3",
"protein_id": "XP_011535490.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 941,
"cds_start": 2785,
"cds_end": null,
"cds_length": 2826,
"cdna_start": 3010,
"cdna_end": null,
"cdna_length": 13064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2764G>T",
"hgvs_p": "p.Glu922*",
"transcript": "XM_005268102.3",
"protein_id": "XP_005268159.1",
"transcript_support_level": null,
"aa_start": 922,
"aa_end": null,
"aa_length": 934,
"cds_start": 2764,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 2989,
"cdna_end": null,
"cdna_length": 13043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2701G>T",
"hgvs_p": "p.Glu901*",
"transcript": "XM_011537189.3",
"protein_id": "XP_011535491.1",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
"aa_length": 913,
"cds_start": 2701,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2926,
"cdna_end": null,
"cdna_length": 12980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2683G>T",
"hgvs_p": "p.Glu895*",
"transcript": "XM_005268103.3",
"protein_id": "XP_005268160.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 907,
"cds_start": 2683,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 2908,
"cdna_end": null,
"cdna_length": 12962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2680G>T",
"hgvs_p": "p.Glu894*",
"transcript": "XM_017021668.2",
"protein_id": "XP_016877157.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 906,
"cds_start": 2680,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2905,
"cdna_end": null,
"cdna_length": 12959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2533G>T",
"hgvs_p": "p.Glu845*",
"transcript": "XM_005268105.3",
"protein_id": "XP_005268162.1",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 857,
"cds_start": 2533,
"cds_end": null,
"cds_length": 2574,
"cdna_start": 2758,
"cdna_end": null,
"cdna_length": 12812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2449G>T",
"hgvs_p": "p.Glu817*",
"transcript": "XM_017021669.2",
"protein_id": "XP_016877158.1",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 829,
"cds_start": 2449,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 2674,
"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.2254G>T",
"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.*978G>T",
"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.*978G>T",
"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
}
],
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"dbsnp": "rs1882046965",
"frequency_reference_population": 0.0000012413632,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.85183e-7,
"gnomad_genomes_af": 0.00000659335,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6299999952316284,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.63,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.32,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PVS1_Moderate",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001160148.2",
"gene_symbol": "DDHD1",
"hgnc_id": 19714,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2662G>T",
"hgvs_p": "p.Glu888*"
}
],
"clinvar_disease": "Spasticity",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Spasticity",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}