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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: 14-53093444-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=53093444&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "DDHD1",
"hgnc_id": 19714,
"hgvs_c": "c.1013C>G",
"hgvs_p": "p.Ala338Gly",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001160148.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.4097,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.08,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.42296189069747925,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 900,
"aa_ref": "A",
"aa_start": 338,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12941,
"cdna_start": 1238,
"cds_end": null,
"cds_length": 2703,
"cds_start": 1013,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001160148.2",
"gene_hgnc_id": 19714,
"gene_symbol": "DDHD1",
"hgvs_c": "c.1013C>G",
"hgvs_p": "p.Ala338Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000673822.2",
"protein_coding": true,
"protein_id": "NP_001153620.1",
"strand": false,
"transcript": "NM_001160148.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 900,
"aa_ref": "A",
"aa_start": 338,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 12941,
"cdna_start": 1238,
"cds_end": null,
"cds_length": 2703,
"cds_start": 1013,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000673822.2",
"gene_hgnc_id": 19714,
"gene_symbol": "DDHD1",
"hgvs_c": "c.1013C>G",
"hgvs_p": "p.Ala338Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001160148.2",
"protein_coding": true,
"protein_id": "ENSP00000500986.2",
"strand": false,
"transcript": "ENST00000673822.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 872,
"aa_ref": "A",
"aa_start": 338,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5603,
"cdna_start": 1197,
"cds_end": null,
"cds_length": 2619,
"cds_start": 1013,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000357758.3",
"gene_hgnc_id": 19714,
"gene_symbol": "DDHD1",
"hgvs_c": "c.1013C>G",
"hgvs_p": "p.Ala338Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000350401.3",
"strand": false,
"transcript": "ENST00000357758.3",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3951,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000556027.5",
"gene_hgnc_id": 19714,
"gene_symbol": "DDHD1",
"hgvs_c": "n.221C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000556027.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 941,
"aa_ref": "A",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3788,
"cdna_start": 1358,
"cds_end": null,
"cds_length": 2826,
"cds_start": 1136,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000907176.1",
"gene_hgnc_id": 19714,
"gene_symbol": "DDHD1",
"hgvs_c": "c.1136C>G",
"hgvs_p": "p.Ala379Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577235.1",
"strand": false,
"transcript": "ENST00000907176.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 934,
"aa_ref": "A",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6365,
"cdna_start": 1340,
"cds_end": null,
"cds_length": 2805,
"cds_start": 1115,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000907173.1",
"gene_hgnc_id": 19714,
"gene_symbol": "DDHD1",
"hgvs_c": "c.1115C>G",
"hgvs_p": "p.Ala372Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577232.1",
"strand": false,
"transcript": "ENST00000907173.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 913,
"aa_ref": "A",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5754,
"cdna_start": 1349,
"cds_end": null,
"cds_length": 2742,
"cds_start": 1136,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000907174.1",
"gene_hgnc_id": 19714,
"gene_symbol": "DDHD1",
"hgvs_c": "c.1136C>G",
"hgvs_p": "p.Ala379Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577233.1",
"strand": false,
"transcript": "ENST00000907174.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 907,
"aa_ref": "A",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3705,
"cdna_start": 1271,
"cds_end": null,
"cds_length": 2724,
"cds_start": 1034,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000907175.1",
"gene_hgnc_id": 19714,
"gene_symbol": "DDHD1",
"hgvs_c": "c.1034C>G",
"hgvs_p": "p.Ala345Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577234.1",
"strand": false,
"transcript": "ENST00000907175.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 887,
"aa_ref": "A",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3565,
"cdna_start": 1276,
"cds_end": null,
"cds_length": 2664,
"cds_start": 1115,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000921203.1",
"gene_hgnc_id": 19714,
"gene_symbol": "DDHD1",
"hgvs_c": "c.1115C>G",
"hgvs_p": "p.Ala372Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591262.1",
"strand": false,
"transcript": "ENST00000921203.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 879,
"aa_ref": "A",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12878,
"cdna_start": 1259,
"cds_end": null,
"cds_length": 2640,
"cds_start": 1034,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001160147.2",
"gene_hgnc_id": 19714,
"gene_symbol": "DDHD1",
"hgvs_c": "c.1034C>G",
"hgvs_p": "p.Ala345Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001153619.1",
"strand": false,
"transcript": "NM_001160147.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 879,
"aa_ref": "A",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12769,
"cdna_start": 1140,
"cds_end": null,
"cds_length": 2640,
"cds_start": 1034,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000395606.5",
"gene_hgnc_id": 19714,
"gene_symbol": "DDHD1",
"hgvs_c": "c.1034C>G",
"hgvs_p": "p.Ala345Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378970.1",
"strand": false,
"transcript": "ENST00000395606.5",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 872,
"aa_ref": "A",
"aa_start": 338,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12857,
"cdna_start": 1238,
"cds_end": null,
"cds_length": 2619,
"cds_start": 1013,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_030637.3",
"gene_hgnc_id": 19714,
"gene_symbol": "DDHD1",
"hgvs_c": "c.1013C>G",
"hgvs_p": "p.Ala338Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_085140.2",
"strand": false,
"transcript": "NM_030637.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 675,
"aa_ref": "A",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2363,
"cdna_start": 422,
"cds_end": null,
"cds_length": 2028,
"cds_start": 422,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000323669.10",
"gene_hgnc_id": 19714,
"gene_symbol": "DDHD1",
"hgvs_c": "c.422C>G",
"hgvs_p": "p.Ala141Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000327104.6",
"strand": false,
"transcript": "ENST00000323669.10",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 668,
"aa_ref": "A",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2172,
"cdna_start": 551,
"cds_end": null,
"cds_length": 2007,
"cds_start": 551,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000673930.1",
"gene_hgnc_id": 19714,
"gene_symbol": "DDHD1",
"hgvs_c": "c.551C>G",
"hgvs_p": "p.Ala184Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501087.1",
"strand": false,
"transcript": "ENST00000673930.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 91,
"aa_ref": "A",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 599,
"cdna_start": 477,
"cds_end": null,
"cds_length": 277,
"cds_start": 155,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000556910.1",
"gene_hgnc_id": 19714,
"gene_symbol": "DDHD1",
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450785.1",
"strand": false,
"transcript": "ENST00000556910.1",
"transcript_support_level": 4
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 941,
"aa_ref": "A",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13064,
"cdna_start": 1361,
"cds_end": null,
"cds_length": 2826,
"cds_start": 1136,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011537188.3",
"gene_hgnc_id": 19714,
"gene_symbol": "DDHD1",
"hgvs_c": "c.1136C>G",
"hgvs_p": "p.Ala379Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535490.1",
"strand": false,
"transcript": "XM_011537188.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 934,
"aa_ref": "A",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13043,
"cdna_start": 1340,
"cds_end": null,
"cds_length": 2805,
"cds_start": 1115,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_005268102.3",
"gene_hgnc_id": 19714,
"gene_symbol": "DDHD1",
"hgvs_c": "c.1115C>G",
"hgvs_p": "p.Ala372Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005268159.1",
"strand": false,
"transcript": "XM_005268102.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 913,
"aa_ref": "A",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12980,
"cdna_start": 1361,
"cds_end": null,
"cds_length": 2742,
"cds_start": 1136,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011537189.3",
"gene_hgnc_id": 19714,
"gene_symbol": "DDHD1",
"hgvs_c": "c.1136C>G",
"hgvs_p": "p.Ala379Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535491.1",
"strand": false,
"transcript": "XM_011537189.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 907,
"aa_ref": "A",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12962,
"cdna_start": 1259,
"cds_end": null,
"cds_length": 2724,
"cds_start": 1034,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_005268103.3",
"gene_hgnc_id": 19714,
"gene_symbol": "DDHD1",
"hgvs_c": "c.1034C>G",
"hgvs_p": "p.Ala345Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005268160.1",
"strand": false,
"transcript": "XM_005268103.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 906,
"aa_ref": "A",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12959,
"cdna_start": 1340,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1115,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017021668.2",
"gene_hgnc_id": 19714,
"gene_symbol": "DDHD1",
"hgvs_c": "c.1115C>G",
"hgvs_p": "p.Ala372Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877157.1",
"strand": false,
"transcript": "XM_017021668.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 857,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2818,
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