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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: 7-158911554-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=158911554&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DYNC2I1",
"hgnc_id": 21862,
"hgvs_c": "c.1465C>G",
"hgvs_p": "p.Arg489Gly",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -14,
"transcript": "NM_018051.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS1,BS2",
"acmg_score": -14,
"allele_count_reference_population": 842,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.9618,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.33,
"chr": "7",
"clinvar_classification": "Benign",
"clinvar_disease": "Short-rib thoracic dysplasia 8 with or without polydactyly",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.027967751026153564,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1066,
"aa_ref": "R",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3789,
"cdna_start": 1643,
"cds_end": null,
"cds_length": 3201,
"cds_start": 1465,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_018051.5",
"gene_hgnc_id": 21862,
"gene_symbol": "DYNC2I1",
"hgvs_c": "c.1465C>G",
"hgvs_p": "p.Arg489Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000407559.8",
"protein_coding": true,
"protein_id": "NP_060521.4",
"strand": true,
"transcript": "NM_018051.5",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1066,
"aa_ref": "R",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3789,
"cdna_start": 1643,
"cds_end": null,
"cds_length": 3201,
"cds_start": 1465,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000407559.8",
"gene_hgnc_id": 21862,
"gene_symbol": "DYNC2I1",
"hgvs_c": "c.1465C>G",
"hgvs_p": "p.Arg489Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018051.5",
"protein_coding": true,
"protein_id": "ENSP00000384290.3",
"strand": true,
"transcript": "ENST00000407559.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2769,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000444851.5",
"gene_hgnc_id": 21862,
"gene_symbol": "DYNC2I1",
"hgvs_c": "n.796C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000392608.1",
"strand": true,
"transcript": "ENST00000444851.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1091,
"aa_ref": "R",
"aa_start": 514,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3757,
"cdna_start": 1614,
"cds_end": null,
"cds_length": 3276,
"cds_start": 1540,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000860814.1",
"gene_hgnc_id": 21862,
"gene_symbol": "DYNC2I1",
"hgvs_c": "c.1540C>G",
"hgvs_p": "p.Arg514Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530873.1",
"strand": true,
"transcript": "ENST00000860814.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1084,
"aa_ref": "R",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3814,
"cdna_start": 1671,
"cds_end": null,
"cds_length": 3255,
"cds_start": 1519,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000961351.1",
"gene_hgnc_id": 21862,
"gene_symbol": "DYNC2I1",
"hgvs_c": "c.1519C>G",
"hgvs_p": "p.Arg507Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631410.1",
"strand": true,
"transcript": "ENST00000961351.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1069,
"aa_ref": "R",
"aa_start": 492,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3766,
"cdna_start": 1623,
"cds_end": null,
"cds_length": 3210,
"cds_start": 1474,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000860811.1",
"gene_hgnc_id": 21862,
"gene_symbol": "DYNC2I1",
"hgvs_c": "c.1474C>G",
"hgvs_p": "p.Arg492Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530870.1",
"strand": true,
"transcript": "ENST00000860811.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1065,
"aa_ref": "R",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3735,
"cdna_start": 1592,
"cds_end": null,
"cds_length": 3198,
"cds_start": 1462,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000936430.1",
"gene_hgnc_id": 21862,
"gene_symbol": "DYNC2I1",
"hgvs_c": "c.1462C>G",
"hgvs_p": "p.Arg488Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606489.1",
"strand": true,
"transcript": "ENST00000936430.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1064,
"aa_ref": "R",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3736,
"cdna_start": 1590,
"cds_end": null,
"cds_length": 3195,
"cds_start": 1459,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000860813.1",
"gene_hgnc_id": 21862,
"gene_symbol": "DYNC2I1",
"hgvs_c": "c.1459C>G",
"hgvs_p": "p.Arg487Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530872.1",
"strand": true,
"transcript": "ENST00000860813.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1029,
"aa_ref": "R",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3656,
"cdna_start": 1510,
"cds_end": null,
"cds_length": 3090,
"cds_start": 1354,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000860810.1",
"gene_hgnc_id": 21862,
"gene_symbol": "DYNC2I1",
"hgvs_c": "c.1354C>G",
"hgvs_p": "p.Arg452Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530869.1",
"strand": true,
"transcript": "ENST00000860810.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1022,
"aa_ref": "R",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3653,
"cdna_start": 1642,
"cds_end": null,
"cds_length": 3069,
"cds_start": 1465,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000961350.1",
"gene_hgnc_id": 21862,
"gene_symbol": "DYNC2I1",
"hgvs_c": "c.1465C>G",
"hgvs_p": "p.Arg489Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631409.1",
"strand": true,
"transcript": "ENST00000961350.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1020,
"aa_ref": "R",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3850,
"cdna_start": 1704,
"cds_end": null,
"cds_length": 3063,
"cds_start": 1327,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001350914.2",
"gene_hgnc_id": 21862,
"gene_symbol": "DYNC2I1",
"hgvs_c": "c.1327C>G",
"hgvs_p": "p.Arg443Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337843.1",
"strand": true,
"transcript": "NM_001350914.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3562,
"cdna_start": 1416,
"cds_end": null,
"cds_length": 3021,
"cds_start": 1285,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000860812.1",
"gene_hgnc_id": 21862,
"gene_symbol": "DYNC2I1",
"hgvs_c": "c.1285C>G",
"hgvs_p": "p.Arg429Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530871.1",
"strand": true,
"transcript": "ENST00000860812.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 875,
"aa_ref": "R",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3733,
"cdna_start": 1587,
"cds_end": null,
"cds_length": 2628,
"cds_start": 892,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001350915.2",
"gene_hgnc_id": 21862,
"gene_symbol": "DYNC2I1",
"hgvs_c": "c.892C>G",
"hgvs_p": "p.Arg298Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337844.1",
"strand": true,
"transcript": "NM_001350915.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 650,
"aa_ref": "R",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3907,
"cdna_start": 1761,
"cds_end": null,
"cds_length": 1953,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001350917.2",
"gene_hgnc_id": 21862,
"gene_symbol": "DYNC2I1",
"hgvs_c": "c.217C>G",
"hgvs_p": "p.Arg73Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337846.1",
"strand": true,
"transcript": "NM_001350917.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 650,
"aa_ref": "R",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4026,
"cdna_start": 1880,
"cds_end": null,
"cds_length": 1953,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001350918.2",
"gene_hgnc_id": 21862,
"gene_symbol": "DYNC2I1",
"hgvs_c": "c.217C>G",
"hgvs_p": "p.Arg73Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337847.1",
"strand": true,
"transcript": "NM_001350918.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 579,
"aa_ref": "R",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3686,
"cdna_start": 1540,
"cds_end": null,
"cds_length": 1740,
"cds_start": 4,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001350916.2",
"gene_hgnc_id": 21862,
"gene_symbol": "DYNC2I1",
"hgvs_c": "c.4C>G",
"hgvs_p": "p.Arg2Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337845.1",
"strand": true,
"transcript": "NM_001350916.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1069,
"aa_ref": "R",
"aa_start": 492,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3798,
"cdna_start": 1652,
"cds_end": null,
"cds_length": 3210,
"cds_start": 1474,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_006716041.3",
"gene_hgnc_id": 21862,
"gene_symbol": "DYNC2I1",
"hgvs_c": "c.1474C>G",
"hgvs_p": "p.Arg492Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006716104.1",
"strand": true,
"transcript": "XM_006716041.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1069,
"aa_ref": "R",
"aa_start": 492,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3717,
"cdna_start": 1571,
"cds_end": null,
"cds_length": 3210,
"cds_start": 1474,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011516367.3",
"gene_hgnc_id": 21862,
"gene_symbol": "DYNC2I1",
"hgvs_c": "c.1474C>G",
"hgvs_p": "p.Arg492Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011514669.1",
"strand": true,
"transcript": "XM_011516367.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1066,
"aa_ref": "R",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3708,
"cdna_start": 1562,
"cds_end": null,
"cds_length": 3201,
"cds_start": 1465,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047420557.1",
"gene_hgnc_id": 21862,
"gene_symbol": "DYNC2I1",
"hgvs_c": "c.1465C>G",
"hgvs_p": "p.Arg489Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276513.1",
"strand": true,
"transcript": "XM_047420557.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1023,
"aa_ref": "R",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3780,
"cdna_start": 1634,
"cds_end": null,
"cds_length": 3072,
"cds_start": 1336,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011516369.3",
"gene_hgnc_id": 21862,
"gene_symbol": "DYNC2I1",
"hgvs_c": "c.1336C>G",
"hgvs_p": "p.Arg446Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011514671.1",
"strand": true,
"transcript": "XM_011516369.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1023,
"aa_ref": "R",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3818,
"cdna_start": 1672,
"cds_end": null,
"cds_length": 3072,
"cds_start": 1336,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 12,
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