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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: 17-5003999-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=5003999&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "KIF1C",
"hgnc_id": 6317,
"hgvs_c": "c.866A>C",
"hgvs_p": "p.Gln289Pro",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_006612.6",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_score": -13,
"allele_count_reference_population": 2261,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0685,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.05,
"chr": "17",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Hereditary spastic paraplegia,Spastic ataxia 2,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.054893940687179565,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7917,
"cdna_start": 1221,
"cds_end": null,
"cds_length": 3312,
"cds_start": 866,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_006612.6",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.Gln289Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000320785.10",
"protein_coding": true,
"protein_id": "NP_006603.2",
"strand": true,
"transcript": "NM_006612.6",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7917,
"cdna_start": 1221,
"cds_end": null,
"cds_length": 3312,
"cds_start": 866,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000320785.10",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.Gln289Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006612.6",
"protein_coding": true,
"protein_id": "ENSP00000320821.5",
"strand": true,
"transcript": "ENST00000320785.10",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1113,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4250,
"cdna_start": 1231,
"cds_end": null,
"cds_length": 3342,
"cds_start": 866,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000948910.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.Gln289Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618969.1",
"strand": true,
"transcript": "ENST00000948910.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1113,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4099,
"cdna_start": 1072,
"cds_end": null,
"cds_length": 3342,
"cds_start": 866,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 22,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000948913.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.Gln289Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618972.1",
"strand": true,
"transcript": "ENST00000948913.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1105,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4226,
"cdna_start": 1221,
"cds_end": null,
"cds_length": 3318,
"cds_start": 866,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000894742.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.Gln289Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564801.1",
"strand": true,
"transcript": "ENST00000894742.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1105,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4160,
"cdna_start": 1157,
"cds_end": null,
"cds_length": 3318,
"cds_start": 866,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 22,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000948919.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.Gln289Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618978.1",
"strand": true,
"transcript": "ENST00000948919.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4507,
"cdna_start": 1511,
"cds_end": null,
"cds_length": 3312,
"cds_start": 866,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 24,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000894736.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.Gln289Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564795.1",
"strand": true,
"transcript": "ENST00000894736.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4368,
"cdna_start": 1370,
"cds_end": null,
"cds_length": 3312,
"cds_start": 866,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 24,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000894737.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.Gln289Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564796.1",
"strand": true,
"transcript": "ENST00000894737.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4123,
"cdna_start": 1125,
"cds_end": null,
"cds_length": 3312,
"cds_start": 866,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 22,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000894738.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.Gln289Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564797.1",
"strand": true,
"transcript": "ENST00000894738.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4290,
"cdna_start": 1292,
"cds_end": null,
"cds_length": 3312,
"cds_start": 866,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 24,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000894741.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.Gln289Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564800.1",
"strand": true,
"transcript": "ENST00000894741.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4341,
"cdna_start": 1343,
"cds_end": null,
"cds_length": 3312,
"cds_start": 866,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 24,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000894743.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.Gln289Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564802.1",
"strand": true,
"transcript": "ENST00000894743.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4146,
"cdna_start": 1148,
"cds_end": null,
"cds_length": 3312,
"cds_start": 866,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000894746.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.Gln289Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564805.1",
"strand": true,
"transcript": "ENST00000894746.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4517,
"cdna_start": 1519,
"cds_end": null,
"cds_length": 3312,
"cds_start": 866,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000894747.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.Gln289Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564806.1",
"strand": true,
"transcript": "ENST00000894747.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4034,
"cdna_start": 1040,
"cds_end": null,
"cds_length": 3312,
"cds_start": 866,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000894748.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.Gln289Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564807.1",
"strand": true,
"transcript": "ENST00000894748.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4211,
"cdna_start": 1213,
"cds_end": null,
"cds_length": 3312,
"cds_start": 866,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000919364.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.Gln289Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589423.1",
"strand": true,
"transcript": "ENST00000919364.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5898,
"cdna_start": 2903,
"cds_end": null,
"cds_length": 3312,
"cds_start": 866,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 22,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000919365.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.Gln289Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589424.1",
"strand": true,
"transcript": "ENST00000919365.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4129,
"cdna_start": 1131,
"cds_end": null,
"cds_length": 3312,
"cds_start": 866,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000919366.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.Gln289Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589425.1",
"strand": true,
"transcript": "ENST00000919366.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4294,
"cdna_start": 1298,
"cds_end": null,
"cds_length": 3312,
"cds_start": 866,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 24,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000948912.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.Gln289Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618971.1",
"strand": true,
"transcript": "ENST00000948912.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4263,
"cdna_start": 1266,
"cds_end": null,
"cds_length": 3312,
"cds_start": 866,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 24,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000948914.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.Gln289Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618973.1",
"strand": true,
"transcript": "ENST00000948914.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4129,
"cdna_start": 1135,
"cds_end": null,
"cds_length": 3312,
"cds_start": 866,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000948915.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.Gln289Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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