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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: 17-5002804-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=5002804&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PP3_Moderate",
"BP6",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KIF1C",
"hgnc_id": 6317,
"hgvs_c": "c.682C>T",
"hgvs_p": "p.Arg228Cys",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_006612.6",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BP6,BS1",
"acmg_score": -3,
"allele_count_reference_population": 29,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1048,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.07,
"chr": "17",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Inborn genetic diseases,Microcephaly,Spastic ataxia 2",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8618263006210327,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "R",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7917,
"cdna_start": 1037,
"cds_end": null,
"cds_length": 3312,
"cds_start": 682,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_006612.6",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.682C>T",
"hgvs_p": "p.Arg228Cys",
"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": "C",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "R",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7917,
"cdna_start": 1037,
"cds_end": null,
"cds_length": 3312,
"cds_start": 682,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000320785.10",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.682C>T",
"hgvs_p": "p.Arg228Cys",
"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": "C",
"aa_end": null,
"aa_length": 1113,
"aa_ref": "R",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4250,
"cdna_start": 1047,
"cds_end": null,
"cds_length": 3342,
"cds_start": 682,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000948910.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.682C>T",
"hgvs_p": "p.Arg228Cys",
"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": "C",
"aa_end": null,
"aa_length": 1113,
"aa_ref": "R",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4099,
"cdna_start": 888,
"cds_end": null,
"cds_length": 3342,
"cds_start": 682,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000948913.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.682C>T",
"hgvs_p": "p.Arg228Cys",
"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": "C",
"aa_end": null,
"aa_length": 1105,
"aa_ref": "R",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4226,
"cdna_start": 1037,
"cds_end": null,
"cds_length": 3318,
"cds_start": 682,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000894742.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.682C>T",
"hgvs_p": "p.Arg228Cys",
"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": "C",
"aa_end": null,
"aa_length": 1105,
"aa_ref": "R",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4160,
"cdna_start": 973,
"cds_end": null,
"cds_length": 3318,
"cds_start": 682,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000948919.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.682C>T",
"hgvs_p": "p.Arg228Cys",
"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": "C",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "R",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4507,
"cdna_start": 1327,
"cds_end": null,
"cds_length": 3312,
"cds_start": 682,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000894736.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.682C>T",
"hgvs_p": "p.Arg228Cys",
"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": "C",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "R",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4368,
"cdna_start": 1186,
"cds_end": null,
"cds_length": 3312,
"cds_start": 682,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000894737.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.682C>T",
"hgvs_p": "p.Arg228Cys",
"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": "C",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "R",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4123,
"cdna_start": 941,
"cds_end": null,
"cds_length": 3312,
"cds_start": 682,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000894738.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.682C>T",
"hgvs_p": "p.Arg228Cys",
"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": "C",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "R",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4290,
"cdna_start": 1108,
"cds_end": null,
"cds_length": 3312,
"cds_start": 682,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000894741.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.682C>T",
"hgvs_p": "p.Arg228Cys",
"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": "C",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "R",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4341,
"cdna_start": 1159,
"cds_end": null,
"cds_length": 3312,
"cds_start": 682,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000894743.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.682C>T",
"hgvs_p": "p.Arg228Cys",
"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": "C",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "R",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4146,
"cdna_start": 964,
"cds_end": null,
"cds_length": 3312,
"cds_start": 682,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000894746.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.682C>T",
"hgvs_p": "p.Arg228Cys",
"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
},
{
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"aa_length": 1103,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4517,
"cdna_start": 1335,
"cds_end": null,
"cds_length": 3312,
"cds_start": 682,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000894747.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.682C>T",
"hgvs_p": "p.Arg228Cys",
"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": "C",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "R",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4034,
"cdna_start": 856,
"cds_end": null,
"cds_length": 3312,
"cds_start": 682,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000894748.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.682C>T",
"hgvs_p": "p.Arg228Cys",
"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": "C",
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"aa_length": 1103,
"aa_ref": "R",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4211,
"cdna_start": 1029,
"cds_end": null,
"cds_length": 3312,
"cds_start": 682,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000919364.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.682C>T",
"hgvs_p": "p.Arg228Cys",
"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": "C",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5898,
"cdna_start": 2719,
"cds_end": null,
"cds_length": 3312,
"cds_start": 682,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000919365.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.682C>T",
"hgvs_p": "p.Arg228Cys",
"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": "C",
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"aa_length": 1103,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4129,
"cdna_start": 947,
"cds_end": null,
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"cds_start": 682,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000919366.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.682C>T",
"hgvs_p": "p.Arg228Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589425.1",
"strand": true,
"transcript": "ENST00000919366.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4294,
"cdna_start": 1114,
"cds_end": null,
"cds_length": 3312,
"cds_start": 682,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000948912.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.682C>T",
"hgvs_p": "p.Arg228Cys",
"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": "C",
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4263,
"cdna_start": 1082,
"cds_end": null,
"cds_length": 3312,
"cds_start": 682,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000948914.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.682C>T",
"hgvs_p": "p.Arg228Cys",
"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": "C",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "R",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4129,
"cdna_start": 951,
"cds_end": null,
"cds_length": 3312,
"cds_start": 682,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000948915.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.682C>T",
"hgvs_p": "p.Arg228Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618974.1",
"strand": true,
"transcript": "ENST00000948915.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "R",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4082,
"cdna_start": 902,
"cds_end": null,
"cds_length": 3312,
"cds_start": 682,
"consequences": [
"missense_variant"
],
"exon_count": 23,
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