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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: 2-149005165-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=149005165&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 149005165,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000435030.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "KIF5C",
"gene_hgnc_id": 6325,
"hgvs_c": "c.2374-228G>A",
"hgvs_p": null,
"transcript": "NM_004522.3",
"protein_id": "NP_004513.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 957,
"cds_start": -4,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6954,
"mane_select": "ENST00000435030.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "KIF5C",
"gene_hgnc_id": 6325,
"hgvs_c": "c.2374-228G>A",
"hgvs_p": null,
"transcript": "ENST00000435030.6",
"protein_id": "ENSP00000393379.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 957,
"cds_start": -4,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6954,
"mane_select": "NM_004522.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "KIF5C",
"gene_hgnc_id": 6325,
"hgvs_c": "n.2239-228G>A",
"hgvs_p": null,
"transcript": "ENST00000464066.6",
"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": 6428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KIF5C",
"gene_hgnc_id": 6325,
"hgvs_c": "n.652-228G>A",
"hgvs_p": null,
"transcript": "ENST00000482151.1",
"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": 4841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5C",
"gene_hgnc_id": 6325,
"hgvs_c": "n.96G>A",
"hgvs_p": null,
"transcript": "ENST00000676503.1",
"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": 4513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "KIF5C",
"gene_hgnc_id": 6325,
"hgvs_c": "c.2374-228G>A",
"hgvs_p": null,
"transcript": "ENST00000677891.1",
"protein_id": "ENSP00000503013.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 957,
"cds_start": -4,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "KIF5C",
"gene_hgnc_id": 6325,
"hgvs_c": "c.2371-228G>A",
"hgvs_p": null,
"transcript": "ENST00000677280.1",
"protein_id": "ENSP00000503955.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 956,
"cds_start": -4,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "KIF5C",
"gene_hgnc_id": 6325,
"hgvs_c": "c.2305-228G>A",
"hgvs_p": null,
"transcript": "ENST00000678056.1",
"protein_id": "ENSP00000503535.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 934,
"cds_start": -4,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "KIF5C",
"gene_hgnc_id": 6325,
"hgvs_c": "c.2374-2798G>A",
"hgvs_p": null,
"transcript": "ENST00000677843.1",
"protein_id": "ENSP00000504362.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 933,
"cds_start": -4,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "KIF5C",
"gene_hgnc_id": 6325,
"hgvs_c": "c.1678-228G>A",
"hgvs_p": null,
"transcript": "ENST00000679129.1",
"protein_id": "ENSP00000504291.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 725,
"cds_start": -4,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
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"cdna_length": 2661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "KIF5C",
"gene_hgnc_id": 6325,
"hgvs_c": "c.1030-228G>A",
"hgvs_p": null,
"transcript": "ENST00000677443.1",
"protein_id": "ENSP00000503234.1",
"transcript_support_level": null,
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"cds_start": -4,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 10,
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"gene_symbol": "KIF5C",
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"hgvs_c": "c.1030-228G>A",
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"transcript": "ENST00000678720.1",
"protein_id": "ENSP00000503797.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "KIF5C",
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"hgvs_c": "c.1030-228G>A",
"hgvs_p": null,
"transcript": "ENST00000678856.1",
"protein_id": "ENSP00000503589.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 10,
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"gene_symbol": "KIF5C",
"gene_hgnc_id": 6325,
"hgvs_c": "c.1027-228G>A",
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"transcript": "ENST00000677080.1",
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},
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],
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"gene_symbol": "KIF5C",
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"hgvs_c": "n.1678-228G>A",
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"transcript": "ENST00000676677.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 10,
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"gene_symbol": "KIF5C",
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"hgvs_c": "n.1181-228G>A",
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},
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],
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"gene_symbol": "KIF5C",
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"hgvs_c": "n.1612-228G>A",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "KIF5C",
"gene_hgnc_id": 6325,
"hgvs_c": "n.1573-228G>A",
"hgvs_p": null,
"transcript": "ENST00000677474.1",
"protein_id": null,
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},
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "KIF5C",
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"hgvs_c": "n.3571-228G>A",
"hgvs_p": null,
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},
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],
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"gene_symbol": "KIF5C",
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},
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],
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"gene_symbol": "KIF5C",
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"hgvs_c": "n.*197-228G>A",
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},
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KIF5C",
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"hgvs_c": "n.539-228G>A",
"hgvs_p": null,
"transcript": "ENST00000678184.1",
"protein_id": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "KIF5C",
"gene_hgnc_id": 6325,
"hgvs_c": "n.*1460-228G>A",
"hgvs_p": null,
"transcript": "ENST00000678636.1",
"protein_id": "ENSP00000503196.1",
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},
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}
],
"gene_symbol": "KIF5C",
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"dbsnp": "rs6435220",
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"computational_score_selected": -0.9800000190734863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
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"bayesdelnoaf_score": -0.98,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.992,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000435030.6",
"gene_symbol": "KIF5C",
"hgnc_id": 6325,
"effects": [
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],
"inheritance_mode": "AD",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}