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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: 17-4999663-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=4999663&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "KIF1C",
"hgnc_id": 6317,
"hgvs_c": "c.-148-187G>A",
"hgvs_p": null,
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -14,
"transcript": "NM_006612.6",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BA1",
"acmg_score": -14,
"allele_count_reference_population": 120696,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.7,
"chr": "17",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.699999988079071,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1103,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7917,
"cdna_start": null,
"cds_end": null,
"cds_length": 3312,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006612.6",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.-148-187G>A",
"hgvs_p": null,
"intron_rank": 1,
"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": null,
"aa_end": null,
"aa_length": 1103,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7917,
"cdna_start": null,
"cds_end": null,
"cds_length": 3312,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000320785.10",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.-148-187G>A",
"hgvs_p": null,
"intron_rank": 1,
"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": null,
"aa_end": null,
"aa_length": 1103,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5898,
"cdna_start": null,
"cds_end": null,
"cds_length": 3312,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000919365.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.-335G>A",
"hgvs_p": null,
"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": null,
"aa_end": null,
"aa_length": 1113,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4250,
"cdna_start": null,
"cds_end": null,
"cds_length": 3342,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000948910.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.-148-187G>A",
"hgvs_p": null,
"intron_rank": 1,
"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": null,
"aa_end": null,
"aa_length": 1113,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4099,
"cdna_start": null,
"cds_end": null,
"cds_length": 3342,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000948913.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.-27-557G>A",
"hgvs_p": null,
"intron_rank": 1,
"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": null,
"aa_end": null,
"aa_length": 1105,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4226,
"cdna_start": null,
"cds_end": null,
"cds_length": 3318,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894742.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.-148-187G>A",
"hgvs_p": null,
"intron_rank": 1,
"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": null,
"aa_end": null,
"aa_length": 1103,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4507,
"cdna_start": null,
"cds_end": null,
"cds_length": 3312,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894736.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.-148-187G>A",
"hgvs_p": null,
"intron_rank": 2,
"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": null,
"aa_end": null,
"aa_length": 1103,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4368,
"cdna_start": null,
"cds_end": null,
"cds_length": 3312,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894737.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.-148-187G>A",
"hgvs_p": null,
"intron_rank": 2,
"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": null,
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"aa_length": 1103,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4123,
"cdna_start": null,
"cds_end": null,
"cds_length": 3312,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894738.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.-27-557G>A",
"hgvs_p": null,
"intron_rank": 1,
"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
},
{
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"aa_length": 1103,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4290,
"cdna_start": null,
"cds_end": null,
"cds_length": 3312,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894741.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.-148-187G>A",
"hgvs_p": null,
"intron_rank": 2,
"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
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4341,
"cdna_start": null,
"cds_end": null,
"cds_length": 3312,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
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"feature": "ENST00000894743.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.-148-187G>A",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564802.1",
"strand": true,
"transcript": "ENST00000894743.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
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"feature": "ENST00000894746.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000564805.1",
"strand": true,
"transcript": "ENST00000894746.1",
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},
{
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],
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"feature": "ENST00000894747.1",
"gene_hgnc_id": 6317,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000564806.1",
"strand": true,
"transcript": "ENST00000894747.1",
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},
{
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"biotype": "protein_coding",
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"cdna_length": 4034,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 23,
"exon_rank": null,
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"feature": "ENST00000894748.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.-148-187G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000564807.1",
"strand": true,
"transcript": "ENST00000894748.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 23,
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"feature": "ENST00000919364.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.-136-199G>A",
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"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000589423.1",
"strand": true,
"transcript": "ENST00000919364.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 3312,
"cds_start": null,
"consequences": [
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],
"exon_count": 23,
"exon_rank": null,
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"feature": "ENST00000919366.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.-148-187G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000589425.1",
"strand": true,
"transcript": "ENST00000919366.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 3312,
"cds_start": null,
"consequences": [
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],
"exon_count": 24,
"exon_rank": null,
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"feature": "ENST00000948912.1",
"gene_hgnc_id": 6317,
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"hgvs_c": "c.-148-187G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000618971.1",
"strand": true,
"transcript": "ENST00000948912.1",
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},
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 24,
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"feature": "ENST00000948914.1",
"gene_hgnc_id": 6317,
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"hgvs_c": "c.-148-187G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000618973.1",
"strand": true,
"transcript": "ENST00000948914.1",
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},
{
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"consequences": [
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],
"exon_count": 23,
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"feature": "ENST00000948915.1",
"gene_hgnc_id": 6317,
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"hgvs_c": "c.-148-187G>A",
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"protein_coding": true,
"protein_id": "ENSP00000618974.1",
"strand": true,
"transcript": "ENST00000948915.1",
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},
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"cdna_end": null,
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"cds_end": null,
"cds_length": 3312,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000948916.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.-148-187G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618975.1",
"strand": true,
"transcript": "ENST00000948916.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 3312,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000948917.1",
"gene_hgnc_id": 6317,
"gene_symbol": "KIF1C",
"hgvs_c": "c.-148-187G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618976.1",
"strand": true,
"transcript": "ENST00000948917.1",
"transcript_support_level": null
},
{
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