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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: 10-123009030-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=123009030&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 123009030,
"ref": "A",
"alt": "T",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001330174.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"initiator_codon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADSB",
"gene_hgnc_id": 91,
"hgvs_c": "c.1A>T",
"hgvs_p": "p.Met1?",
"transcript": "NM_001609.4",
"protein_id": "NP_001600.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 432,
"cds_start": 1,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358776.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001609.4"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"initiator_codon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADSB",
"gene_hgnc_id": 91,
"hgvs_c": "c.1A>T",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000358776.7",
"protein_id": "ENSP00000357873.3",
"transcript_support_level": 1,
"aa_start": 1,
"aa_end": null,
"aa_length": 432,
"cds_start": 1,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001609.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358776.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADSB",
"gene_hgnc_id": 91,
"hgvs_c": "c.-205A>T",
"hgvs_p": null,
"transcript": "NM_001330174.3",
"protein_id": "NP_001317103.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 330,
"cds_start": null,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330174.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADSB",
"gene_hgnc_id": 91,
"hgvs_c": "c.-201A>T",
"hgvs_p": null,
"transcript": "ENST00000368869.8",
"protein_id": "ENSP00000357862.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 330,
"cds_start": null,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368869.8"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"initiator_codon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADSB",
"gene_hgnc_id": 91,
"hgvs_c": "c.1A>T",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000908753.1",
"protein_id": "ENSP00000578812.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 401,
"cds_start": 1,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908753.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"initiator_codon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADSB",
"gene_hgnc_id": 91,
"hgvs_c": "c.1A>T",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000908750.1",
"protein_id": "ENSP00000578809.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 386,
"cds_start": 1,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908750.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"initiator_codon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADSB",
"gene_hgnc_id": 91,
"hgvs_c": "c.1A>T",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000908754.1",
"protein_id": "ENSP00000578813.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 375,
"cds_start": 1,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908754.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"initiator_codon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADSB",
"gene_hgnc_id": 91,
"hgvs_c": "c.1A>T",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000908751.1",
"protein_id": "ENSP00000578810.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 363,
"cds_start": 1,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908751.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"initiator_codon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADSB",
"gene_hgnc_id": 91,
"hgvs_c": "c.1A>T",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000908752.1",
"protein_id": "ENSP00000578811.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 306,
"cds_start": 1,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908752.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADSB",
"gene_hgnc_id": 91,
"hgvs_c": "c.-205A>T",
"hgvs_p": null,
"transcript": "NM_001330174.3",
"protein_id": "NP_001317103.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 330,
"cds_start": null,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330174.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADSB",
"gene_hgnc_id": 91,
"hgvs_c": "c.-201A>T",
"hgvs_p": null,
"transcript": "ENST00000368869.8",
"protein_id": "ENSP00000357862.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 330,
"cds_start": null,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368869.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF5",
"gene_hgnc_id": 14283,
"hgvs_c": "c.-534T>A",
"hgvs_p": null,
"transcript": "NM_001372123.1",
"protein_id": "NP_001359052.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 419,
"cds_start": null,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368886.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372123.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF5",
"gene_hgnc_id": 14283,
"hgvs_c": "c.-534T>A",
"hgvs_p": null,
"transcript": "ENST00000368886.10",
"protein_id": "ENSP00000357881.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 419,
"cds_start": null,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001372123.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368886.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF5",
"gene_hgnc_id": 14283,
"hgvs_c": "c.-534T>A",
"hgvs_p": null,
"transcript": "ENST00000904853.1",
"protein_id": "ENSP00000574912.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 427,
"cds_start": null,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904853.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF5",
"gene_hgnc_id": 14283,
"hgvs_c": "c.-521T>A",
"hgvs_p": null,
"transcript": "NM_001372125.1",
"protein_id": "NP_001359054.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 419,
"cds_start": null,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372125.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF5",
"gene_hgnc_id": 14283,
"hgvs_c": "c.-383T>A",
"hgvs_p": null,
"transcript": "NM_001372126.1",
"protein_id": "NP_001359055.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 419,
"cds_start": null,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372126.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF5",
"gene_hgnc_id": 14283,
"hgvs_c": "c.-642T>A",
"hgvs_p": null,
"transcript": "NM_001372127.1",
"protein_id": "NP_001359056.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 419,
"cds_start": null,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372127.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF5",
"gene_hgnc_id": 14283,
"hgvs_c": "c.-495T>A",
"hgvs_p": null,
"transcript": "NM_001372128.1",
"protein_id": "NP_001359057.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 419,
"cds_start": null,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372128.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF5",
"gene_hgnc_id": 14283,
"hgvs_c": "c.-508T>A",
"hgvs_p": null,
"transcript": "ENST00000904850.1",
"protein_id": "ENSP00000574909.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 419,
"cds_start": null,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904850.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF5",
"gene_hgnc_id": 14283,
"hgvs_c": "c.-2051T>A",
"hgvs_p": null,
"transcript": "ENST00000904851.1",
"protein_id": "ENSP00000574910.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 419,
"cds_start": null,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904851.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF5",
"gene_hgnc_id": 14283,
"hgvs_c": "c.-642T>A",
"hgvs_p": null,
"transcript": "ENST00000904852.1",
"protein_id": "ENSP00000574911.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 419,
"cds_start": null,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904852.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF5",
"gene_hgnc_id": 14283,
"hgvs_c": "c.-495T>A",
"hgvs_p": null,
"transcript": "ENST00000904854.1",
"protein_id": "ENSP00000574913.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 419,
"cds_start": null,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904854.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": 0.37,
"bayesdelnoaf_prediction": "Pathogenic",
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"spliceai_max_prediction": "Benign",
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{
"score": 6,
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],
"verdict": "Likely_pathogenic",
"transcript": "NM_001330174.3",
"gene_symbol": "ACADSB",
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"effects": [
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},
{
"score": 6,
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],
"verdict": "Likely_pathogenic",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}