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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: 4-73483441-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=73483441&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 73483441,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001133.2",
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AFM",
"gene_hgnc_id": 316,
"hgvs_c": "c.89-500G>A",
"hgvs_p": null,
"transcript": "NM_001133.2",
"protein_id": "NP_001124.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 599,
"cds_start": null,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000226355.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001133.2"
},
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AFM",
"gene_hgnc_id": 316,
"hgvs_c": "c.89-500G>A",
"hgvs_p": null,
"transcript": "ENST00000226355.5",
"protein_id": "ENSP00000226355.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 599,
"cds_start": null,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001133.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000226355.5"
},
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AFM",
"gene_hgnc_id": 316,
"hgvs_c": "c.89-500G>A",
"hgvs_p": null,
"transcript": "ENST00000853605.1",
"protein_id": "ENSP00000523664.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 623,
"cds_start": null,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853605.1"
},
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AFM",
"gene_hgnc_id": 316,
"hgvs_c": "c.89-500G>A",
"hgvs_p": null,
"transcript": "ENST00000853610.1",
"protein_id": "ENSP00000523669.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 606,
"cds_start": null,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853610.1"
},
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AFM",
"gene_hgnc_id": 316,
"hgvs_c": "c.89-500G>A",
"hgvs_p": null,
"transcript": "ENST00000853611.1",
"protein_id": "ENSP00000523670.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 606,
"cds_start": null,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853611.1"
},
{
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AFM",
"gene_hgnc_id": 316,
"hgvs_c": "c.89-500G>A",
"hgvs_p": null,
"transcript": "ENST00000853602.1",
"protein_id": "ENSP00000523661.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 599,
"cds_start": null,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853602.1"
},
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AFM",
"gene_hgnc_id": 316,
"hgvs_c": "c.89-500G>A",
"hgvs_p": null,
"transcript": "ENST00000853600.1",
"protein_id": "ENSP00000523659.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 595,
"cds_start": null,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853600.1"
},
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AFM",
"gene_hgnc_id": 316,
"hgvs_c": "c.89-500G>A",
"hgvs_p": null,
"transcript": "ENST00000853614.1",
"protein_id": "ENSP00000523673.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 594,
"cds_start": null,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853614.1"
},
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AFM",
"gene_hgnc_id": 316,
"hgvs_c": "c.89-500G>A",
"hgvs_p": null,
"transcript": "ENST00000853603.1",
"protein_id": "ENSP00000523662.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 579,
"cds_start": null,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853603.1"
},
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AFM",
"gene_hgnc_id": 316,
"hgvs_c": "c.89-500G>A",
"hgvs_p": null,
"transcript": "ENST00000853613.1",
"protein_id": "ENSP00000523672.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 579,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853613.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
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"gene_symbol": "AFM",
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"hgvs_c": "c.89-500G>A",
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"transcript": "ENST00000853609.1",
"protein_id": "ENSP00000523668.1",
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"cds_start": null,
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"cdna_start": null,
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"feature": "ENST00000853609.1"
},
{
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"strand": true,
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"intron_variant"
],
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"gene_symbol": "AFM",
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"hgvs_c": "c.89-500G>A",
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"transcript": "ENST00000853612.1",
"protein_id": "ENSP00000523671.1",
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"feature": "ENST00000853612.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "AFM",
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"hgvs_c": "c.89-500G>A",
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"transcript": "ENST00000853601.1",
"protein_id": "ENSP00000523660.1",
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"feature": "ENST00000853601.1"
},
{
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"protein_coding": true,
"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "AFM",
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"hgvs_c": "c.89-500G>A",
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"transcript": "ENST00000853607.1",
"protein_id": "ENSP00000523666.1",
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"feature": "ENST00000853607.1"
},
{
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"protein_coding": true,
"strand": true,
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"intron_variant"
],
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"exon_count": 13,
"intron_rank": 1,
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"gene_symbol": "AFM",
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"hgvs_c": "c.89-500G>A",
"hgvs_p": null,
"transcript": "ENST00000853615.1",
"protein_id": "ENSP00000523674.1",
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"feature": "ENST00000853615.1"
},
{
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],
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"hgvs_c": "c.89-500G>A",
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},
{
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"strand": true,
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],
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"intron_rank": 1,
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"gene_symbol": "AFM",
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"hgvs_c": "c.89-500G>A",
"hgvs_p": null,
"transcript": "ENST00000853606.1",
"protein_id": "ENSP00000523665.1",
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"feature": "ENST00000853606.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 1,
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"gene_symbol": "AFM",
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"hgvs_c": "c.89-500G>A",
"hgvs_p": null,
"transcript": "ENST00000853604.1",
"protein_id": "ENSP00000523663.1",
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},
{
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"strand": true,
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],
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"protein_id": "XP_016863331.1",
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},
{
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],
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"exon_count": 11,
"intron_rank": 1,
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"gene_symbol": "AFM",
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"hgvs_c": "c.89-500G>A",
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"feature": "XM_017007843.3"
},
{
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],
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"intron_rank": 1,
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"hgvs_c": "c.89-500G>A",
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"transcript": "XM_017007844.3",
"protein_id": "XP_016863333.1",
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_017007844.3"
}
],
"gene_symbol": "AFM",
"gene_hgnc_id": 316,
"dbsnp": "rs1894292",
"frequency_reference_population": 0.41830546,
"hom_count_reference_population": 13849,
"allele_count_reference_population": 63600,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.418305,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 63600,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 13849,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.949999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.95,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.007,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001133.2",
"gene_symbol": "AFM",
"hgnc_id": 316,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.89-500G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}