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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: 12-56225635-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56225635&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 56225635,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_024068.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala",
"transcript": "NM_024068.4",
"protein_id": "NP_076973.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 211,
"cds_start": 230,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000267023.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024068.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala",
"transcript": "ENST00000267023.9",
"protein_id": "ENSP00000267023.4",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 211,
"cds_start": 230,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024068.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000267023.9"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala",
"transcript": "ENST00000380198.6",
"protein_id": "ENSP00000369545.2",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 211,
"cds_start": 230,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380198.6"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala",
"transcript": "ENST00000341463.5",
"protein_id": "ENSP00000368862.3",
"transcript_support_level": 3,
"aa_start": 77,
"aa_end": null,
"aa_length": 211,
"cds_start": 230,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341463.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala",
"transcript": "ENST00000882054.1",
"protein_id": "ENSP00000552113.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 211,
"cds_start": 230,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882054.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala",
"transcript": "ENST00000882055.1",
"protein_id": "ENSP00000552114.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 211,
"cds_start": 230,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882055.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala",
"transcript": "ENST00000934237.1",
"protein_id": "ENSP00000604296.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 211,
"cds_start": 230,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934237.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala",
"transcript": "ENST00000934238.1",
"protein_id": "ENSP00000604297.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 211,
"cds_start": 230,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934238.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala",
"transcript": "ENST00000934241.1",
"protein_id": "ENSP00000604300.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 211,
"cds_start": 230,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934241.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala",
"transcript": "ENST00000959362.1",
"protein_id": "ENSP00000629421.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 211,
"cds_start": 230,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959362.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala",
"transcript": "ENST00000934239.1",
"protein_id": "ENSP00000604298.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 209,
"cds_start": 230,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934239.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala",
"transcript": "ENST00000399713.6",
"protein_id": "ENSP00000408616.1",
"transcript_support_level": 5,
"aa_start": 77,
"aa_end": null,
"aa_length": 150,
"cds_start": 230,
"cds_end": null,
"cds_length": 455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399713.6"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala",
"transcript": "ENST00000447747.5",
"protein_id": "ENSP00000413902.1",
"transcript_support_level": 5,
"aa_start": 77,
"aa_end": null,
"aa_length": 143,
"cds_start": 230,
"cds_end": null,
"cds_length": 433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447747.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.305T>C",
"hgvs_p": "p.Val102Ala",
"transcript": "XM_047429531.1",
"protein_id": "XP_047285487.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 236,
"cds_start": 305,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429531.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.278T>C",
"hgvs_p": "p.Val93Ala",
"transcript": "XM_005269147.4",
"protein_id": "XP_005269204.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 227,
"cds_start": 278,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005269147.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala",
"transcript": "XM_005269149.6",
"protein_id": "XP_005269206.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 211,
"cds_start": 230,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005269149.6"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala",
"transcript": "XM_047429532.1",
"protein_id": "XP_047285488.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 211,
"cds_start": 230,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429532.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala",
"transcript": "XM_047429533.1",
"protein_id": "XP_047285489.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 211,
"cds_start": 230,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429533.1"
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.218+124T>C",
"hgvs_p": null,
"transcript": "ENST00000934240.1",
"protein_id": "ENSP00000604299.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 187,
"cds_start": null,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934240.1"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.218+124T>C",
"hgvs_p": null,
"transcript": "ENST00000934242.1",
"protein_id": "ENSP00000604301.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 187,
"cds_start": null,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934242.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "n.730T>C",
"hgvs_p": null,
"transcript": "ENST00000479016.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000479016.2"
}
],
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3684077560901642,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.185,
"revel_prediction": "Benign",
"alphamissense_score": 0.92,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.778,
"phylop100way_prediction": "Pathogenic",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024068.4",
"gene_symbol": "NABP2",
"hgnc_id": 28412,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala"
}
],
"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
}