← Back to variant description
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: 14-92486738-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=92486738&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC24A4",
"hgnc_id": 10978,
"hgvs_c": "c.1495A>T",
"hgvs_p": "p.Ser499Cys",
"inheritance_mode": "AD,AR",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_153646.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate,PP5",
"acmg_score": 5,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.9918,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.34,
"chr": "14",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Amelogenesis imperfecta hypomaturation type 2A5",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9172900915145874,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 622,
"aa_ref": "S",
"aa_start": 499,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10388,
"cdna_start": 2161,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1495,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_153646.4",
"gene_hgnc_id": 10978,
"gene_symbol": "SLC24A4",
"hgvs_c": "c.1495A>T",
"hgvs_p": "p.Ser499Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000532405.6",
"protein_coding": true,
"protein_id": "NP_705932.2",
"strand": true,
"transcript": "NM_153646.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 622,
"aa_ref": "S",
"aa_start": 499,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10388,
"cdna_start": 2161,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1495,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000532405.6",
"gene_hgnc_id": 10978,
"gene_symbol": "SLC24A4",
"hgvs_c": "c.1495A>T",
"hgvs_p": "p.Ser499Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_153646.4",
"protein_coding": true,
"protein_id": "ENSP00000431840.1",
"strand": true,
"transcript": "ENST00000532405.6",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 558,
"aa_ref": "S",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4417,
"cdna_start": 1420,
"cds_end": null,
"cds_length": 1677,
"cds_start": 1303,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000393265.6",
"gene_hgnc_id": 10978,
"gene_symbol": "SLC24A4",
"hgvs_c": "c.1303A>T",
"hgvs_p": "p.Ser435Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376948.2",
"strand": true,
"transcript": "ENST00000393265.6",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 463,
"aa_ref": "S",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4187,
"cdna_start": 1091,
"cds_end": null,
"cds_length": 1392,
"cds_start": 1090,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000525557.5",
"gene_hgnc_id": 10978,
"gene_symbol": "SLC24A4",
"hgvs_c": "c.1090A>T",
"hgvs_p": "p.Ser364Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432464.1",
"strand": true,
"transcript": "ENST00000525557.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4747,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000526482.1",
"gene_hgnc_id": 10978,
"gene_symbol": "SLC24A4",
"hgvs_c": "n.1749A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000526482.1",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 622,
"aa_ref": "S",
"aa_start": 499,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9846,
"cdna_start": 1619,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1495,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001378620.1",
"gene_hgnc_id": 10978,
"gene_symbol": "SLC24A4",
"hgvs_c": "c.1495A>T",
"hgvs_p": "p.Ser499Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365549.1",
"strand": true,
"transcript": "NM_001378620.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 622,
"aa_ref": "S",
"aa_start": 499,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2664,
"cdna_start": 1618,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1495,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000676001.1",
"gene_hgnc_id": 10978,
"gene_symbol": "SLC24A4",
"hgvs_c": "c.1495A>T",
"hgvs_p": "p.Ser499Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502715.1",
"strand": true,
"transcript": "ENST00000676001.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 603,
"aa_ref": "S",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10331,
"cdna_start": 2104,
"cds_end": null,
"cds_length": 1812,
"cds_start": 1438,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001425254.1",
"gene_hgnc_id": 10978,
"gene_symbol": "SLC24A4",
"hgvs_c": "c.1438A>T",
"hgvs_p": "p.Ser480Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412183.1",
"strand": true,
"transcript": "NM_001425254.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 603,
"aa_ref": "S",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9789,
"cdna_start": 1562,
"cds_end": null,
"cds_length": 1812,
"cds_start": 1438,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_153647.4",
"gene_hgnc_id": 10978,
"gene_symbol": "SLC24A4",
"hgvs_c": "c.1438A>T",
"hgvs_p": "p.Ser480Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_705933.2",
"strand": true,
"transcript": "NM_153647.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 603,
"aa_ref": "S",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4531,
"cdna_start": 1534,
"cds_end": null,
"cds_length": 1812,
"cds_start": 1438,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000531433.5",
"gene_hgnc_id": 10978,
"gene_symbol": "SLC24A4",
"hgvs_c": "c.1438A>T",
"hgvs_p": "p.Ser480Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433302.1",
"strand": true,
"transcript": "ENST00000531433.5",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 558,
"aa_ref": "S",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9647,
"cdna_start": 1420,
"cds_end": null,
"cds_length": 1677,
"cds_start": 1303,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_153648.4",
"gene_hgnc_id": 10978,
"gene_symbol": "SLC24A4",
"hgvs_c": "c.1303A>T",
"hgvs_p": "p.Ser435Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_705934.1",
"strand": true,
"transcript": "NM_153648.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 669,
"aa_ref": "S",
"aa_start": 546,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10529,
"cdna_start": 2302,
"cds_end": null,
"cds_length": 2010,
"cds_start": 1636,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_011536436.3",
"gene_hgnc_id": 10978,
"gene_symbol": "SLC24A4",
"hgvs_c": "c.1636A>T",
"hgvs_p": "p.Ser546Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534738.1",
"strand": true,
"transcript": "XM_011536436.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 650,
"aa_ref": "S",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10472,
"cdna_start": 2245,
"cds_end": null,
"cds_length": 1953,
"cds_start": 1579,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_011536437.3",
"gene_hgnc_id": 10978,
"gene_symbol": "SLC24A4",
"hgvs_c": "c.1579A>T",
"hgvs_p": "p.Ser527Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534739.1",
"strand": true,
"transcript": "XM_011536437.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 372,
"aa_ref": "S",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9688,
"cdna_start": 1461,
"cds_end": null,
"cds_length": 1119,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011536440.2",
"gene_hgnc_id": 10978,
"gene_symbol": "SLC24A4",
"hgvs_c": "c.745A>T",
"hgvs_p": "p.Ser249Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534742.1",
"strand": true,
"transcript": "XM_011536440.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1616,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000554925.5",
"gene_hgnc_id": 10978,
"gene_symbol": "SLC24A4",
"hgvs_c": "n.948A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000554925.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs587777536",
"effect": "missense_variant",
"frequency_reference_population": 6.8405257e-7,
"gene_hgnc_id": 10978,
"gene_symbol": "SLC24A4",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84053e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic",
"phenotype_combined": "Amelogenesis imperfecta hypomaturation type 2A5",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 9.109,
"pos": 92486738,
"ref": "A",
"revel_prediction": "Pathogenic",
"revel_score": 0.855,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.14000000059604645,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.14,
"transcript": "NM_153646.4"
}
]
}