← 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: 19-48714376-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48714376&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 48714376,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001130915.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "c.713G>T",
"hgvs_p": "p.Arg238Leu",
"transcript": "NM_001130915.2",
"protein_id": "NP_001124387.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 415,
"cds_start": 713,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000318083.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130915.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "c.713G>T",
"hgvs_p": "p.Arg238Leu",
"transcript": "ENST00000318083.11",
"protein_id": "ENSP00000324175.5",
"transcript_support_level": 2,
"aa_start": 238,
"aa_end": null,
"aa_length": 415,
"cds_start": 713,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001130915.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318083.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "c.220-331G>T",
"hgvs_p": null,
"transcript": "ENST00000594582.1",
"protein_id": "ENSP00000471590.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": null,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594582.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "c.863G>T",
"hgvs_p": "p.Arg288Leu",
"transcript": "ENST00000599703.2",
"protein_id": "ENSP00000469544.2",
"transcript_support_level": 5,
"aa_start": 288,
"aa_end": null,
"aa_length": 465,
"cds_start": 863,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599703.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "c.404G>T",
"hgvs_p": "p.Arg135Leu",
"transcript": "NM_182574.3",
"protein_id": "NP_872380.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 312,
"cds_start": 404,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182574.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "c.404G>T",
"hgvs_p": "p.Arg135Leu",
"transcript": "ENST00000356751.8",
"protein_id": "ENSP00000349192.3",
"transcript_support_level": 2,
"aa_start": 135,
"aa_end": null,
"aa_length": 312,
"cds_start": 404,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356751.8"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "c.956G>T",
"hgvs_p": "p.Arg319Leu",
"transcript": "XM_017026640.2",
"protein_id": "XP_016882129.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 496,
"cds_start": 956,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026640.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "c.917G>T",
"hgvs_p": "p.Arg306Leu",
"transcript": "XM_017026641.2",
"protein_id": "XP_016882130.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 483,
"cds_start": 917,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026641.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "c.902G>T",
"hgvs_p": "p.Arg301Leu",
"transcript": "XM_011526808.3",
"protein_id": "XP_011525110.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 478,
"cds_start": 902,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526808.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "c.797G>T",
"hgvs_p": "p.Arg266Leu",
"transcript": "XM_017026643.2",
"protein_id": "XP_016882132.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 443,
"cds_start": 797,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026643.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "c.767G>T",
"hgvs_p": "p.Arg256Leu",
"transcript": "XM_017026644.2",
"protein_id": "XP_016882133.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 433,
"cds_start": 767,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026644.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "c.743G>T",
"hgvs_p": "p.Arg248Leu",
"transcript": "XM_047438641.1",
"protein_id": "XP_047294597.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 425,
"cds_start": 743,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438641.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "c.404G>T",
"hgvs_p": "p.Arg135Leu",
"transcript": "XM_011526807.3",
"protein_id": "XP_011525109.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 312,
"cds_start": 404,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526807.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "c.404G>T",
"hgvs_p": "p.Arg135Leu",
"transcript": "XM_047438640.1",
"protein_id": "XP_047294596.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 247,
"cds_start": 404,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438640.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "c.220-331G>T",
"hgvs_p": null,
"transcript": "NM_001297753.2",
"protein_id": "NP_001284682.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": null,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297753.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "c.733-331G>T",
"hgvs_p": null,
"transcript": "XM_024451461.2",
"protein_id": "XP_024307229.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": null,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451461.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "c.583-331G>T",
"hgvs_p": null,
"transcript": "XM_047438642.1",
"protein_id": "XP_047294598.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 368,
"cds_start": null,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438642.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "c.529-331G>T",
"hgvs_p": null,
"transcript": "XM_047438643.1",
"protein_id": "XP_047294599.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 350,
"cds_start": null,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438643.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "c.220-331G>T",
"hgvs_p": null,
"transcript": "XM_011526809.3",
"protein_id": "XP_011525111.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": null,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526809.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "n.-246G>T",
"hgvs_p": null,
"transcript": "ENST00000850646.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000850646.1"
}
],
"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"dbsnp": "rs2032889995",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06595882773399353,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.024,
"revel_prediction": "Benign",
"alphamissense_score": 0.1579,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.406,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001130915.2",
"gene_symbol": "MAMSTR",
"hgnc_id": 26689,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.713G>T",
"hgvs_p": "p.Arg238Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}