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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: 10-19595335-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=19595335&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MALRD1",
"hgnc_id": 24331,
"hgvs_c": "c.5822G>A",
"hgvs_p": "p.Ser1941Asn",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001142308.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 797917,
"alphamissense_prediction": null,
"alphamissense_score": 0.0744,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.00009011047950480133,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2156,
"aa_ref": "S",
"aa_start": 1941,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6850,
"cdna_start": 5960,
"cds_end": null,
"cds_length": 6471,
"cds_start": 5822,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "NM_001142308.3",
"gene_hgnc_id": 24331,
"gene_symbol": "MALRD1",
"hgvs_c": "c.5822G>A",
"hgvs_p": "p.Ser1941Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000454679.7",
"protein_coding": true,
"protein_id": "NP_001135780.2",
"strand": true,
"transcript": "NM_001142308.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2156,
"aa_ref": "S",
"aa_start": 1941,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6850,
"cdna_start": 5960,
"cds_end": null,
"cds_length": 6471,
"cds_start": 5822,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000454679.7",
"gene_hgnc_id": 24331,
"gene_symbol": "MALRD1",
"hgvs_c": "c.5822G>A",
"hgvs_p": "p.Ser1941Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001142308.3",
"protein_coding": true,
"protein_id": "ENSP00000412763.3",
"strand": true,
"transcript": "ENST00000454679.7",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1486,
"aa_ref": "S",
"aa_start": 1320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4461,
"cdna_start": 3959,
"cds_end": null,
"cds_length": 4461,
"cds_start": 3959,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000377266.7",
"gene_hgnc_id": 24331,
"gene_symbol": "MALRD1",
"hgvs_c": "c.3959G>A",
"hgvs_p": "p.Ser1320Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366477.3",
"strand": true,
"transcript": "ENST00000377266.7",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 506,
"aa_ref": "S",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1761,
"cdna_start": 873,
"cds_end": null,
"cds_length": 1521,
"cds_start": 872,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000377265.3",
"gene_hgnc_id": 24331,
"gene_symbol": "MALRD1",
"hgvs_c": "c.872G>A",
"hgvs_p": "p.Ser291Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366476.3",
"strand": true,
"transcript": "ENST00000377265.3",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2176,
"aa_ref": "S",
"aa_start": 1961,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7529,
"cdna_start": 6639,
"cds_end": null,
"cds_length": 6531,
"cds_start": 5882,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "XM_011519453.3",
"gene_hgnc_id": 24331,
"gene_symbol": "MALRD1",
"hgvs_c": "c.5882G>A",
"hgvs_p": "p.Ser1961Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517755.1",
"strand": true,
"transcript": "XM_011519453.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2149,
"aa_ref": "S",
"aa_start": 1934,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6748,
"cdna_start": 5858,
"cds_end": null,
"cds_length": 6450,
"cds_start": 5801,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "XM_011519454.2",
"gene_hgnc_id": 24331,
"gene_symbol": "MALRD1",
"hgvs_c": "c.5801G>A",
"hgvs_p": "p.Ser1934Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517756.1",
"strand": true,
"transcript": "XM_011519454.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2118,
"aa_ref": "S",
"aa_start": 1903,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7355,
"cdna_start": 6465,
"cds_end": null,
"cds_length": 6357,
"cds_start": 5708,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "XM_011519455.3",
"gene_hgnc_id": 24331,
"gene_symbol": "MALRD1",
"hgvs_c": "c.5708G>A",
"hgvs_p": "p.Ser1903Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517757.1",
"strand": true,
"transcript": "XM_011519455.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2085,
"aa_ref": "S",
"aa_start": 1870,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6690,
"cdna_start": 5800,
"cds_end": null,
"cds_length": 6258,
"cds_start": 5609,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "XM_017016182.1",
"gene_hgnc_id": 24331,
"gene_symbol": "MALRD1",
"hgvs_c": "c.5609G>A",
"hgvs_p": "p.Ser1870Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016871671.1",
"strand": true,
"transcript": "XM_017016182.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2080,
"aa_ref": "S",
"aa_start": 1961,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8419,
"cdna_start": 6639,
"cds_end": null,
"cds_length": 6243,
"cds_start": 5882,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "XM_017016183.2",
"gene_hgnc_id": 24331,
"gene_symbol": "MALRD1",
"hgvs_c": "c.5882G>A",
"hgvs_p": "p.Ser1961Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016871672.1",
"strand": true,
"transcript": "XM_017016183.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1576,
"aa_ref": "S",
"aa_start": 1361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5107,
"cdna_start": 4217,
"cds_end": null,
"cds_length": 4731,
"cds_start": 4082,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_017016184.1",
"gene_hgnc_id": 24331,
"gene_symbol": "MALRD1",
"hgvs_c": "c.4082G>A",
"hgvs_p": "p.Ser1361Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016871673.1",
"strand": true,
"transcript": "XM_017016184.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1576,
"aa_ref": "S",
"aa_start": 1361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5104,
"cdna_start": 4214,
"cds_end": null,
"cds_length": 4731,
"cds_start": 4082,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_017016185.1",
"gene_hgnc_id": 24331,
"gene_symbol": "MALRD1",
"hgvs_c": "c.4082G>A",
"hgvs_p": "p.Ser1361Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016871674.1",
"strand": true,
"transcript": "XM_017016185.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1090,
"aa_ref": "S",
"aa_start": 875,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3661,
"cdna_start": 2771,
"cds_end": null,
"cds_length": 3273,
"cds_start": 2624,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_017016186.1",
"gene_hgnc_id": 24331,
"gene_symbol": "MALRD1",
"hgvs_c": "c.2624G>A",
"hgvs_p": "p.Ser875Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016871675.1",
"strand": true,
"transcript": "XM_017016186.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs10827628",
"effect": "missense_variant",
"frequency_reference_population": 0.5147845,
"gene_hgnc_id": 24331,
"gene_symbol": "MALRD1",
"gnomad_exomes_ac": 720707,
"gnomad_exomes_af": 0.515439,
"gnomad_exomes_homalt": 187382,
"gnomad_genomes_ac": 77210,
"gnomad_genomes_af": 0.50875,
"gnomad_genomes_homalt": 19744,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 207126,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.642,
"pos": 19595335,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.043,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_001142308.3"
}
]
}