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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: 10-19491622-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=19491622&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 19491622,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001142308.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALRD1",
"gene_hgnc_id": 24331,
"hgvs_c": "c.5135A>G",
"hgvs_p": "p.Asp1712Gly",
"transcript": "NM_001142308.3",
"protein_id": "NP_001135780.2",
"transcript_support_level": null,
"aa_start": 1712,
"aa_end": null,
"aa_length": 2156,
"cds_start": 5135,
"cds_end": null,
"cds_length": 6471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000454679.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142308.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALRD1",
"gene_hgnc_id": 24331,
"hgvs_c": "c.5135A>G",
"hgvs_p": "p.Asp1712Gly",
"transcript": "ENST00000454679.7",
"protein_id": "ENSP00000412763.3",
"transcript_support_level": 1,
"aa_start": 1712,
"aa_end": null,
"aa_length": 2156,
"cds_start": 5135,
"cds_end": null,
"cds_length": 6471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001142308.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454679.7"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALRD1",
"gene_hgnc_id": 24331,
"hgvs_c": "c.3272A>G",
"hgvs_p": "p.Asp1091Gly",
"transcript": "ENST00000377266.7",
"protein_id": "ENSP00000366477.3",
"transcript_support_level": 5,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1486,
"cds_start": 3272,
"cds_end": null,
"cds_length": 4461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377266.7"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALRD1",
"gene_hgnc_id": 24331,
"hgvs_c": "c.185A>G",
"hgvs_p": "p.Asp62Gly",
"transcript": "ENST00000377265.3",
"protein_id": "ENSP00000366476.3",
"transcript_support_level": 2,
"aa_start": 62,
"aa_end": null,
"aa_length": 506,
"cds_start": 185,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377265.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALRD1",
"gene_hgnc_id": 24331,
"hgvs_c": "c.5195A>G",
"hgvs_p": "p.Asp1732Gly",
"transcript": "XM_011519453.3",
"protein_id": "XP_011517755.1",
"transcript_support_level": null,
"aa_start": 1732,
"aa_end": null,
"aa_length": 2176,
"cds_start": 5195,
"cds_end": null,
"cds_length": 6531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519453.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALRD1",
"gene_hgnc_id": 24331,
"hgvs_c": "c.5114A>G",
"hgvs_p": "p.Asp1705Gly",
"transcript": "XM_011519454.2",
"protein_id": "XP_011517756.1",
"transcript_support_level": null,
"aa_start": 1705,
"aa_end": null,
"aa_length": 2149,
"cds_start": 5114,
"cds_end": null,
"cds_length": 6450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519454.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALRD1",
"gene_hgnc_id": 24331,
"hgvs_c": "c.5021A>G",
"hgvs_p": "p.Asp1674Gly",
"transcript": "XM_011519455.3",
"protein_id": "XP_011517757.1",
"transcript_support_level": null,
"aa_start": 1674,
"aa_end": null,
"aa_length": 2118,
"cds_start": 5021,
"cds_end": null,
"cds_length": 6357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519455.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALRD1",
"gene_hgnc_id": 24331,
"hgvs_c": "c.4922A>G",
"hgvs_p": "p.Asp1641Gly",
"transcript": "XM_017016182.1",
"protein_id": "XP_016871671.1",
"transcript_support_level": null,
"aa_start": 1641,
"aa_end": null,
"aa_length": 2085,
"cds_start": 4922,
"cds_end": null,
"cds_length": 6258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016182.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALRD1",
"gene_hgnc_id": 24331,
"hgvs_c": "c.5195A>G",
"hgvs_p": "p.Asp1732Gly",
"transcript": "XM_017016183.2",
"protein_id": "XP_016871672.1",
"transcript_support_level": null,
"aa_start": 1732,
"aa_end": null,
"aa_length": 2080,
"cds_start": 5195,
"cds_end": null,
"cds_length": 6243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016183.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALRD1",
"gene_hgnc_id": 24331,
"hgvs_c": "c.5195A>G",
"hgvs_p": "p.Asp1732Gly",
"transcript": "XM_047425167.1",
"protein_id": "XP_047281123.1",
"transcript_support_level": null,
"aa_start": 1732,
"aa_end": null,
"aa_length": 1834,
"cds_start": 5195,
"cds_end": null,
"cds_length": 5505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425167.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALRD1",
"gene_hgnc_id": 24331,
"hgvs_c": "c.3395A>G",
"hgvs_p": "p.Asp1132Gly",
"transcript": "XM_017016184.1",
"protein_id": "XP_016871673.1",
"transcript_support_level": null,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1576,
"cds_start": 3395,
"cds_end": null,
"cds_length": 4731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016184.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALRD1",
"gene_hgnc_id": 24331,
"hgvs_c": "c.3395A>G",
"hgvs_p": "p.Asp1132Gly",
"transcript": "XM_017016185.1",
"protein_id": "XP_016871674.1",
"transcript_support_level": null,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1576,
"cds_start": 3395,
"cds_end": null,
"cds_length": 4731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016185.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALRD1",
"gene_hgnc_id": 24331,
"hgvs_c": "c.1937A>G",
"hgvs_p": "p.Asp646Gly",
"transcript": "XM_017016186.1",
"protein_id": "XP_016871675.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 1090,
"cds_start": 1937,
"cds_end": null,
"cds_length": 3273,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016186.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALRD1",
"gene_hgnc_id": 24331,
"hgvs_c": "n.185A>G",
"hgvs_p": null,
"transcript": "ENST00000492202.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "pseudogene",
"feature": "ENST00000492202.1"
}
],
"gene_symbol": "MALRD1",
"gene_hgnc_id": 24331,
"dbsnp": "rs35934077",
"frequency_reference_population": 0.012515149,
"hom_count_reference_population": 178,
"allele_count_reference_population": 19394,
"gnomad_exomes_af": 0.0126278,
"gnomad_genomes_af": 0.011481,
"gnomad_exomes_ac": 17646,
"gnomad_genomes_ac": 1748,
"gnomad_exomes_homalt": 152,
"gnomad_genomes_homalt": 26,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0047171711921691895,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.6899999976158142,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": 0.582,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4666,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.894,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.69,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 6,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP6_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001142308.3",
"gene_symbol": "MALRD1",
"hgnc_id": 24331,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5135A>G",
"hgvs_p": "p.Asp1712Gly"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}