← 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: 7-48009041-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=48009041&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 48009041,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_152782.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN3",
"gene_hgnc_id": 22429,
"hgvs_c": "c.323T>G",
"hgvs_p": "p.Leu108Arg",
"transcript": "NM_001030019.2",
"protein_id": "NP_001025190.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 357,
"cds_start": 323,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 1425,
"mane_select": "ENST00000297325.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001030019.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN3",
"gene_hgnc_id": 22429,
"hgvs_c": "c.323T>G",
"hgvs_p": "p.Leu108Arg",
"transcript": "ENST00000297325.9",
"protein_id": "ENSP00000297325.4",
"transcript_support_level": 5,
"aa_start": 108,
"aa_end": null,
"aa_length": 357,
"cds_start": 323,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 1425,
"mane_select": "NM_001030019.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297325.9"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN3",
"gene_hgnc_id": 22429,
"hgvs_c": "c.323T>G",
"hgvs_p": "p.Leu108Arg",
"transcript": "ENST00000395572.6",
"protein_id": "ENSP00000378939.2",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 357,
"cds_start": 323,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 1348,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395572.6"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN3",
"gene_hgnc_id": 22429,
"hgvs_c": "c.23T>G",
"hgvs_p": "p.Leu8Arg",
"transcript": "ENST00000438771.5",
"protein_id": "ENSP00000409077.1",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 269,
"cds_start": 23,
"cds_end": null,
"cds_length": 810,
"cdna_start": 23,
"cdna_end": null,
"cdna_length": 810,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438771.5"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN3",
"gene_hgnc_id": 22429,
"hgvs_c": "c.323T>G",
"hgvs_p": "p.Leu108Arg",
"transcript": "NM_152782.4",
"protein_id": "NP_689995.3",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 357,
"cds_start": 323,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 1341,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152782.4"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN3",
"gene_hgnc_id": 22429,
"hgvs_c": "c.287T>G",
"hgvs_p": "p.Leu96Arg",
"transcript": "NM_001284350.2",
"protein_id": "NP_001271279.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 345,
"cds_start": 287,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 590,
"cdna_end": null,
"cdna_length": 1523,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284350.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN3",
"gene_hgnc_id": 22429,
"hgvs_c": "c.287T>G",
"hgvs_p": "p.Leu96Arg",
"transcript": "ENST00000412142.5",
"protein_id": "ENSP00000410204.2",
"transcript_support_level": 5,
"aa_start": 96,
"aa_end": null,
"aa_length": 345,
"cds_start": 287,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 518,
"cdna_end": null,
"cdna_length": 1448,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412142.5"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN3",
"gene_hgnc_id": 22429,
"hgvs_c": "c.80T>G",
"hgvs_p": "p.Leu27Arg",
"transcript": "ENST00000453071.5",
"protein_id": "ENSP00000388627.1",
"transcript_support_level": 5,
"aa_start": 27,
"aa_end": null,
"aa_length": 280,
"cds_start": 80,
"cds_end": null,
"cds_length": 843,
"cdna_start": 82,
"cdna_end": null,
"cdna_length": 1027,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453071.5"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN3",
"gene_hgnc_id": 22429,
"hgvs_c": "c.323T>G",
"hgvs_p": "p.Leu108Arg",
"transcript": "XM_047420113.1",
"protein_id": "XP_047276069.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 360,
"cds_start": 323,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 1189,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420113.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN3",
"gene_hgnc_id": 22429,
"hgvs_c": "c.323T>G",
"hgvs_p": "p.Leu108Arg",
"transcript": "XM_047420114.1",
"protein_id": "XP_047276070.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 360,
"cds_start": 323,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 413,
"cdna_end": null,
"cdna_length": 1194,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420114.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN3",
"gene_hgnc_id": 22429,
"hgvs_c": "c.323T>G",
"hgvs_p": "p.Leu108Arg",
"transcript": "XM_017011930.2",
"protein_id": "XP_016867419.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 357,
"cds_start": 323,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 405,
"cdna_end": null,
"cdna_length": 1338,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011930.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN3",
"gene_hgnc_id": 22429,
"hgvs_c": "n.*151T>G",
"hgvs_p": null,
"transcript": "ENST00000449896.2",
"protein_id": "ENSP00000395392.2",
"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": 1456,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000449896.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN3",
"gene_hgnc_id": 22429,
"hgvs_c": "n.*151T>G",
"hgvs_p": null,
"transcript": "ENST00000449896.2",
"protein_id": "ENSP00000395392.2",
"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": 1456,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000449896.2"
}
],
"gene_symbol": "SUN3",
"gene_hgnc_id": 22429,
"dbsnp": "rs751489202",
"frequency_reference_population": 0.0000041091275,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410913,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1667078137397766,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.116,
"revel_prediction": "Benign",
"alphamissense_score": 0.0906,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.892,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152782.4",
"gene_symbol": "SUN3",
"hgnc_id": 22429,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.323T>G",
"hgvs_p": "p.Leu108Arg"
}
],
"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
}