← 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: 4-140543479-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=140543479&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 140543479,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_153702.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.629A>G",
"hgvs_p": "p.Asn210Ser",
"transcript": "NM_153702.4",
"protein_id": "NP_714913.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 293,
"cds_start": 629,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000323570.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153702.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.629A>G",
"hgvs_p": "p.Asn210Ser",
"transcript": "ENST00000323570.8",
"protein_id": "ENSP00000326342.3",
"transcript_support_level": 1,
"aa_start": 210,
"aa_end": null,
"aa_length": 293,
"cds_start": 629,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_153702.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323570.8"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.674A>G",
"hgvs_p": "p.Asn225Ser",
"transcript": "ENST00000899909.1",
"protein_id": "ENSP00000569968.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 308,
"cds_start": 674,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899909.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.674A>G",
"hgvs_p": "p.Asn225Ser",
"transcript": "ENST00000954139.1",
"protein_id": "ENSP00000624198.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 308,
"cds_start": 674,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954139.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.629A>G",
"hgvs_p": "p.Asn210Ser",
"transcript": "ENST00000899906.1",
"protein_id": "ENSP00000569965.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 293,
"cds_start": 629,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899906.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.629A>G",
"hgvs_p": "p.Asn210Ser",
"transcript": "ENST00000899908.1",
"protein_id": "ENSP00000569967.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 293,
"cds_start": 629,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899908.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.629A>G",
"hgvs_p": "p.Asn210Ser",
"transcript": "ENST00000917822.1",
"protein_id": "ENSP00000587881.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 293,
"cds_start": 629,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917822.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.629A>G",
"hgvs_p": "p.Asn210Ser",
"transcript": "ENST00000917823.1",
"protein_id": "ENSP00000587882.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 293,
"cds_start": 629,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917823.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.629A>G",
"hgvs_p": "p.Asn210Ser",
"transcript": "ENST00000917824.1",
"protein_id": "ENSP00000587883.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 293,
"cds_start": 629,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917824.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.629A>G",
"hgvs_p": "p.Asn210Ser",
"transcript": "ENST00000954137.1",
"protein_id": "ENSP00000624196.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 293,
"cds_start": 629,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954137.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.401A>G",
"hgvs_p": "p.Asn134Ser",
"transcript": "ENST00000954138.1",
"protein_id": "ENSP00000624197.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 217,
"cds_start": 401,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954138.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.365A>G",
"hgvs_p": "p.Asn122Ser",
"transcript": "ENST00000899907.1",
"protein_id": "ENSP00000569966.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 205,
"cds_start": 365,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899907.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.665A>G",
"hgvs_p": "p.Asn222Ser",
"transcript": "XM_005262885.4",
"protein_id": "XP_005262942.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 305,
"cds_start": 665,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262885.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.665A>G",
"hgvs_p": "p.Asn222Ser",
"transcript": "XM_011531818.3",
"protein_id": "XP_011530120.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 294,
"cds_start": 665,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531818.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.629A>G",
"hgvs_p": "p.Asn210Ser",
"transcript": "XM_011531819.3",
"protein_id": "XP_011530121.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 293,
"cds_start": 629,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531819.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.629A>G",
"hgvs_p": "p.Asn210Ser",
"transcript": "XM_047449980.1",
"protein_id": "XP_047305936.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 282,
"cds_start": 629,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449980.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.648A>G",
"hgvs_p": "p.Gln216Gln",
"transcript": "XM_047449981.1",
"protein_id": "XP_047305937.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 222,
"cds_start": 648,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449981.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "n.245A>G",
"hgvs_p": null,
"transcript": "ENST00000502290.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000502290.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "n.1088A>G",
"hgvs_p": null,
"transcript": "XR_001741193.2",
"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": "pseudogene",
"feature": "XR_001741193.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "n.*7A>G",
"hgvs_p": null,
"transcript": "ENST00000512057.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000512057.1"
}
],
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"dbsnp": "rs1351747696",
"frequency_reference_population": 0.000006888599,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.0000068886,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9755538702011108,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.569,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5766,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.947,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_153702.4",
"gene_symbol": "ELMOD2",
"hgnc_id": 28111,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.629A>G",
"hgvs_p": "p.Asn210Ser"
}
],
"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
}