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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: 1-182473733-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=182473733&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 182473733,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001366934.1",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGSL1",
"gene_hgnc_id": 18636,
"hgvs_c": "c.622T>C",
"hgvs_p": "p.Cys208Arg",
"transcript": "NM_001137669.2",
"protein_id": "NP_001131141.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 1076,
"cds_start": 622,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 3735,
"mane_select": "ENST00000294854.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001137669.2"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGSL1",
"gene_hgnc_id": 18636,
"hgvs_c": "c.622T>C",
"hgvs_p": "p.Cys208Arg",
"transcript": "ENST00000294854.13",
"protein_id": "ENSP00000457748.1",
"transcript_support_level": 1,
"aa_start": 208,
"aa_end": null,
"aa_length": 1076,
"cds_start": 622,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 3735,
"mane_select": "NM_001137669.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000294854.13"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGSL1",
"gene_hgnc_id": 18636,
"hgvs_c": "c.727T>C",
"hgvs_p": "p.Cys243Arg",
"transcript": "NM_001366934.1",
"protein_id": "NP_001353863.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 1111,
"cds_start": 727,
"cds_end": null,
"cds_length": 3336,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 3840,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366934.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGSL1",
"gene_hgnc_id": 18636,
"hgvs_c": "c.265T>C",
"hgvs_p": "p.Cys89Arg",
"transcript": "ENST00000634679.1",
"protein_id": "ENSP00000489502.1",
"transcript_support_level": 5,
"aa_start": 89,
"aa_end": null,
"aa_length": 165,
"cds_start": 265,
"cds_end": null,
"cds_length": 500,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 723,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634679.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGSL1",
"gene_hgnc_id": 18636,
"hgvs_c": "c.91T>C",
"hgvs_p": "p.Cys31Arg",
"transcript": "ENST00000634758.1",
"protein_id": "ENSP00000488942.1",
"transcript_support_level": 5,
"aa_start": 31,
"aa_end": null,
"aa_length": 80,
"cds_start": 91,
"cds_end": null,
"cds_length": 244,
"cdna_start": 328,
"cdna_end": null,
"cdna_length": 481,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634758.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGSL1",
"gene_hgnc_id": 18636,
"hgvs_c": "c.727T>C",
"hgvs_p": "p.Cys243Arg",
"transcript": "XM_017001188.2",
"protein_id": "XP_016856677.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 1108,
"cds_start": 727,
"cds_end": null,
"cds_length": 3327,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 3984,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001188.2"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGSL1",
"gene_hgnc_id": 18636,
"hgvs_c": "c.688T>C",
"hgvs_p": "p.Cys230Arg",
"transcript": "XM_017001189.2",
"protein_id": "XP_016856678.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 1098,
"cds_start": 688,
"cds_end": null,
"cds_length": 3297,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 3853,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001189.2"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGSL1",
"gene_hgnc_id": 18636,
"hgvs_c": "c.688T>C",
"hgvs_p": "p.Cys230Arg",
"transcript": "XM_017001190.2",
"protein_id": "XP_016856679.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 1098,
"cds_start": 688,
"cds_end": null,
"cds_length": 3297,
"cdna_start": 1564,
"cdna_end": null,
"cdna_length": 4657,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001190.2"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGSL1",
"gene_hgnc_id": 18636,
"hgvs_c": "c.688T>C",
"hgvs_p": "p.Cys230Arg",
"transcript": "XM_017001191.1",
"protein_id": "XP_016856680.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 1098,
"cds_start": 688,
"cds_end": null,
"cds_length": 3297,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 3862,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001191.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGSL1",
"gene_hgnc_id": 18636,
"hgvs_c": "c.688T>C",
"hgvs_p": "p.Cys230Arg",
"transcript": "XM_017001192.3",
"protein_id": "XP_016856681.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 1098,
"cds_start": 688,
"cds_end": null,
"cds_length": 3297,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 3922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001192.3"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGSL1",
"gene_hgnc_id": 18636,
"hgvs_c": "c.688T>C",
"hgvs_p": "p.Cys230Arg",
"transcript": "XM_017001193.3",
"protein_id": "XP_016856682.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 1098,
"cds_start": 688,
"cds_end": null,
"cds_length": 3297,
"cdna_start": 885,
"cdna_end": null,
"cdna_length": 3978,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001193.3"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGSL1",
"gene_hgnc_id": 18636,
"hgvs_c": "c.727T>C",
"hgvs_p": "p.Cys243Arg",
"transcript": "XM_011509494.3",
"protein_id": "XP_011507796.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 1013,
"cds_start": 727,
"cds_end": null,
"cds_length": 3042,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 3151,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509494.3"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGSL1",
"gene_hgnc_id": 18636,
"hgvs_c": "c.421T>C",
"hgvs_p": "p.Cys141Arg",
"transcript": "XM_047419632.1",
"protein_id": "XP_047275588.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 1009,
"cds_start": 421,
"cds_end": null,
"cds_length": 3030,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 3742,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419632.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGSL1",
"gene_hgnc_id": 18636,
"hgvs_c": "c.727T>C",
"hgvs_p": "p.Cys243Arg",
"transcript": "XM_047419638.1",
"protein_id": "XP_047275594.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 984,
"cds_start": 727,
"cds_end": null,
"cds_length": 2955,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 3130,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419638.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGSL1",
"gene_hgnc_id": 18636,
"hgvs_c": "c.727T>C",
"hgvs_p": "p.Cys243Arg",
"transcript": "XM_011509500.2",
"protein_id": "XP_011507802.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 782,
"cds_start": 727,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 2454,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509500.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RGSL1",
"gene_hgnc_id": 18636,
"hgvs_c": "c.-1+13600T>C",
"hgvs_p": null,
"transcript": "XM_017001196.1",
"protein_id": "XP_016856685.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 599,
"cds_start": null,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2356,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001196.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RGSL1",
"gene_hgnc_id": 18636,
"hgvs_c": "c.-1+1176T>C",
"hgvs_p": null,
"transcript": "XM_047419640.1",
"protein_id": "XP_047275596.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 599,
"cds_start": null,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2374,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419640.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGSL1",
"gene_hgnc_id": 18636,
"hgvs_c": "n.771T>C",
"hgvs_p": null,
"transcript": "ENST00000367561.9",
"protein_id": null,
"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": 2044,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000367561.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGSL1",
"gene_hgnc_id": 18636,
"hgvs_c": "n.727T>C",
"hgvs_p": null,
"transcript": "ENST00000443996.6",
"protein_id": "ENSP00000457491.1",
"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": 3676,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000443996.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RGSL1",
"gene_hgnc_id": 18636,
"hgvs_c": "n.463+1176T>C",
"hgvs_p": null,
"transcript": "ENST00000416676.5",
"protein_id": "ENSP00000458086.1",
"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": 708,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000416676.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RGSL1",
"gene_hgnc_id": 18636,
"hgvs_c": "n.434+12977T>C",
"hgvs_p": null,
"transcript": "ENST00000422241.2",
"protein_id": "ENSP00000456332.1",
"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": 731,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000422241.2"
}
],
"gene_symbol": "RGSL1",
"gene_hgnc_id": 18636,
"dbsnp": null,
"frequency_reference_population": 0.000018578461,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000185785,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 26,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5796212553977966,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.892,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.668,
"phylop100way_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001366934.1",
"gene_symbol": "RGSL1",
"hgnc_id": 18636,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.727T>C",
"hgvs_p": "p.Cys243Arg"
}
],
"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
}