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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: 2-17774401-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=17774401&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 17774401,
"ref": "G",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001130009.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.1202G>T",
"hgvs_p": "p.Arg401Leu",
"transcript": "NM_001130009.3",
"protein_id": "NP_001123481.3",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 908,
"cds_start": 1202,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 1425,
"cdna_end": null,
"cdna_length": 9957,
"mane_select": "ENST00000381254.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.1202G>T",
"hgvs_p": "p.Arg401Leu",
"transcript": "ENST00000381254.7",
"protein_id": "ENSP00000370653.2",
"transcript_support_level": 5,
"aa_start": 401,
"aa_end": null,
"aa_length": 908,
"cds_start": 1202,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 1425,
"cdna_end": null,
"cdna_length": 9957,
"mane_select": "NM_001130009.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.386G>T",
"hgvs_p": "p.Arg129Leu",
"transcript": "ENST00000534451.2",
"protein_id": "ENSP00000481385.1",
"transcript_support_level": 5,
"aa_start": 129,
"aa_end": null,
"aa_length": 129,
"cds_start": 386,
"cds_end": null,
"cds_length": 390,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.1202G>T",
"hgvs_p": "p.Arg401Leu",
"transcript": "NM_182625.5",
"protein_id": "NP_872431.5",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 908,
"cds_start": 1202,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 1316,
"cdna_end": null,
"cdna_length": 9848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.1202G>T",
"hgvs_p": "p.Arg401Leu",
"transcript": "ENST00000317402.11",
"protein_id": "ENSP00000318977.7",
"transcript_support_level": 2,
"aa_start": 401,
"aa_end": null,
"aa_length": 908,
"cds_start": 1202,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 1327,
"cdna_end": null,
"cdna_length": 9854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.1202G>T",
"hgvs_p": "p.Arg401Leu",
"transcript": "XM_005262613.5",
"protein_id": "XP_005262670.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 908,
"cds_start": 1202,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 1422,
"cdna_end": null,
"cdna_length": 9954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.1202G>T",
"hgvs_p": "p.Arg401Leu",
"transcript": "XM_006712005.4",
"protein_id": "XP_006712068.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 908,
"cds_start": 1202,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 1313,
"cdna_end": null,
"cdna_length": 9845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.1202G>T",
"hgvs_p": "p.Arg401Leu",
"transcript": "XM_011532820.3",
"protein_id": "XP_011531122.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 908,
"cds_start": 1202,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 1333,
"cdna_end": null,
"cdna_length": 9865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.1202G>T",
"hgvs_p": "p.Arg401Leu",
"transcript": "XM_011532821.3",
"protein_id": "XP_011531123.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 908,
"cds_start": 1202,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 1442,
"cdna_end": null,
"cdna_length": 9974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.1202G>T",
"hgvs_p": "p.Arg401Leu",
"transcript": "XM_011532822.3",
"protein_id": "XP_011531124.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 908,
"cds_start": 1202,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 1709,
"cdna_end": null,
"cdna_length": 10241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.1202G>T",
"hgvs_p": "p.Arg401Leu",
"transcript": "XM_047444147.1",
"protein_id": "XP_047300103.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 908,
"cds_start": 1202,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 7008,
"cdna_end": null,
"cdna_length": 15540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.113G>T",
"hgvs_p": "p.Arg38Leu",
"transcript": "XM_047444155.1",
"protein_id": "XP_047300111.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 545,
"cds_start": 113,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 9362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.113G>T",
"hgvs_p": "p.Arg38Leu",
"transcript": "XM_047444156.1",
"protein_id": "XP_047300112.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 545,
"cds_start": 113,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 9465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.113G>T",
"hgvs_p": "p.Arg38Leu",
"transcript": "XM_047444157.1",
"protein_id": "XP_047300113.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 545,
"cds_start": 113,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 9373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.113G>T",
"hgvs_p": "p.Arg38Leu",
"transcript": "XM_047444158.1",
"protein_id": "XP_047300114.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 545,
"cds_start": 113,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 9270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.113G>T",
"hgvs_p": "p.Arg38Leu",
"transcript": "XM_047444159.1",
"protein_id": "XP_047300115.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 545,
"cds_start": 113,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1300,
"cdna_end": null,
"cdna_length": 9832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "n.515G>T",
"hgvs_p": null,
"transcript": "ENST00000528873.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.-6+13414C>A",
"hgvs_p": null,
"transcript": "ENST00000402989.5",
"protein_id": "ENSP00000384539.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1091,
"cds_start": -4,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.-6+13414C>A",
"hgvs_p": null,
"transcript": "ENST00000428868.1",
"protein_id": "ENSP00000415352.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 56,
"cds_start": -4,
"cds_end": null,
"cds_length": 171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LOC105373449",
"gene_hgnc_id": null,
"hgvs_c": "n.409-9754C>A",
"hgvs_p": null,
"transcript": "XR_939762.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"dbsnp": "rs755927285",
"frequency_reference_population": 0.0000013838321,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000138383,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4771399199962616,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 1,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.364,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4737,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.38,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.72,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.999970708022261,
"dbscsnv_ada_prediction": "Pathogenic",
"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_001130009.3",
"gene_symbol": "GEN1",
"hgnc_id": 26881,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1202G>T",
"hgvs_p": "p.Arg401Leu"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000402989.5",
"gene_symbol": "SMC6",
"hgnc_id": 20466,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-6+13414C>A",
"hgvs_p": null
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "XR_939762.3",
"gene_symbol": "LOC105373449",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.409-9754C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}