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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: 9-133579232-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=133579232&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 133579232,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001080515.3",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM163B",
"gene_hgnc_id": 33277,
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Cys97Trp",
"transcript": "NM_001080515.3",
"protein_id": "NP_001073984.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 166,
"cds_start": 291,
"cds_end": null,
"cds_length": 501,
"cdna_start": 627,
"cdna_end": null,
"cdna_length": 2778,
"mane_select": "ENST00000673969.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080515.3"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM163B",
"gene_hgnc_id": 33277,
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Cys97Trp",
"transcript": "ENST00000673969.1",
"protein_id": "ENSP00000501259.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 166,
"cds_start": 291,
"cds_end": null,
"cds_length": 501,
"cdna_start": 627,
"cdna_end": null,
"cdna_length": 2778,
"mane_select": "NM_001080515.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673969.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM163B",
"gene_hgnc_id": 33277,
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Cys97Trp",
"transcript": "NM_001371529.1",
"protein_id": "NP_001358458.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 166,
"cds_start": 291,
"cds_end": null,
"cds_length": 501,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 2609,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371529.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM163B",
"gene_hgnc_id": 33277,
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Cys97Trp",
"transcript": "ENST00000496132.2",
"protein_id": "ENSP00000419867.1",
"transcript_support_level": 3,
"aa_start": 97,
"aa_end": null,
"aa_length": 166,
"cds_start": 291,
"cds_end": null,
"cds_length": 501,
"cdna_start": 536,
"cdna_end": null,
"cdna_length": 2687,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000496132.2"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM163B",
"gene_hgnc_id": 33277,
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Cys97Trp",
"transcript": "ENST00000886828.1",
"protein_id": "ENSP00000556887.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 166,
"cds_start": 291,
"cds_end": null,
"cds_length": 501,
"cdna_start": 811,
"cdna_end": null,
"cdna_length": 2962,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886828.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM163B",
"gene_hgnc_id": 33277,
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Cys97Trp",
"transcript": "ENST00000886829.1",
"protein_id": "ENSP00000556888.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 166,
"cds_start": 291,
"cds_end": null,
"cds_length": 501,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 2889,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886829.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM163B",
"gene_hgnc_id": 33277,
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Cys97Trp",
"transcript": "ENST00000886832.1",
"protein_id": "ENSP00000556891.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 166,
"cds_start": 291,
"cds_end": null,
"cds_length": 501,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 2683,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886832.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM163B",
"gene_hgnc_id": 33277,
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Cys97Trp",
"transcript": "ENST00000886833.1",
"protein_id": "ENSP00000556892.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 166,
"cds_start": 291,
"cds_end": null,
"cds_length": 501,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 2584,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886833.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM163B",
"gene_hgnc_id": 33277,
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Cys97Trp",
"transcript": "ENST00000915584.1",
"protein_id": "ENSP00000585643.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 166,
"cds_start": 291,
"cds_end": null,
"cds_length": 501,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 3161,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915584.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM163B",
"gene_hgnc_id": 33277,
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Cys97Trp",
"transcript": "XM_005272204.5",
"protein_id": "XP_005272261.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 166,
"cds_start": 291,
"cds_end": null,
"cds_length": 501,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 2776,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005272204.5"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM163B",
"gene_hgnc_id": 33277,
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Cys97Trp",
"transcript": "XM_006717233.4",
"protein_id": "XP_006717296.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 166,
"cds_start": 291,
"cds_end": null,
"cds_length": 501,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 3068,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717233.4"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM163B",
"gene_hgnc_id": 33277,
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Cys97Trp",
"transcript": "XM_011518912.3",
"protein_id": "XP_011517214.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 166,
"cds_start": 291,
"cds_end": null,
"cds_length": 501,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 3102,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518912.3"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM163B",
"gene_hgnc_id": 33277,
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Cys97Trp",
"transcript": "XM_017015017.2",
"protein_id": "XP_016870506.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 166,
"cds_start": 291,
"cds_end": null,
"cds_length": 501,
"cdna_start": 1243,
"cdna_end": null,
"cdna_length": 3394,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015017.2"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
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"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM163B",
"gene_hgnc_id": 33277,
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Cys97Trp",
"transcript": "XM_047423714.1",
"protein_id": "XP_047279670.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 166,
"cds_start": 291,
"cds_end": null,
"cds_length": 501,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 2933,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423714.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM163B",
"gene_hgnc_id": 33277,
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Cys97Trp",
"transcript": "XM_047423715.1",
"protein_id": "XP_047279671.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 166,
"cds_start": 291,
"cds_end": null,
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"cdna_start": 735,
"cdna_end": null,
"cdna_length": 2886,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423715.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM163B",
"gene_hgnc_id": 33277,
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Cys97Trp",
"transcript": "XM_047423716.1",
"protein_id": "XP_047279672.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 166,
"cds_start": 291,
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"cdna_start": 1538,
"cdna_end": null,
"cdna_length": 3689,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423716.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM163B",
"gene_hgnc_id": 33277,
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Cys97Trp",
"transcript": "XM_047423717.1",
"protein_id": "XP_047279673.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 166,
"cds_start": 291,
"cds_end": null,
"cds_length": 501,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 2859,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423717.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM163B",
"gene_hgnc_id": 33277,
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Cys97Trp",
"transcript": "XM_047423718.1",
"protein_id": "XP_047279674.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
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"cdna_start": 395,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047423718.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FAM163B",
"gene_hgnc_id": 33277,
"hgvs_c": "c.94-25C>G",
"hgvs_p": null,
"transcript": "ENST00000886830.1",
"protein_id": "ENSP00000556889.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": 2666,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000886830.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM163B",
"gene_hgnc_id": 33277,
"hgvs_c": "c.94-25C>G",
"hgvs_p": null,
"transcript": "ENST00000886831.1",
"protein_id": "ENSP00000556890.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 92,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886831.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124902296",
"gene_hgnc_id": null,
"hgvs_c": "n.-206G>C",
"hgvs_p": null,
"transcript": "XR_007061833.1",
"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": 958,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007061833.1"
}
],
"gene_symbol": "FAM163B",
"gene_hgnc_id": 33277,
"dbsnp": "rs1321039462",
"frequency_reference_population": 0.000002740672,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000274067,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07658842206001282,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.059,
"revel_prediction": "Benign",
"alphamissense_score": 0.13,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.247,
"phylop100way_prediction": "Benign",
"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": 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_001080515.3",
"gene_symbol": "FAM163B",
"hgnc_id": 33277,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Cys97Trp"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007061833.1",
"gene_symbol": "LOC124902296",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-206G>C",
"hgvs_p": null
}
],
"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
}