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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: 3-184383572-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=184383572&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 184383572,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000204604.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRD",
"gene_hgnc_id": 1949,
"hgvs_c": "c.1370C>T",
"hgvs_p": "p.Thr457Ile",
"transcript": "NM_003741.4",
"protein_id": "NP_003732.2",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 955,
"cds_start": 1370,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 1635,
"cdna_end": null,
"cdna_length": 3540,
"mane_select": "ENST00000204604.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRD",
"gene_hgnc_id": 1949,
"hgvs_c": "c.1370C>T",
"hgvs_p": "p.Thr457Ile",
"transcript": "ENST00000204604.6",
"protein_id": "ENSP00000204604.1",
"transcript_support_level": 1,
"aa_start": 457,
"aa_end": null,
"aa_length": 955,
"cds_start": 1370,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 1635,
"cdna_end": null,
"cdna_length": 3540,
"mane_select": "NM_003741.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRD",
"gene_hgnc_id": 1949,
"hgvs_c": "c.1370C>T",
"hgvs_p": "p.Thr457Ile",
"transcript": "ENST00000450923.5",
"protein_id": "ENSP00000408972.1",
"transcript_support_level": 1,
"aa_start": 457,
"aa_end": null,
"aa_length": 954,
"cds_start": 1370,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 1482,
"cdna_end": null,
"cdna_length": 3384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRD",
"gene_hgnc_id": 1949,
"hgvs_c": "n.*288C>T",
"hgvs_p": null,
"transcript": "ENST00000420973.5",
"protein_id": "ENSP00000392794.1",
"transcript_support_level": 1,
"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": 3492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRD",
"gene_hgnc_id": 1949,
"hgvs_c": "n.*1111C>T",
"hgvs_p": null,
"transcript": "ENST00000448472.5",
"protein_id": "ENSP00000408624.1",
"transcript_support_level": 1,
"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": 3547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRD",
"gene_hgnc_id": 1949,
"hgvs_c": "n.*288C>T",
"hgvs_p": null,
"transcript": "ENST00000420973.5",
"protein_id": "ENSP00000392794.1",
"transcript_support_level": 1,
"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": 3492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRD",
"gene_hgnc_id": 1949,
"hgvs_c": "n.*1111C>T",
"hgvs_p": null,
"transcript": "ENST00000448472.5",
"protein_id": "ENSP00000408624.1",
"transcript_support_level": 1,
"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": 3547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRD",
"gene_hgnc_id": 1949,
"hgvs_c": "c.1370C>T",
"hgvs_p": "p.Thr457Ile",
"transcript": "NM_001304472.2",
"protein_id": "NP_001291401.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 954,
"cds_start": 1370,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 1635,
"cdna_end": null,
"cdna_length": 3537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRD",
"gene_hgnc_id": 1949,
"hgvs_c": "c.260C>T",
"hgvs_p": "p.Thr87Ile",
"transcript": "NM_001304473.2",
"protein_id": "NP_001291402.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 585,
"cds_start": 260,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1405,
"cdna_end": null,
"cdna_length": 4220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRD",
"gene_hgnc_id": 1949,
"hgvs_c": "c.260C>T",
"hgvs_p": "p.Thr87Ile",
"transcript": "NM_001304474.2",
"protein_id": "NP_001291403.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 585,
"cds_start": 260,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1350,
"cdna_end": null,
"cdna_length": 4165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRD",
"gene_hgnc_id": 1949,
"hgvs_c": "c.1451C>T",
"hgvs_p": "p.Thr484Ile",
"transcript": "XM_017007388.2",
"protein_id": "XP_016862877.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 982,
"cds_start": 1451,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 4531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRD",
"gene_hgnc_id": 1949,
"hgvs_c": "c.1451C>T",
"hgvs_p": "p.Thr484Ile",
"transcript": "XM_017007389.2",
"protein_id": "XP_016862878.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 981,
"cds_start": 1451,
"cds_end": null,
"cds_length": 2946,
"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 3618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRD",
"gene_hgnc_id": 1949,
"hgvs_c": "c.1451C>T",
"hgvs_p": "p.Thr484Ile",
"transcript": "XM_017007390.2",
"protein_id": "XP_016862879.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 894,
"cds_start": 1451,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 4267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRD",
"gene_hgnc_id": 1949,
"hgvs_c": "c.1451C>T",
"hgvs_p": "p.Thr484Ile",
"transcript": "XM_017007391.2",
"protein_id": "XP_016862880.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 893,
"cds_start": 1451,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 3354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRD",
"gene_hgnc_id": 1949,
"hgvs_c": "c.1370C>T",
"hgvs_p": "p.Thr457Ile",
"transcript": "XM_011513254.2",
"protein_id": "XP_011511556.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 867,
"cds_start": 1370,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 1635,
"cdna_end": null,
"cdna_length": 4186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRD",
"gene_hgnc_id": 1949,
"hgvs_c": "c.1370C>T",
"hgvs_p": "p.Thr457Ile",
"transcript": "XM_017007392.2",
"protein_id": "XP_016862881.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 866,
"cds_start": 1370,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 1635,
"cdna_end": null,
"cdna_length": 3273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRD",
"gene_hgnc_id": 1949,
"hgvs_c": "c.1451C>T",
"hgvs_p": "p.Thr484Ile",
"transcript": "XM_047449110.1",
"protein_id": "XP_047305066.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 830,
"cds_start": 1451,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 2835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRD",
"gene_hgnc_id": 1949,
"hgvs_c": "c.1451C>T",
"hgvs_p": "p.Thr484Ile",
"transcript": "XM_047449111.1",
"protein_id": "XP_047305067.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 817,
"cds_start": 1451,
"cds_end": null,
"cds_length": 2454,
"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 2796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRD",
"gene_hgnc_id": 1949,
"hgvs_c": "c.1451C>T",
"hgvs_p": "p.Thr484Ile",
"transcript": "XM_017007393.2",
"protein_id": "XP_016862882.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 679,
"cds_start": 1451,
"cds_end": null,
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"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 2486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRD",
"gene_hgnc_id": 1949,
"hgvs_c": "n.2393C>T",
"hgvs_p": null,
"transcript": "ENST00000460627.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 4719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRD",
"gene_hgnc_id": 1949,
"hgvs_c": "n.1526C>T",
"hgvs_p": null,
"transcript": "ENST00000470150.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 4234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRD",
"gene_hgnc_id": 1949,
"hgvs_c": "n.1537C>T",
"hgvs_p": null,
"transcript": "NR_130747.2",
"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": 4248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CHRD",
"gene_hgnc_id": 1949,
"hgvs_c": "c.1320+154C>T",
"hgvs_p": null,
"transcript": "ENST00000348986.3",
"protein_id": "ENSP00000334036.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 915,
"cds_start": -4,
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}
],
"gene_symbol": "CHRD",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6293073892593384,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.162,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.689,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
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"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000204604.6",
"gene_symbol": "CHRD",
"hgnc_id": 1949,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1370C>T",
"hgvs_p": "p.Thr457Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}