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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: 20-6032069-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=6032069&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 6032069,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_019095.6",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRLS1",
"gene_hgnc_id": 16148,
"hgvs_c": "c.718T>C",
"hgvs_p": "p.Phe240Leu",
"transcript": "NM_019095.6",
"protein_id": "NP_061968.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 301,
"cds_start": 718,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000378863.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019095.6"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRLS1",
"gene_hgnc_id": 16148,
"hgvs_c": "c.718T>C",
"hgvs_p": "p.Phe240Leu",
"transcript": "ENST00000378863.9",
"protein_id": "ENSP00000368140.4",
"transcript_support_level": 1,
"aa_start": 240,
"aa_end": null,
"aa_length": 301,
"cds_start": 718,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_019095.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378863.9"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286235",
"gene_hgnc_id": null,
"hgvs_c": "c.2842T>C",
"hgvs_p": "p.Phe948Leu",
"transcript": "ENST00000652720.1",
"protein_id": "ENSP00000498784.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2842,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652720.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRLS1",
"gene_hgnc_id": 16148,
"hgvs_c": "c.*14T>C",
"hgvs_p": null,
"transcript": "ENST00000452938.5",
"protein_id": "ENSP00000416770.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 205,
"cds_start": null,
"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": "ENST00000452938.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRLS1",
"gene_hgnc_id": 16148,
"hgvs_c": "c.832T>C",
"hgvs_p": "p.Phe278Leu",
"transcript": "ENST00000902854.1",
"protein_id": "ENSP00000572913.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 339,
"cds_start": 832,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902854.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRLS1",
"gene_hgnc_id": 16148,
"hgvs_c": "c.700T>C",
"hgvs_p": "p.Phe234Leu",
"transcript": "ENST00000902855.1",
"protein_id": "ENSP00000572914.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 295,
"cds_start": 700,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902855.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRLS1",
"gene_hgnc_id": 16148,
"hgvs_c": "c.580T>C",
"hgvs_p": "p.Phe194Leu",
"transcript": "ENST00000902853.1",
"protein_id": "ENSP00000572912.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 255,
"cds_start": 580,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902853.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRLS1",
"gene_hgnc_id": 16148,
"hgvs_c": "c.502T>C",
"hgvs_p": "p.Phe168Leu",
"transcript": "ENST00000902851.1",
"protein_id": "ENSP00000572910.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 229,
"cds_start": 502,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902851.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRLS1",
"gene_hgnc_id": 16148,
"hgvs_c": "c.421T>C",
"hgvs_p": "p.Phe141Leu",
"transcript": "NM_001127458.2",
"protein_id": "NP_001120930.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 202,
"cds_start": 421,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127458.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRLS1",
"gene_hgnc_id": 16148,
"hgvs_c": "c.421T>C",
"hgvs_p": "p.Phe141Leu",
"transcript": "ENST00000378868.4",
"protein_id": "ENSP00000368145.3",
"transcript_support_level": 5,
"aa_start": 141,
"aa_end": null,
"aa_length": 202,
"cds_start": 421,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378868.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRLS1",
"gene_hgnc_id": 16148,
"hgvs_c": "c.385T>C",
"hgvs_p": "p.Phe129Leu",
"transcript": "NM_001323561.2",
"protein_id": "NP_001310490.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 190,
"cds_start": 385,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323561.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRLS1",
"gene_hgnc_id": 16148,
"hgvs_c": "c.385T>C",
"hgvs_p": "p.Phe129Leu",
"transcript": "NM_001323562.2",
"protein_id": "NP_001310491.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 190,
"cds_start": 385,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323562.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRLS1",
"gene_hgnc_id": 16148,
"hgvs_c": "c.385T>C",
"hgvs_p": "p.Phe129Leu",
"transcript": "NM_001323563.2",
"protein_id": "NP_001310492.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 190,
"cds_start": 385,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323563.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRLS1",
"gene_hgnc_id": 16148,
"hgvs_c": "c.385T>C",
"hgvs_p": "p.Phe129Leu",
"transcript": "NM_001323564.2",
"protein_id": "NP_001310493.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 190,
"cds_start": 385,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323564.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRLS1",
"gene_hgnc_id": 16148,
"hgvs_c": "c.385T>C",
"hgvs_p": "p.Phe129Leu",
"transcript": "XM_005260738.5",
"protein_id": "XP_005260795.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 190,
"cds_start": 385,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260738.5"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CRLS1",
"gene_hgnc_id": 16148,
"hgvs_c": "c.445-2395T>C",
"hgvs_p": null,
"transcript": "ENST00000902852.1",
"protein_id": "ENSP00000572911.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 206,
"cds_start": null,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902852.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CRLS1",
"gene_hgnc_id": 16148,
"hgvs_c": "c.307-2395T>C",
"hgvs_p": null,
"transcript": "ENST00000931460.1",
"protein_id": "ENSP00000601519.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 160,
"cds_start": null,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931460.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRLS1",
"gene_hgnc_id": 16148,
"hgvs_c": "n.599T>C",
"hgvs_p": null,
"transcript": "ENST00000464921.5",
"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": "pseudogene",
"feature": "ENST00000464921.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRLS1",
"gene_hgnc_id": 16148,
"hgvs_c": "n.266T>C",
"hgvs_p": null,
"transcript": "ENST00000478846.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000478846.1"
},
{
"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": "CRLS1",
"gene_hgnc_id": 16148,
"hgvs_c": "n.573T>C",
"hgvs_p": null,
"transcript": "ENST00000489345.5",
"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": "pseudogene",
"feature": "ENST00000489345.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRLS1",
"gene_hgnc_id": 16148,
"hgvs_c": "n.756T>C",
"hgvs_p": null,
"transcript": "NR_136617.2",
"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": "NR_136617.2"
}
],
"gene_symbol": "CRLS1",
"gene_hgnc_id": 16148,
"dbsnp": "rs143054158",
"frequency_reference_population": 0.000017997198,
"hom_count_reference_population": 0,
"allele_count_reference_population": 29,
"gnomad_exomes_af": 0.0000109654,
"gnomad_genomes_af": 0.0000854016,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15609082579612732,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.408,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6514,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.368,
"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": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_019095.6",
"gene_symbol": "CRLS1",
"hgnc_id": 16148,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.718T>C",
"hgvs_p": "p.Phe240Leu"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000652720.1",
"gene_symbol": "ENSG00000286235",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2842T>C",
"hgvs_p": "p.Phe948Leu"
}
],
"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
}