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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: 20-6006308-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=6006308&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"gene_symbol": "CRLS1",
"hgnc_id": 16148,
"hgvs_c": "c.-334C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001323563.2",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000286235",
"hgnc_id": null,
"hgvs_c": "c.2431-3467C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "ENST00000652720.1",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MCM8-AS1",
"hgnc_id": 51230,
"hgvs_c": "n.44+809G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "ENST00000723982.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 35,
"alphamissense_prediction": null,
"alphamissense_score": 0.1218,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.64,
"chr": "20",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.06162881851196289,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 301,
"aa_ref": "P",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3925,
"cdna_start": 186,
"cds_end": null,
"cds_length": 906,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_019095.6",
"gene_hgnc_id": 16148,
"gene_symbol": "CRLS1",
"hgvs_c": "c.62C>T",
"hgvs_p": "p.Pro21Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000378863.9",
"protein_coding": true,
"protein_id": "NP_061968.1",
"strand": true,
"transcript": "NM_019095.6",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 301,
"aa_ref": "P",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3925,
"cdna_start": 186,
"cds_end": null,
"cds_length": 906,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000378863.9",
"gene_hgnc_id": 16148,
"gene_symbol": "CRLS1",
"hgvs_c": "c.62C>T",
"hgvs_p": "p.Pro21Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_019095.6",
"protein_coding": true,
"protein_id": "ENSP00000368140.4",
"strand": true,
"transcript": "ENST00000378863.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 205,
"aa_ref": "P",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3859,
"cdna_start": 216,
"cds_end": null,
"cds_length": 618,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000452938.5",
"gene_hgnc_id": 16148,
"gene_symbol": "CRLS1",
"hgvs_c": "c.62C>T",
"hgvs_p": "p.Pro21Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416770.1",
"strand": true,
"transcript": "ENST00000452938.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1009,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5862,
"cdna_start": null,
"cds_end": null,
"cds_length": 3030,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000652720.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000286235",
"hgvs_c": "c.2431-3467C>T",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498784.1",
"strand": true,
"transcript": "ENST00000652720.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 190,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3987,
"cdna_start": null,
"cds_end": null,
"cds_length": 573,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001323563.2",
"gene_hgnc_id": 16148,
"gene_symbol": "CRLS1",
"hgvs_c": "c.-334C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310492.1",
"strand": true,
"transcript": "NM_001323563.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 339,
"aa_ref": "P",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2026,
"cdna_start": 190,
"cds_end": null,
"cds_length": 1020,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000902854.1",
"gene_hgnc_id": 16148,
"gene_symbol": "CRLS1",
"hgvs_c": "c.62C>T",
"hgvs_p": "p.Pro21Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572913.1",
"strand": true,
"transcript": "ENST00000902854.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 295,
"aa_ref": "P",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1292,
"cdna_start": 233,
"cds_end": null,
"cds_length": 888,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000902855.1",
"gene_hgnc_id": 16148,
"gene_symbol": "CRLS1",
"hgvs_c": "c.62C>T",
"hgvs_p": "p.Pro21Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572914.1",
"strand": true,
"transcript": "ENST00000902855.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 255,
"aa_ref": "P",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3555,
"cdna_start": 249,
"cds_end": null,
"cds_length": 768,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000902853.1",
"gene_hgnc_id": 16148,
"gene_symbol": "CRLS1",
"hgvs_c": "c.62C>T",
"hgvs_p": "p.Pro21Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572912.1",
"strand": true,
"transcript": "ENST00000902853.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 229,
"aa_ref": "P",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3780,
"cdna_start": 257,
"cds_end": null,
"cds_length": 690,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000902851.1",
"gene_hgnc_id": 16148,
"gene_symbol": "CRLS1",
"hgvs_c": "c.62C>T",
"hgvs_p": "p.Pro21Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572910.1",
"strand": true,
"transcript": "ENST00000902851.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 206,
"aa_ref": "P",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3634,
"cdna_start": 186,
"cds_end": null,
"cds_length": 621,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000902852.1",
"gene_hgnc_id": 16148,
"gene_symbol": "CRLS1",
"hgvs_c": "c.62C>T",
"hgvs_p": "p.Pro21Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572911.1",
"strand": true,
"transcript": "ENST00000902852.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 160,
"aa_ref": "P",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 842,
"cdna_start": 186,
"cds_end": null,
"cds_length": 483,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000931460.1",
"gene_hgnc_id": 16148,
"gene_symbol": "CRLS1",
"hgvs_c": "c.62C>T",
"hgvs_p": "p.Pro21Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601519.1",
"strand": true,
"transcript": "ENST00000931460.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 207,
"aa_ref": "P",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 838,
"cdna_start": 186,
"cds_end": null,
"cds_length": 624,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047440224.1",
"gene_hgnc_id": 16148,
"gene_symbol": "CRLS1",
"hgvs_c": "c.62C>T",
"hgvs_p": "p.Pro21Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296180.1",
"strand": true,
"transcript": "XM_047440224.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 193,
"aa_ref": "P",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 827,
"cdna_start": 186,
"cds_end": null,
"cds_length": 582,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_011529263.3",
"gene_hgnc_id": 16148,
"gene_symbol": "CRLS1",
"hgvs_c": "c.62C>T",
"hgvs_p": "p.Pro21Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011527565.1",
"strand": true,
"transcript": "XM_011529263.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 153,
"aa_ref": "P",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 650,
"cdna_start": 186,
"cds_end": null,
"cds_length": 462,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047440225.1",
"gene_hgnc_id": 16148,
"gene_symbol": "CRLS1",
"hgvs_c": "c.62C>T",
"hgvs_p": "p.Pro21Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296181.1",
"strand": true,
"transcript": "XM_047440225.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 190,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3987,
"cdna_start": null,
"cds_end": null,
"cds_length": 573,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001323563.2",
"gene_hgnc_id": 16148,
"gene_symbol": "CRLS1",
"hgvs_c": "c.-334C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310492.1",
"strand": true,
"transcript": "NM_001323563.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 190,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3669,
"cdna_start": null,
"cds_end": null,
"cds_length": 573,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001323562.2",
"gene_hgnc_id": 16148,
"gene_symbol": "CRLS1",
"hgvs_c": "c.-28+197C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310491.1",
"strand": true,
"transcript": "NM_001323562.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3839,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NR_136617.2",
"gene_hgnc_id": 16148,
"gene_symbol": "CRLS1",
"hgvs_c": "n.186C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_136617.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 981,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XR_007067457.1",
"gene_hgnc_id": 16148,
"gene_symbol": "CRLS1",
"hgvs_c": "n.186C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007067457.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 893,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XR_007067458.1",
"gene_hgnc_id": 16148,
"gene_symbol": "CRLS1",
"hgvs_c": "n.186C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007067458.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 716,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000723982.1",
"gene_hgnc_id": 51230,
"gene_symbol": "MCM8-AS1",
"hgvs_c": "n.44+809G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000723982.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
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],
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"strand": false,
"transcript": "ENST00000723983.1",
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}
],
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"dbsnp": "rs904818573",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
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"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
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"ref": "C",
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"splice_source_selected": "max_spliceai",
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}
]
}