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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: 12-31981273-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=31981273&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RESF1",
"hgnc_id": 25559,
"hgvs_c": "c.318C>G",
"hgvs_p": "p.His106Gln",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_018169.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1141,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.74,
"chr": "12",
"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": 0.12308833003044128,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1747,
"aa_ref": "H",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6234,
"cdna_start": 736,
"cds_end": null,
"cds_length": 5244,
"cds_start": 318,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_018169.4",
"gene_hgnc_id": 25559,
"gene_symbol": "RESF1",
"hgvs_c": "c.318C>G",
"hgvs_p": "p.His106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000312561.9",
"protein_coding": true,
"protein_id": "NP_060639.4",
"strand": true,
"transcript": "NM_018169.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1747,
"aa_ref": "H",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6234,
"cdna_start": 736,
"cds_end": null,
"cds_length": 5244,
"cds_start": 318,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000312561.9",
"gene_hgnc_id": 25559,
"gene_symbol": "RESF1",
"hgvs_c": "c.318C>G",
"hgvs_p": "p.His106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018169.4",
"protein_coding": true,
"protein_id": "ENSP00000310338.4",
"strand": true,
"transcript": "ENST00000312561.9",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1747,
"aa_ref": "H",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6003,
"cdna_start": 505,
"cds_end": null,
"cds_length": 5244,
"cds_start": 318,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000913392.1",
"gene_hgnc_id": 25559,
"gene_symbol": "RESF1",
"hgvs_c": "c.318C>G",
"hgvs_p": "p.His106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583451.1",
"strand": true,
"transcript": "ENST00000913392.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1747,
"aa_ref": "H",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6344,
"cdna_start": 849,
"cds_end": null,
"cds_length": 5244,
"cds_start": 318,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000913394.1",
"gene_hgnc_id": 25559,
"gene_symbol": "RESF1",
"hgvs_c": "c.318C>G",
"hgvs_p": "p.His106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583453.1",
"strand": true,
"transcript": "ENST00000913394.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1747,
"aa_ref": "H",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6107,
"cdna_start": 612,
"cds_end": null,
"cds_length": 5244,
"cds_start": 318,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000913395.1",
"gene_hgnc_id": 25559,
"gene_symbol": "RESF1",
"hgvs_c": "c.318C>G",
"hgvs_p": "p.His106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583454.1",
"strand": true,
"transcript": "ENST00000913395.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1747,
"aa_ref": "H",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6522,
"cdna_start": 1028,
"cds_end": null,
"cds_length": 5244,
"cds_start": 318,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000913397.1",
"gene_hgnc_id": 25559,
"gene_symbol": "RESF1",
"hgvs_c": "c.318C>G",
"hgvs_p": "p.His106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583456.1",
"strand": true,
"transcript": "ENST00000913397.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1747,
"aa_ref": "H",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6285,
"cdna_start": 787,
"cds_end": null,
"cds_length": 5244,
"cds_start": 318,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000913398.1",
"gene_hgnc_id": 25559,
"gene_symbol": "RESF1",
"hgvs_c": "c.318C>G",
"hgvs_p": "p.His106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583457.1",
"strand": true,
"transcript": "ENST00000913398.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1747,
"aa_ref": "H",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6374,
"cdna_start": 886,
"cds_end": null,
"cds_length": 5244,
"cds_start": 318,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000952432.1",
"gene_hgnc_id": 25559,
"gene_symbol": "RESF1",
"hgvs_c": "c.318C>G",
"hgvs_p": "p.His106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622491.1",
"strand": true,
"transcript": "ENST00000952432.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1747,
"aa_ref": "H",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7012,
"cdna_start": 1525,
"cds_end": null,
"cds_length": 5244,
"cds_start": 318,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000952433.1",
"gene_hgnc_id": 25559,
"gene_symbol": "RESF1",
"hgvs_c": "c.318C>G",
"hgvs_p": "p.His106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622492.1",
"strand": true,
"transcript": "ENST00000952433.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1747,
"aa_ref": "H",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6347,
"cdna_start": 859,
"cds_end": null,
"cds_length": 5244,
"cds_start": 318,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000952434.1",
"gene_hgnc_id": 25559,
"gene_symbol": "RESF1",
"hgvs_c": "c.318C>G",
"hgvs_p": "p.His106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622493.1",
"strand": true,
"transcript": "ENST00000952434.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1747,
"aa_ref": "H",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6129,
"cdna_start": 642,
"cds_end": null,
"cds_length": 5244,
"cds_start": 318,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000952435.1",
"gene_hgnc_id": 25559,
"gene_symbol": "RESF1",
"hgvs_c": "c.318C>G",
"hgvs_p": "p.His106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622494.1",
"strand": true,
"transcript": "ENST00000952435.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1745,
"aa_ref": "H",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6240,
"cdna_start": 741,
"cds_end": null,
"cds_length": 5238,
"cds_start": 318,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000913393.1",
"gene_hgnc_id": 25559,
"gene_symbol": "RESF1",
"hgvs_c": "c.318C>G",
"hgvs_p": "p.His106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583452.1",
"strand": true,
"transcript": "ENST00000913393.1",
"transcript_support_level": null
},
{
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"aa_length": 1719,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6117,
"cdna_start": 703,
"cds_end": null,
"cds_length": 5160,
"cds_start": 318,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000913396.1",
"gene_hgnc_id": 25559,
"gene_symbol": "RESF1",
"hgvs_c": "c.318C>G",
"hgvs_p": "p.His106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583455.1",
"strand": true,
"transcript": "ENST00000913396.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 673,
"aa_ref": "H",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2326,
"cdna_start": 620,
"cds_end": null,
"cds_length": 2024,
"cds_start": 318,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000381054.3",
"gene_hgnc_id": 25559,
"gene_symbol": "RESF1",
"hgvs_c": "c.318C>G",
"hgvs_p": "p.His106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000370442.3",
"strand": true,
"transcript": "ENST00000381054.3",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
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"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6066,
"cdna_start": 568,
"cds_end": null,
"cds_length": 5244,
"cds_start": 318,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_005253405.4",
"gene_hgnc_id": 25559,
"gene_symbol": "RESF1",
"hgvs_c": "c.318C>G",
"hgvs_p": "p.His106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005253462.1",
"strand": true,
"transcript": "XM_005253405.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1747,
"aa_ref": "H",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6643,
"cdna_start": 1145,
"cds_end": null,
"cds_length": 5244,
"cds_start": 318,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011520722.2",
"gene_hgnc_id": 25559,
"gene_symbol": "RESF1",
"hgvs_c": "c.318C>G",
"hgvs_p": "p.His106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519024.1",
"strand": true,
"transcript": "XM_011520722.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1747,
"aa_ref": "H",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6475,
"cdna_start": 977,
"cds_end": null,
"cds_length": 5244,
"cds_start": 318,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017019550.3",
"gene_hgnc_id": 25559,
"gene_symbol": "RESF1",
"hgvs_c": "c.318C>G",
"hgvs_p": "p.His106Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875039.1",
"strand": true,
"transcript": "XM_017019550.3",
"transcript_support_level": null
},
{
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"aa_ref": "H",
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"cdna_end": null,
"cdna_length": 5559,
"cdna_start": 736,
"cds_end": null,
"cds_length": 5031,
"cds_start": 318,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_006719099.4",
"gene_hgnc_id": 25559,
"gene_symbol": "RESF1",
"hgvs_c": "c.318C>G",
"hgvs_p": "p.His106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006719162.1",
"strand": true,
"transcript": "XM_006719099.4",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1348,
"cdna_start": null,
"cds_end": null,
"cds_length": 402,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000870365.1",
"gene_hgnc_id": 25559,
"gene_symbol": "RESF1",
"hgvs_c": "c.160+158C>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540424.1",
"strand": true,
"transcript": "ENST00000870365.1",
"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": 814,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000397578.7",
"gene_hgnc_id": 25559,
"gene_symbol": "RESF1",
"hgvs_c": "n.139-5966C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000397578.7",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 965,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000535596.5",
"gene_hgnc_id": 25559,
"gene_symbol": "RESF1",
"hgvs_c": "n.318-5966C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": false,
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]
}