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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: 3-382251-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=382251&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CHL1",
"hgnc_id": 1939,
"hgvs_c": "c.1949C>G",
"hgvs_p": "p.Ala650Gly",
"inheritance_mode": "AD",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_006614.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CHL1-AS1",
"hgnc_id": 40148,
"hgvs_c": "n.259+316G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000417612.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.1962,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.25,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7876909971237183,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1224,
"aa_ref": "A",
"aa_start": 650,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7856,
"cdna_start": 2424,
"cds_end": null,
"cds_length": 3675,
"cds_start": 1949,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_006614.4",
"gene_hgnc_id": 1939,
"gene_symbol": "CHL1",
"hgvs_c": "c.1949C>G",
"hgvs_p": "p.Ala650Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000256509.7",
"protein_coding": true,
"protein_id": "NP_006605.2",
"strand": true,
"transcript": "NM_006614.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1224,
"aa_ref": "A",
"aa_start": 650,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7856,
"cdna_start": 2424,
"cds_end": null,
"cds_length": 3675,
"cds_start": 1949,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000256509.7",
"gene_hgnc_id": 1939,
"gene_symbol": "CHL1",
"hgvs_c": "c.1949C>G",
"hgvs_p": "p.Ala650Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006614.4",
"protein_coding": true,
"protein_id": "ENSP00000256509.2",
"strand": true,
"transcript": "ENST00000256509.7",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1208,
"aa_ref": "A",
"aa_start": 634,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5235,
"cdna_start": 2368,
"cds_end": null,
"cds_length": 3627,
"cds_start": 1901,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000397491.6",
"gene_hgnc_id": 1939,
"gene_symbol": "CHL1",
"hgvs_c": "c.1901C>G",
"hgvs_p": "p.Ala634Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380628.2",
"strand": true,
"transcript": "ENST00000397491.6",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1171,
"aa_ref": "A",
"aa_start": 650,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7311,
"cdna_start": 2043,
"cds_end": null,
"cds_length": 3516,
"cds_start": 1949,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000620033.4",
"gene_hgnc_id": 1939,
"gene_symbol": "CHL1",
"hgvs_c": "c.1949C>G",
"hgvs_p": "p.Ala650Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483512.1",
"strand": true,
"transcript": "ENST00000620033.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 913,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000417612.1",
"gene_hgnc_id": 40148,
"gene_symbol": "CHL1-AS1",
"hgvs_c": "n.259+316G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000417612.1",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1208,
"aa_ref": "A",
"aa_start": 634,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7808,
"cdna_start": 2376,
"cds_end": null,
"cds_length": 3627,
"cds_start": 1901,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001253387.2",
"gene_hgnc_id": 1939,
"gene_symbol": "CHL1",
"hgvs_c": "c.1901C>G",
"hgvs_p": "p.Ala634Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001240316.1",
"strand": true,
"transcript": "NM_001253387.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1171,
"aa_ref": "A",
"aa_start": 650,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7316,
"cdna_start": 2043,
"cds_end": null,
"cds_length": 3516,
"cds_start": 1949,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001253388.1",
"gene_hgnc_id": 1939,
"gene_symbol": "CHL1",
"hgvs_c": "c.1949C>G",
"hgvs_p": "p.Ala650Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001240317.1",
"strand": true,
"transcript": "NM_001253388.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1224,
"aa_ref": "A",
"aa_start": 650,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7617,
"cdna_start": 2185,
"cds_end": null,
"cds_length": 3675,
"cds_start": 1949,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_006712938.2",
"gene_hgnc_id": 1939,
"gene_symbol": "CHL1",
"hgvs_c": "c.1949C>G",
"hgvs_p": "p.Ala650Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006713001.1",
"strand": true,
"transcript": "XM_006712938.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1224,
"aa_ref": "A",
"aa_start": 650,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7776,
"cdna_start": 2344,
"cds_end": null,
"cds_length": 3675,
"cds_start": 1949,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_006712939.4",
"gene_hgnc_id": 1939,
"gene_symbol": "CHL1",
"hgvs_c": "c.1949C>G",
"hgvs_p": "p.Ala650Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006713002.1",
"strand": true,
"transcript": "XM_006712939.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1224,
"aa_ref": "A",
"aa_start": 650,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7679,
"cdna_start": 2247,
"cds_end": null,
"cds_length": 3675,
"cds_start": 1949,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_006712940.4",
"gene_hgnc_id": 1939,
"gene_symbol": "CHL1",
"hgvs_c": "c.1949C>G",
"hgvs_p": "p.Ala650Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006713003.1",
"strand": true,
"transcript": "XM_006712940.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1224,
"aa_ref": "A",
"aa_start": 650,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7759,
"cdna_start": 2327,
"cds_end": null,
"cds_length": 3675,
"cds_start": 1949,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_011533292.2",
"gene_hgnc_id": 1939,
"gene_symbol": "CHL1",
"hgvs_c": "c.1949C>G",
"hgvs_p": "p.Ala650Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531594.1",
"strand": true,
"transcript": "XM_011533292.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1224,
"aa_ref": "A",
"aa_start": 650,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12353,
"cdna_start": 6921,
"cds_end": null,
"cds_length": 3675,
"cds_start": 1949,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_017005566.2",
"gene_hgnc_id": 1939,
"gene_symbol": "CHL1",
"hgvs_c": "c.1949C>G",
"hgvs_p": "p.Ala650Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861055.1",
"strand": true,
"transcript": "XM_017005566.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 1224,
"aa_ref": "A",
"aa_start": 650,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7537,
"cdna_start": 2105,
"cds_end": null,
"cds_length": 3675,
"cds_start": 1949,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_017005567.2",
"gene_hgnc_id": 1939,
"gene_symbol": "CHL1",
"hgvs_c": "c.1949C>G",
"hgvs_p": "p.Ala650Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861056.1",
"strand": true,
"transcript": "XM_017005567.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1208,
"aa_ref": "A",
"aa_start": 634,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7569,
"cdna_start": 2137,
"cds_end": null,
"cds_length": 3627,
"cds_start": 1901,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_011533294.2",
"gene_hgnc_id": 1939,
"gene_symbol": "CHL1",
"hgvs_c": "c.1901C>G",
"hgvs_p": "p.Ala634Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531596.1",
"strand": true,
"transcript": "XM_011533294.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1208,
"aa_ref": "A",
"aa_start": 634,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7711,
"cdna_start": 2279,
"cds_end": null,
"cds_length": 3627,
"cds_start": 1901,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_011533295.2",
"gene_hgnc_id": 1939,
"gene_symbol": "CHL1",
"hgvs_c": "c.1901C>G",
"hgvs_p": "p.Ala634Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531597.1",
"strand": true,
"transcript": "XM_011533295.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1208,
"aa_ref": "A",
"aa_start": 634,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7728,
"cdna_start": 2296,
"cds_end": null,
"cds_length": 3627,
"cds_start": 1901,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_017005569.2",
"gene_hgnc_id": 1939,
"gene_symbol": "CHL1",
"hgvs_c": "c.1901C>G",
"hgvs_p": "p.Ala634Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861058.1",
"strand": true,
"transcript": "XM_017005569.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 1208,
"aa_ref": "A",
"aa_start": 634,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7631,
"cdna_start": 2199,
"cds_end": null,
"cds_length": 3627,
"cds_start": 1901,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_017005570.2",
"gene_hgnc_id": 1939,
"gene_symbol": "CHL1",
"hgvs_c": "c.1901C>G",
"hgvs_p": "p.Ala634Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861059.1",
"strand": true,
"transcript": "XM_017005570.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7489,
"cdna_start": 2057,
"cds_end": null,
"cds_length": 3627,
"cds_start": 1901,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_017005571.2",
"gene_hgnc_id": 1939,
"gene_symbol": "CHL1",
"hgvs_c": "c.1901C>G",
"hgvs_p": "p.Ala634Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861060.1",
"strand": true,
"transcript": "XM_017005571.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 1171,
"aa_ref": "A",
"aa_start": 650,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7458,
"cdna_start": 2185,
"cds_end": null,
"cds_length": 3516,
"cds_start": 1949,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_011533296.2",
"gene_hgnc_id": 1939,
"gene_symbol": "CHL1",
"hgvs_c": "c.1949C>G",
"hgvs_p": "p.Ala650Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531598.1",
"strand": true,
"transcript": "XM_011533296.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1171,
"aa_ref": "A",
"aa_start": 650,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7697,
"cdna_start": 2424,
"cds_end": null,
"cds_length": 3516,
"cds_start": 1949,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_017005572.2",
"gene_hgnc_id": 1939,
"gene_symbol": "CHL1",
"hgvs_c": "c.1949C>G",
"hgvs_p": "p.Ala650Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861061.1",
"strand": true,
"transcript": "XM_017005572.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1171,
"aa_ref": "A",
"aa_start": 650,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7617,
"cdna_start": 2344,
"cds_end": null,
"cds_length": 3516,
"cds_start": 1949,
"consequences": [
"missense_variant"
],
"exon_count": 26,
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