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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: 16-53156773-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=53156773&ref=G&alt=A&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": "CHD9",
"hgnc_id": 25701,
"hgvs_c": "c.684G>A",
"hgvs_p": "p.Met228Ile",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001308319.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.1254,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"chr": "16",
"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": 0.10392346978187561,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2897,
"aa_ref": "M",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11547,
"cdna_start": 935,
"cds_end": null,
"cds_length": 8694,
"cds_start": 684,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001308319.2",
"gene_hgnc_id": 25701,
"gene_symbol": "CHD9",
"hgvs_c": "c.684G>A",
"hgvs_p": "p.Met228Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000447540.6",
"protein_coding": true,
"protein_id": "NP_001295248.1",
"strand": true,
"transcript": "NM_001308319.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2897,
"aa_ref": "M",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 11547,
"cdna_start": 935,
"cds_end": null,
"cds_length": 8694,
"cds_start": 684,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000447540.6",
"gene_hgnc_id": 25701,
"gene_symbol": "CHD9",
"hgvs_c": "c.684G>A",
"hgvs_p": "p.Met228Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001308319.2",
"protein_coding": true,
"protein_id": "ENSP00000396345.2",
"strand": true,
"transcript": "ENST00000447540.6",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2897,
"aa_ref": "M",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11337,
"cdna_start": 771,
"cds_end": null,
"cds_length": 8694,
"cds_start": 684,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000398510.7",
"gene_hgnc_id": 25701,
"gene_symbol": "CHD9",
"hgvs_c": "c.684G>A",
"hgvs_p": "p.Met228Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381522.3",
"strand": true,
"transcript": "ENST00000398510.7",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2881,
"aa_ref": "M",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11504,
"cdna_start": 986,
"cds_end": null,
"cds_length": 8646,
"cds_start": 684,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000564845.5",
"gene_hgnc_id": 25701,
"gene_symbol": "CHD9",
"hgvs_c": "c.684G>A",
"hgvs_p": "p.Met228Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455307.1",
"strand": true,
"transcript": "ENST00000564845.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2881,
"aa_ref": "M",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13110,
"cdna_start": 893,
"cds_end": null,
"cds_length": 8646,
"cds_start": 684,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000566029.5",
"gene_hgnc_id": 25701,
"gene_symbol": "CHD9",
"hgvs_c": "c.684G>A",
"hgvs_p": "p.Met228Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457466.1",
"strand": true,
"transcript": "ENST00000566029.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 631,
"aa_ref": "M",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2169,
"cdna_start": 957,
"cds_end": null,
"cds_length": 1896,
"cds_start": 684,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000565832.5",
"gene_hgnc_id": 25701,
"gene_symbol": "CHD9",
"hgvs_c": "c.684G>A",
"hgvs_p": "p.Met228Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456793.1",
"strand": true,
"transcript": "ENST00000565832.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2897,
"aa_ref": "M",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11507,
"cdna_start": 895,
"cds_end": null,
"cds_length": 8694,
"cds_start": 684,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001382353.1",
"gene_hgnc_id": 25701,
"gene_symbol": "CHD9",
"hgvs_c": "c.684G>A",
"hgvs_p": "p.Met228Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369282.1",
"strand": true,
"transcript": "NM_001382353.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2881,
"aa_ref": "M",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11459,
"cdna_start": 895,
"cds_end": null,
"cds_length": 8646,
"cds_start": 684,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001352127.3",
"gene_hgnc_id": 25701,
"gene_symbol": "CHD9",
"hgvs_c": "c.684G>A",
"hgvs_p": "p.Met228Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339056.1",
"strand": true,
"transcript": "NM_001352127.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2881,
"aa_ref": "M",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11499,
"cdna_start": 935,
"cds_end": null,
"cds_length": 8646,
"cds_start": 684,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_025134.7",
"gene_hgnc_id": 25701,
"gene_symbol": "CHD9",
"hgvs_c": "c.684G>A",
"hgvs_p": "p.Met228Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_079410.4",
"strand": true,
"transcript": "NM_025134.7",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2898,
"aa_ref": "M",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11550,
"cdna_start": 935,
"cds_end": null,
"cds_length": 8697,
"cds_start": 684,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_005256168.5",
"gene_hgnc_id": 25701,
"gene_symbol": "CHD9",
"hgvs_c": "c.684G>A",
"hgvs_p": "p.Met228Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005256225.1",
"strand": true,
"transcript": "XM_005256168.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2898,
"aa_ref": "M",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11510,
"cdna_start": 895,
"cds_end": null,
"cds_length": 8697,
"cds_start": 684,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_006721281.3",
"gene_hgnc_id": 25701,
"gene_symbol": "CHD9",
"hgvs_c": "c.684G>A",
"hgvs_p": "p.Met228Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721344.1",
"strand": true,
"transcript": "XM_006721281.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2898,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11750,
"cdna_start": 1135,
"cds_end": null,
"cds_length": 8697,
"cds_start": 684,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_006721283.4",
"gene_hgnc_id": 25701,
"gene_symbol": "CHD9",
"hgvs_c": "c.684G>A",
"hgvs_p": "p.Met228Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721346.1",
"strand": true,
"transcript": "XM_006721283.4",
"transcript_support_level": null
},
{
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"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11606,
"cdna_start": 991,
"cds_end": null,
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"cds_start": 684,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011523347.3",
"gene_hgnc_id": 25701,
"gene_symbol": "CHD9",
"hgvs_c": "c.684G>A",
"hgvs_p": "p.Met228Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011521649.1",
"strand": true,
"transcript": "XM_011523347.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2898,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11743,
"cdna_start": 1128,
"cds_end": null,
"cds_length": 8697,
"cds_start": 684,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017023719.2",
"gene_hgnc_id": 25701,
"gene_symbol": "CHD9",
"hgvs_c": "c.684G>A",
"hgvs_p": "p.Met228Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016879208.1",
"strand": true,
"transcript": "XM_017023719.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 2898,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11646,
"cdna_start": 1031,
"cds_end": null,
"cds_length": 8697,
"cds_start": 684,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017023720.2",
"gene_hgnc_id": 25701,
"gene_symbol": "CHD9",
"hgvs_c": "c.684G>A",
"hgvs_p": "p.Met228Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016879209.1",
"strand": true,
"transcript": "XM_017023720.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 2898,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11647,
"cdna_start": 1032,
"cds_end": null,
"cds_length": 8697,
"cds_start": 684,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_024450459.2",
"gene_hgnc_id": 25701,
"gene_symbol": "CHD9",
"hgvs_c": "c.684G>A",
"hgvs_p": "p.Met228Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306227.1",
"strand": true,
"transcript": "XM_024450459.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2898,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11703,
"cdna_start": 1088,
"cds_end": null,
"cds_length": 8697,
"cds_start": 684,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047434687.1",
"gene_hgnc_id": 25701,
"gene_symbol": "CHD9",
"hgvs_c": "c.684G>A",
"hgvs_p": "p.Met228Ile",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047290643.1",
"strand": true,
"transcript": "XM_047434687.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"biotype": "protein_coding",
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"cds_end": null,
"cds_length": 8697,
"cds_start": 684,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047434688.1",
"gene_hgnc_id": 25701,
"gene_symbol": "CHD9",
"hgvs_c": "c.684G>A",
"hgvs_p": "p.Met228Ile",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047290644.1",
"strand": true,
"transcript": "XM_047434688.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_ref": "M",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 11846,
"cdna_start": 1231,
"cds_end": null,
"cds_length": 8697,
"cds_start": 684,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047434689.1",
"gene_hgnc_id": 25701,
"gene_symbol": "CHD9",
"hgvs_c": "c.684G>A",
"hgvs_p": "p.Met228Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290645.1",
"strand": true,
"transcript": "XM_047434689.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 2898,
"aa_ref": "M",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11847,
"cdna_start": 1232,
"cds_end": null,
"cds_length": 8697,
"cds_start": 684,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047434690.1",
"gene_hgnc_id": 25701,
"gene_symbol": "CHD9",
"hgvs_c": "c.684G>A",
"hgvs_p": "p.Met228Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290646.1",
"strand": true,
"transcript": "XM_047434690.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2898,
"aa_ref": "M",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12923,
"cdna_start": 2308,
"cds_end": null,
"cds_length": 8697,
"cds_start": 684,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047434691.1",
"gene_hgnc_id": 25701,
"gene_symbol": "CHD9",
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"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007064921.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 25701,
"gene_symbol": "CHD9",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.838,
"pos": 53156773,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.192,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001308319.2"
}
]
}