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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: 9-35106602-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=35106602&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ATOSB",
"hgnc_id": 25666,
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Ser332Thr",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_025182.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 23,
"alphamissense_prediction": null,
"alphamissense_score": 0.0826,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"chr": "9",
"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": 0.04362517595291138,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 538,
"aa_ref": "S",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2998,
"cdna_start": 1272,
"cds_end": null,
"cds_length": 1617,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_025182.4",
"gene_hgnc_id": 25666,
"gene_symbol": "ATOSB",
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Ser332Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000322813.10",
"protein_coding": true,
"protein_id": "NP_079458.2",
"strand": false,
"transcript": "NM_025182.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 538,
"aa_ref": "S",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2998,
"cdna_start": 1272,
"cds_end": null,
"cds_length": 1617,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000322813.10",
"gene_hgnc_id": 25666,
"gene_symbol": "ATOSB",
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Ser332Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_025182.4",
"protein_coding": true,
"protein_id": "ENSP00000319897.5",
"strand": false,
"transcript": "ENST00000322813.10",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 538,
"aa_ref": "S",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3070,
"cdna_start": 1369,
"cds_end": null,
"cds_length": 1617,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000378557.1",
"gene_hgnc_id": 25666,
"gene_symbol": "ATOSB",
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Ser332Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367819.1",
"strand": false,
"transcript": "ENST00000378557.1",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 538,
"aa_ref": "S",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5771,
"cdna_start": 4051,
"cds_end": null,
"cds_length": 1617,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000378561.5",
"gene_hgnc_id": 25666,
"gene_symbol": "ATOSB",
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Ser332Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367823.1",
"strand": false,
"transcript": "ENST00000378561.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 538,
"aa_ref": "S",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3256,
"cdna_start": 1534,
"cds_end": null,
"cds_length": 1617,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000603301.5",
"gene_hgnc_id": 25666,
"gene_symbol": "ATOSB",
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Ser332Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000474335.1",
"strand": false,
"transcript": "ENST00000603301.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 538,
"aa_ref": "S",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3124,
"cdna_start": 1398,
"cds_end": null,
"cds_length": 1617,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001317991.2",
"gene_hgnc_id": 25666,
"gene_symbol": "ATOSB",
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Ser332Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001304920.1",
"strand": false,
"transcript": "NM_001317991.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 538,
"aa_ref": "S",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2999,
"cdna_start": 1277,
"cds_end": null,
"cds_length": 1617,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000488109.6",
"gene_hgnc_id": 25666,
"gene_symbol": "ATOSB",
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Ser332Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000475120.1",
"strand": false,
"transcript": "ENST00000488109.6",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 538,
"aa_ref": "S",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3016,
"cdna_start": 1294,
"cds_end": null,
"cds_length": 1617,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000605244.5",
"gene_hgnc_id": 25666,
"gene_symbol": "ATOSB",
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Ser332Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000474833.1",
"strand": false,
"transcript": "ENST00000605244.5",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 538,
"aa_ref": "S",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3005,
"cdna_start": 1281,
"cds_end": null,
"cds_length": 1617,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000903792.1",
"gene_hgnc_id": 25666,
"gene_symbol": "ATOSB",
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Ser332Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573851.1",
"strand": false,
"transcript": "ENST00000903792.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 538,
"aa_ref": "S",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3053,
"cdna_start": 1323,
"cds_end": null,
"cds_length": 1617,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000903793.1",
"gene_hgnc_id": 25666,
"gene_symbol": "ATOSB",
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Ser332Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573852.1",
"strand": false,
"transcript": "ENST00000903793.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 538,
"aa_ref": "S",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3268,
"cdna_start": 1538,
"cds_end": null,
"cds_length": 1617,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000903794.1",
"gene_hgnc_id": 25666,
"gene_symbol": "ATOSB",
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Ser332Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573853.1",
"strand": false,
"transcript": "ENST00000903794.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 538,
"aa_ref": "S",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2973,
"cdna_start": 1251,
"cds_end": null,
"cds_length": 1617,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000903795.1",
"gene_hgnc_id": 25666,
"gene_symbol": "ATOSB",
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Ser332Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573854.1",
"strand": false,
"transcript": "ENST00000903795.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 538,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3062,
"cdna_start": 1340,
"cds_end": null,
"cds_length": 1617,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000903796.1",
"gene_hgnc_id": 25666,
"gene_symbol": "ATOSB",
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Ser332Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573855.1",
"strand": false,
"transcript": "ENST00000903796.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 538,
"aa_ref": "S",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3024,
"cdna_start": 1294,
"cds_end": null,
"cds_length": 1617,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000903799.1",
"gene_hgnc_id": 25666,
"gene_symbol": "ATOSB",
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Ser332Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573858.1",
"strand": false,
"transcript": "ENST00000903799.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 538,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2959,
"cdna_start": 1237,
"cds_end": null,
"cds_length": 1617,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000903800.1",
"gene_hgnc_id": 25666,
"gene_symbol": "ATOSB",
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Ser332Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573859.1",
"strand": false,
"transcript": "ENST00000903800.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 538,
"aa_ref": "S",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2983,
"cdna_start": 1288,
"cds_end": null,
"cds_length": 1617,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000903802.1",
"gene_hgnc_id": 25666,
"gene_symbol": "ATOSB",
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Ser332Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573861.1",
"strand": false,
"transcript": "ENST00000903802.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 538,
"aa_ref": "S",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2975,
"cdna_start": 1265,
"cds_end": null,
"cds_length": 1617,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000919194.1",
"gene_hgnc_id": 25666,
"gene_symbol": "ATOSB",
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Ser332Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589253.1",
"strand": false,
"transcript": "ENST00000919194.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 538,
"aa_ref": "S",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4683,
"cdna_start": 2961,
"cds_end": null,
"cds_length": 1617,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000919197.1",
"gene_hgnc_id": 25666,
"gene_symbol": "ATOSB",
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Ser332Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589256.1",
"strand": false,
"transcript": "ENST00000919197.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 537,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3036,
"cdna_start": 1321,
"cds_end": null,
"cds_length": 1614,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000971395.1",
"gene_hgnc_id": 25666,
"gene_symbol": "ATOSB",
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Ser332Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641454.1",
"strand": false,
"transcript": "ENST00000971395.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 532,
"aa_ref": "S",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3118,
"cdna_start": 1455,
"cds_end": null,
"cds_length": 1599,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000971396.1",
"gene_hgnc_id": 25666,
"gene_symbol": "ATOSB",
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Ser332Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641455.1",
"strand": false,
"transcript": "ENST00000971396.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 532,
"aa_ref": "S",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2955,
"cdna_start": 1255,
"cds_end": null,
"cds_length": 1599,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000971397.1",
"gene_hgnc_id": 25666,
"gene_symbol": "ATOSB",
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Ser332Thr",
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