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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: 7-65975066-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=65975066&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GUSB",
"hgnc_id": 4696,
"hgvs_c": "c.918G>T",
"hgvs_p": "p.Gln306His",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -1,
"transcript": "NM_000181.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_score": -1,
"allele_count_reference_population": 184,
"alphamissense_prediction": null,
"alphamissense_score": 0.1575,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.28,
"chr": "7",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases,Mucopolysaccharidosis type 7",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.32298725843429565,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 651,
"aa_ref": "Q",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2199,
"cdna_start": 948,
"cds_end": null,
"cds_length": 1956,
"cds_start": 918,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_000181.4",
"gene_hgnc_id": 4696,
"gene_symbol": "GUSB",
"hgvs_c": "c.918G>T",
"hgvs_p": "p.Gln306His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000304895.9",
"protein_coding": true,
"protein_id": "NP_000172.2",
"strand": false,
"transcript": "NM_000181.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 651,
"aa_ref": "Q",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2199,
"cdna_start": 948,
"cds_end": null,
"cds_length": 1956,
"cds_start": 918,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000304895.9",
"gene_hgnc_id": 4696,
"gene_symbol": "GUSB",
"hgvs_c": "c.918G>T",
"hgvs_p": "p.Gln306His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000181.4",
"protein_coding": true,
"protein_id": "ENSP00000302728.4",
"strand": false,
"transcript": "ENST00000304895.9",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 679,
"aa_ref": "Q",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2283,
"cdna_start": 1032,
"cds_end": null,
"cds_length": 2040,
"cds_start": 1002,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000864783.1",
"gene_hgnc_id": 4696,
"gene_symbol": "GUSB",
"hgvs_c": "c.1002G>T",
"hgvs_p": "p.Gln334His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534842.1",
"strand": false,
"transcript": "ENST00000864783.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 661,
"aa_ref": "Q",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2218,
"cdna_start": 1011,
"cds_end": null,
"cds_length": 1986,
"cds_start": 981,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000864792.1",
"gene_hgnc_id": 4696,
"gene_symbol": "GUSB",
"hgvs_c": "c.981G>T",
"hgvs_p": "p.Gln327His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534851.1",
"strand": false,
"transcript": "ENST00000864792.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 660,
"aa_ref": "Q",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2220,
"cdna_start": 975,
"cds_end": null,
"cds_length": 1983,
"cds_start": 945,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000864788.1",
"gene_hgnc_id": 4696,
"gene_symbol": "GUSB",
"hgvs_c": "c.945G>T",
"hgvs_p": "p.Gln315His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534847.1",
"strand": false,
"transcript": "ENST00000864788.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 658,
"aa_ref": "Q",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2192,
"cdna_start": 948,
"cds_end": null,
"cds_length": 1977,
"cds_start": 918,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000912577.1",
"gene_hgnc_id": 4696,
"gene_symbol": "GUSB",
"hgvs_c": "c.918G>T",
"hgvs_p": "p.Gln306His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582636.1",
"strand": false,
"transcript": "ENST00000912577.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 650,
"aa_ref": "Q",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2204,
"cdna_start": 953,
"cds_end": null,
"cds_length": 1953,
"cds_start": 915,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000864780.1",
"gene_hgnc_id": 4696,
"gene_symbol": "GUSB",
"hgvs_c": "c.915G>T",
"hgvs_p": "p.Gln305His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534839.1",
"strand": false,
"transcript": "ENST00000864780.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 640,
"aa_ref": "Q",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2183,
"cdna_start": 965,
"cds_end": null,
"cds_length": 1923,
"cds_start": 918,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000864778.1",
"gene_hgnc_id": 4696,
"gene_symbol": "GUSB",
"hgvs_c": "c.918G>T",
"hgvs_p": "p.Gln306His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534837.1",
"strand": false,
"transcript": "ENST00000864778.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 634,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2129,
"cdna_start": 897,
"cds_end": null,
"cds_length": 1905,
"cds_start": 867,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000864798.1",
"gene_hgnc_id": 4696,
"gene_symbol": "GUSB",
"hgvs_c": "c.867G>T",
"hgvs_p": "p.Gln289His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534857.1",
"strand": false,
"transcript": "ENST00000864798.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 628,
"aa_ref": "Q",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2121,
"cdna_start": 881,
"cds_end": null,
"cds_length": 1887,
"cds_start": 849,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000864790.1",
"gene_hgnc_id": 4696,
"gene_symbol": "GUSB",
"hgvs_c": "c.849G>T",
"hgvs_p": "p.Gln283His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534849.1",
"strand": false,
"transcript": "ENST00000864790.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 625,
"aa_ref": "Q",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2117,
"cdna_start": 870,
"cds_end": null,
"cds_length": 1878,
"cds_start": 840,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000864786.1",
"gene_hgnc_id": 4696,
"gene_symbol": "GUSB",
"hgvs_c": "c.840G>T",
"hgvs_p": "p.Gln280His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534845.1",
"strand": false,
"transcript": "ENST00000864786.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 612,
"aa_ref": "Q",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2080,
"cdna_start": 950,
"cds_end": null,
"cds_length": 1839,
"cds_start": 918,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000864785.1",
"gene_hgnc_id": 4696,
"gene_symbol": "GUSB",
"hgvs_c": "c.918G>T",
"hgvs_p": "p.Gln306His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534844.1",
"strand": false,
"transcript": "ENST00000864785.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2027,
"cdna_start": 953,
"cds_end": null,
"cds_length": 1779,
"cds_start": 918,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000864781.1",
"gene_hgnc_id": 4696,
"gene_symbol": "GUSB",
"hgvs_c": "c.918G>T",
"hgvs_p": "p.Gln306His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534840.1",
"strand": false,
"transcript": "ENST00000864781.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 568,
"aa_ref": "Q",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1933,
"cdna_start": 699,
"cds_end": null,
"cds_length": 1707,
"cds_start": 669,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000864796.1",
"gene_hgnc_id": 4696,
"gene_symbol": "GUSB",
"hgvs_c": "c.669G>T",
"hgvs_p": "p.Gln223His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534855.1",
"strand": false,
"transcript": "ENST00000864796.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 550,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1882,
"cdna_start": 645,
"cds_end": null,
"cds_length": 1653,
"cds_start": 615,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000864793.1",
"gene_hgnc_id": 4696,
"gene_symbol": "GUSB",
"hgvs_c": "c.615G>T",
"hgvs_p": "p.Gln205His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534852.1",
"strand": false,
"transcript": "ENST00000864793.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 505,
"aa_ref": "Q",
"aa_start": 160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1761,
"cdna_start": 510,
"cds_end": null,
"cds_length": 1518,
"cds_start": 480,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001284290.2",
"gene_hgnc_id": 4696,
"gene_symbol": "GUSB",
"hgvs_c": "c.480G>T",
"hgvs_p": "p.Gln160His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001271219.1",
"strand": false,
"transcript": "NM_001284290.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 505,
"aa_ref": "Q",
"aa_start": 160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1742,
"cdna_start": 508,
"cds_end": null,
"cds_length": 1518,
"cds_start": 480,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000421103.5",
"gene_hgnc_id": 4696,
"gene_symbol": "GUSB",
"hgvs_c": "c.480G>T",
"hgvs_p": "p.Gln160His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391390.1",
"strand": false,
"transcript": "ENST00000421103.5",
"transcript_support_level": 2
},
{
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"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2014,
"cdna_start": 763,
"cds_end": null,
"cds_length": 1386,
"cds_start": 348,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001293104.2",
"gene_hgnc_id": 4696,
"gene_symbol": "GUSB",
"hgvs_c": "c.348G>T",
"hgvs_p": "p.Gln116His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001280033.1",
"strand": false,
"transcript": "NM_001293104.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 432,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1871,
"cdna_start": 620,
"cds_end": null,
"cds_length": 1299,
"cds_start": 261,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001293105.2",
"gene_hgnc_id": 4696,
"gene_symbol": "GUSB",
"hgvs_c": "c.261G>T",
"hgvs_p": "p.Gln87His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001280034.1",
"strand": false,
"transcript": "NM_001293105.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 484,
"aa_ref": "Q",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1787,
"cdna_start": 536,
"cds_end": null,
"cds_length": 1455,
"cds_start": 417,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047420286.1",
"gene_hgnc_id": 4696,
"gene_symbol": "GUSB",
"hgvs_c": "c.417G>T",
"hgvs_p": "p.Gln139His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276242.1",
"strand": false,
"transcript": "XM_047420286.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 415,
"aa_ref": "Q",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1367,
"cdna_start": 948,
"cds_end": null,
"cds_length": 1248,
"cds_start": 918,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047420287.1",
"gene_hgnc_id": 4696,
"gene_symbol": "GUSB",
"hgvs_c": "c.918G>T",
"hgvs_p": "p.Gln306His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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