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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: 1-11077633-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=11077633&ref=C&alt=T&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": "EXOSC10",
"hgnc_id": 9138,
"hgvs_c": "c.1768G>A",
"hgvs_p": "p.Val590Met",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001001998.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "EXOSC10-AS1",
"hgnc_id": 40456,
"hgvs_c": "n.774+16560C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000715292.1",
"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": 0.0795,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.5,
"chr": "1",
"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": 0.09899505972862244,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 885,
"aa_ref": "V",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2796,
"cdna_start": 1806,
"cds_end": null,
"cds_length": 2658,
"cds_start": 1768,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001001998.3",
"gene_hgnc_id": 9138,
"gene_symbol": "EXOSC10",
"hgvs_c": "c.1768G>A",
"hgvs_p": "p.Val590Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000376936.9",
"protein_coding": true,
"protein_id": "NP_001001998.1",
"strand": false,
"transcript": "NM_001001998.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 885,
"aa_ref": "V",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2796,
"cdna_start": 1806,
"cds_end": null,
"cds_length": 2658,
"cds_start": 1768,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000376936.9",
"gene_hgnc_id": 9138,
"gene_symbol": "EXOSC10",
"hgvs_c": "c.1768G>A",
"hgvs_p": "p.Val590Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001001998.3",
"protein_coding": true,
"protein_id": "ENSP00000366135.4",
"strand": false,
"transcript": "ENST00000376936.9",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 860,
"aa_ref": "V",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2721,
"cdna_start": 1806,
"cds_end": null,
"cds_length": 2583,
"cds_start": 1768,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000304457.11",
"gene_hgnc_id": 9138,
"gene_symbol": "EXOSC10",
"hgvs_c": "c.1768G>A",
"hgvs_p": "p.Val590Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000307307.7",
"strand": false,
"transcript": "ENST00000304457.11",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 900,
"aa_ref": "V",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2840,
"cdna_start": 1805,
"cds_end": null,
"cds_length": 2703,
"cds_start": 1768,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000921096.1",
"gene_hgnc_id": 9138,
"gene_symbol": "EXOSC10",
"hgvs_c": "c.1768G>A",
"hgvs_p": "p.Val590Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591155.1",
"strand": false,
"transcript": "ENST00000921096.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 892,
"aa_ref": "V",
"aa_start": 597,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2796,
"cdna_start": 1804,
"cds_end": null,
"cds_length": 2679,
"cds_start": 1789,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000869360.1",
"gene_hgnc_id": 9138,
"gene_symbol": "EXOSC10",
"hgvs_c": "c.1789G>A",
"hgvs_p": "p.Val597Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539419.1",
"strand": false,
"transcript": "ENST00000869360.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 890,
"aa_ref": "V",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2820,
"cdna_start": 1810,
"cds_end": null,
"cds_length": 2673,
"cds_start": 1768,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000869358.1",
"gene_hgnc_id": 9138,
"gene_symbol": "EXOSC10",
"hgvs_c": "c.1768G>A",
"hgvs_p": "p.Val590Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539417.1",
"strand": false,
"transcript": "ENST00000869358.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 884,
"aa_ref": "V",
"aa_start": 589,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2794,
"cdna_start": 1803,
"cds_end": null,
"cds_length": 2655,
"cds_start": 1765,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000921094.1",
"gene_hgnc_id": 9138,
"gene_symbol": "EXOSC10",
"hgvs_c": "c.1765G>A",
"hgvs_p": "p.Val589Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591153.1",
"strand": false,
"transcript": "ENST00000921094.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 884,
"aa_ref": "V",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2787,
"cdna_start": 1798,
"cds_end": null,
"cds_length": 2655,
"cds_start": 1768,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000921097.1",
"gene_hgnc_id": 9138,
"gene_symbol": "EXOSC10",
"hgvs_c": "c.1768G>A",
"hgvs_p": "p.Val590Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591156.1",
"strand": false,
"transcript": "ENST00000921097.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 883,
"aa_ref": "V",
"aa_start": 588,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2774,
"cdna_start": 1782,
"cds_end": null,
"cds_length": 2652,
"cds_start": 1762,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000971056.1",
"gene_hgnc_id": 9138,
"gene_symbol": "EXOSC10",
"hgvs_c": "c.1762G>A",
"hgvs_p": "p.Val588Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641115.1",
"strand": false,
"transcript": "ENST00000971056.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 868,
"aa_ref": "V",
"aa_start": 573,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2727,
"cdna_start": 1737,
"cds_end": null,
"cds_length": 2607,
"cds_start": 1717,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000869359.1",
"gene_hgnc_id": 9138,
"gene_symbol": "EXOSC10",
"hgvs_c": "c.1717G>A",
"hgvs_p": "p.Val573Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539418.1",
"strand": false,
"transcript": "ENST00000869359.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 867,
"aa_ref": "V",
"aa_start": 597,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2717,
"cdna_start": 1809,
"cds_end": null,
"cds_length": 2604,
"cds_start": 1789,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000971057.1",
"gene_hgnc_id": 9138,
"gene_symbol": "EXOSC10",
"hgvs_c": "c.1789G>A",
"hgvs_p": "p.Val597Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641116.1",
"strand": false,
"transcript": "ENST00000971057.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 865,
"aa_ref": "V",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2765,
"cdna_start": 1835,
"cds_end": null,
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"consequences": [
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],
"exon_count": 24,
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"feature": "ENST00000921093.1",
"gene_hgnc_id": 9138,
"gene_symbol": "EXOSC10",
"hgvs_c": "c.1768G>A",
"hgvs_p": "p.Val590Met",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000591152.1",
"strand": false,
"transcript": "ENST00000921093.1",
"transcript_support_level": null
},
{
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"aa_ref": "V",
"aa_start": 570,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2710,
"cdna_start": 1723,
"cds_end": null,
"cds_length": 2598,
"cds_start": 1708,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000971059.1",
"gene_hgnc_id": 9138,
"gene_symbol": "EXOSC10",
"hgvs_c": "c.1708G>A",
"hgvs_p": "p.Val570Met",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641118.1",
"strand": false,
"transcript": "ENST00000971059.1",
"transcript_support_level": null
},
{
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"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 1806,
"cds_end": null,
"cds_length": 2583,
"cds_start": 1768,
"consequences": [
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],
"exon_count": 24,
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"exon_rank_end": null,
"feature": "NM_002685.4",
"gene_hgnc_id": 9138,
"gene_symbol": "EXOSC10",
"hgvs_c": "c.1768G>A",
"hgvs_p": "p.Val590Met",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_002676.1",
"strand": false,
"transcript": "NM_002685.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 857,
"aa_ref": "V",
"aa_start": 562,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2712,
"cdna_start": 1722,
"cds_end": null,
"cds_length": 2574,
"cds_start": 1684,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000921095.1",
"gene_hgnc_id": 9138,
"gene_symbol": "EXOSC10",
"hgvs_c": "c.1684G>A",
"hgvs_p": "p.Val562Met",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591154.1",
"strand": false,
"transcript": "ENST00000921095.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 850,
"aa_ref": "V",
"aa_start": 555,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2654,
"cdna_start": 1672,
"cds_end": null,
"cds_length": 2553,
"cds_start": 1663,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000921099.1",
"gene_hgnc_id": 9138,
"gene_symbol": "EXOSC10",
"hgvs_c": "c.1663G>A",
"hgvs_p": "p.Val555Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591158.1",
"strand": false,
"transcript": "ENST00000921099.1",
"transcript_support_level": null
},
{
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"aa_ref": "V",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1785,
"cds_end": null,
"cds_length": 2472,
"cds_start": 1768,
"consequences": [
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],
"exon_count": 23,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000921098.1",
"gene_hgnc_id": 9138,
"gene_symbol": "EXOSC10",
"hgvs_c": "c.1768G>A",
"hgvs_p": "p.Val590Met",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000591157.1",
"strand": false,
"transcript": "ENST00000921098.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_ref": "V",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2811,
"cdna_start": 1806,
"cds_end": null,
"cds_length": 2673,
"cds_start": 1768,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_005263475.3",
"gene_hgnc_id": 9138,
"gene_symbol": "EXOSC10",
"hgvs_c": "c.1768G>A",
"hgvs_p": "p.Val590Met",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005263532.2",
"strand": false,
"transcript": "XM_005263475.3",
"transcript_support_level": null
},
{
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"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1630,
"cdna_start": 625,
"cds_end": null,
"cds_length": 1425,
"cds_start": 520,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047422661.1",
"gene_hgnc_id": 9138,
"gene_symbol": "EXOSC10",
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Val174Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278617.1",
"strand": false,
"transcript": "XM_047422661.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 458,
"aa_ref": "V",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1618,
"cdna_start": 613,
"cds_end": null,
"cds_length": 1377,
"cds_start": 472,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047422663.1",
"gene_hgnc_id": 9138,
"gene_symbol": "EXOSC10",
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Val158Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278619.1",
"strand": false,
"transcript": "XM_047422663.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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}