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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: 9-130702231-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=130702231&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 130702231,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000372358.10",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC2",
"gene_hgnc_id": 17097,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Gly198Asp",
"transcript": "NM_014285.7",
"protein_id": "NP_055100.2",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 293,
"cds_start": 593,
"cds_end": null,
"cds_length": 882,
"cdna_start": 605,
"cdna_end": null,
"cdna_length": 2012,
"mane_select": "ENST00000372358.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC2",
"gene_hgnc_id": 17097,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Gly198Asp",
"transcript": "ENST00000372358.10",
"protein_id": "ENSP00000361433.5",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 293,
"cds_start": 593,
"cds_end": null,
"cds_length": 882,
"cdna_start": 605,
"cdna_end": null,
"cdna_length": 2012,
"mane_select": "NM_014285.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC2",
"gene_hgnc_id": 17097,
"hgvs_c": "n.1390G>A",
"hgvs_p": null,
"transcript": "ENST00000467138.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC2",
"gene_hgnc_id": 17097,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Gly198Asp",
"transcript": "ENST00000495699.3",
"protein_id": "ENSP00000418463.3",
"transcript_support_level": 3,
"aa_start": 198,
"aa_end": null,
"aa_length": 303,
"cds_start": 593,
"cds_end": null,
"cds_length": 912,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 1197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC2",
"gene_hgnc_id": 17097,
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Gly190Asp",
"transcript": "ENST00000372352.7",
"protein_id": "ENSP00000361427.3",
"transcript_support_level": 5,
"aa_start": 190,
"aa_end": null,
"aa_length": 285,
"cds_start": 569,
"cds_end": null,
"cds_length": 858,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 1957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC2",
"gene_hgnc_id": 17097,
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Gly172Asp",
"transcript": "NM_001282708.1",
"protein_id": "NP_001269637.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 267,
"cds_start": 515,
"cds_end": null,
"cds_length": 804,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 1956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC2",
"gene_hgnc_id": 17097,
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Gly172Asp",
"transcript": "ENST00000546165.6",
"protein_id": "ENSP00000444917.1",
"transcript_support_level": 2,
"aa_start": 172,
"aa_end": null,
"aa_length": 267,
"cds_start": 515,
"cds_end": null,
"cds_length": 804,
"cdna_start": 527,
"cdna_end": null,
"cdna_length": 1928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC2",
"gene_hgnc_id": 17097,
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Gly168Asp",
"transcript": "NM_001282709.1",
"protein_id": "NP_001269638.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 263,
"cds_start": 503,
"cds_end": null,
"cds_length": 792,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 1944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC2",
"gene_hgnc_id": 17097,
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Gly168Asp",
"transcript": "ENST00000372351.7",
"protein_id": "ENSP00000361426.3",
"transcript_support_level": 5,
"aa_start": 168,
"aa_end": null,
"aa_length": 263,
"cds_start": 503,
"cds_end": null,
"cds_length": 792,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 1885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC2",
"gene_hgnc_id": 17097,
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Gly172Asp",
"transcript": "ENST00000687051.1",
"protein_id": "ENSP00000509862.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 259,
"cds_start": 515,
"cds_end": null,
"cds_length": 780,
"cdna_start": 527,
"cdna_end": null,
"cdna_length": 1539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC2",
"gene_hgnc_id": 17097,
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Gly86Asp",
"transcript": "XM_005272176.3",
"protein_id": "XP_005272233.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 181,
"cds_start": 257,
"cds_end": null,
"cds_length": 546,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC2",
"gene_hgnc_id": 17097,
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Gly68Asp",
"transcript": "XM_006717023.3",
"protein_id": "XP_006717086.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 163,
"cds_start": 203,
"cds_end": null,
"cds_length": 492,
"cdna_start": 369,
"cdna_end": null,
"cdna_length": 1778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC2",
"gene_hgnc_id": 17097,
"hgvs_c": "n.544G>A",
"hgvs_p": null,
"transcript": "ENST00000372350.7",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC2",
"gene_hgnc_id": 17097,
"hgvs_c": "n.376G>A",
"hgvs_p": null,
"transcript": "ENST00000430138.7",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC2",
"gene_hgnc_id": 17097,
"hgvs_c": "n.*121G>A",
"hgvs_p": null,
"transcript": "ENST00000491115.7",
"protein_id": "ENSP00000509903.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC2",
"gene_hgnc_id": 17097,
"hgvs_c": "n.*378G>A",
"hgvs_p": null,
"transcript": "ENST00000685137.1",
"protein_id": "ENSP00000510555.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC2",
"gene_hgnc_id": 17097,
"hgvs_c": "n.*210G>A",
"hgvs_p": null,
"transcript": "ENST00000685277.1",
"protein_id": "ENSP00000508897.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC2",
"gene_hgnc_id": 17097,
"hgvs_c": "n.1085G>A",
"hgvs_p": null,
"transcript": "ENST00000686102.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC2",
"gene_hgnc_id": 17097,
"hgvs_c": "n.*1576G>A",
"hgvs_p": null,
"transcript": "ENST00000687420.1",
"protein_id": "ENSP00000510661.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 2972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC2",
"gene_hgnc_id": 17097,
"hgvs_c": "n.*1092G>A",
"hgvs_p": null,
"transcript": "ENST00000688258.1",
"protein_id": "ENSP00000509176.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC2",
"gene_hgnc_id": 17097,
"hgvs_c": "n.304G>A",
"hgvs_p": null,
"transcript": "ENST00000688364.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC2",
"gene_hgnc_id": 17097,
"hgvs_c": "n.*2110G>A",
"hgvs_p": null,
"transcript": "ENST00000688967.1",
"protein_id": "ENSP00000509217.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC2",
"gene_hgnc_id": 17097,
"hgvs_c": "n.2589G>A",
"hgvs_p": null,
"transcript": "ENST00000689662.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"revel_score": 0.64,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9969,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.45,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.662,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000372358.10",
"gene_symbol": "EXOSC2",
"hgnc_id": 17097,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Gly198Asp"
},
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000819196.1",
"gene_symbol": "ENSG00000306514",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.148-6687C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome,not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "not provided|Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}