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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: 18-21383555-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=21383555&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GREB1L",
"hgnc_id": 31042,
"hgvs_c": "c.37C>G",
"hgvs_p": "p.Arg13Gly",
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001410867.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "GREB1L-AS1",
"hgnc_id": 58310,
"hgvs_c": "n.320-2880G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000584611.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.8205,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.01,
"chr": "18",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.31548935174942017,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1923,
"aa_ref": "R",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9344,
"cdna_start": 318,
"cds_end": null,
"cds_length": 5772,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001142966.3",
"gene_hgnc_id": 31042,
"gene_symbol": "GREB1L",
"hgvs_c": "c.37C>G",
"hgvs_p": "p.Arg13Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000424526.7",
"protein_coding": true,
"protein_id": "NP_001136438.1",
"strand": true,
"transcript": "NM_001142966.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1923,
"aa_ref": "R",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9344,
"cdna_start": 318,
"cds_end": null,
"cds_length": 5772,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000424526.7",
"gene_hgnc_id": 31042,
"gene_symbol": "GREB1L",
"hgvs_c": "c.37C>G",
"hgvs_p": "p.Arg13Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001142966.3",
"protein_coding": true,
"protein_id": "ENSP00000412060.1",
"strand": true,
"transcript": "ENST00000424526.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2446,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000578368.5",
"gene_hgnc_id": 31042,
"gene_symbol": "GREB1L",
"hgvs_c": "n.142C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000578368.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3020,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000584446.5",
"gene_hgnc_id": 31042,
"gene_symbol": "GREB1L",
"hgvs_c": "n.308C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000584446.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1967,
"aa_ref": "R",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9003,
"cdna_start": 539,
"cds_end": null,
"cds_length": 5904,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000861016.1",
"gene_hgnc_id": 31042,
"gene_symbol": "GREB1L",
"hgvs_c": "c.37C>G",
"hgvs_p": "p.Arg13Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531075.1",
"strand": true,
"transcript": "ENST00000861016.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1966,
"aa_ref": "R",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9473,
"cdna_start": 318,
"cds_end": null,
"cds_length": 5901,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001410867.1",
"gene_hgnc_id": 31042,
"gene_symbol": "GREB1L",
"hgvs_c": "c.37C>G",
"hgvs_p": "p.Arg13Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397796.1",
"strand": true,
"transcript": "NM_001410867.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1966,
"aa_ref": "R",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6155,
"cdna_start": 291,
"cds_end": null,
"cds_length": 5901,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000579454.2",
"gene_hgnc_id": 31042,
"gene_symbol": "GREB1L",
"hgvs_c": "c.37C>G",
"hgvs_p": "p.Arg13Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463926.2",
"strand": true,
"transcript": "ENST00000579454.2",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1923,
"aa_ref": "R",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8749,
"cdna_start": 418,
"cds_end": null,
"cds_length": 5772,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000580732.6",
"gene_hgnc_id": 31042,
"gene_symbol": "GREB1L",
"hgvs_c": "c.37C>G",
"hgvs_p": "p.Arg13Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464162.1",
"strand": true,
"transcript": "ENST00000580732.6",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1899,
"aa_ref": "R",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8582,
"cdna_start": 321,
"cds_end": null,
"cds_length": 5700,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000942000.1",
"gene_hgnc_id": 31042,
"gene_symbol": "GREB1L",
"hgvs_c": "c.37C>G",
"hgvs_p": "p.Arg13Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612059.1",
"strand": true,
"transcript": "ENST00000942000.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1814,
"aa_ref": "R",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9017,
"cdna_start": 318,
"cds_end": null,
"cds_length": 5445,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001410868.1",
"gene_hgnc_id": 31042,
"gene_symbol": "GREB1L",
"hgvs_c": "c.37C>G",
"hgvs_p": "p.Arg13Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397797.1",
"strand": true,
"transcript": "NM_001410868.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1814,
"aa_ref": "R",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5600,
"cdna_start": 192,
"cds_end": null,
"cds_length": 5445,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000269218.10",
"gene_hgnc_id": 31042,
"gene_symbol": "GREB1L",
"hgvs_c": "c.37C>G",
"hgvs_p": "p.Arg13Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000269218.6",
"strand": true,
"transcript": "ENST00000269218.10",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1998,
"aa_ref": "R",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7472,
"cdna_start": 208,
"cds_end": null,
"cds_length": 5997,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017025989.2",
"gene_hgnc_id": 31042,
"gene_symbol": "GREB1L",
"hgvs_c": "c.37C>G",
"hgvs_p": "p.Arg13Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881478.1",
"strand": true,
"transcript": "XM_017025989.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 1998,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7582,
"cdna_start": 318,
"cds_end": null,
"cds_length": 5997,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047437809.1",
"gene_hgnc_id": 31042,
"gene_symbol": "GREB1L",
"hgvs_c": "c.37C>G",
"hgvs_p": "p.Arg13Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293765.1",
"strand": true,
"transcript": "XM_047437809.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1998,
"aa_ref": "R",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7660,
"cdna_start": 396,
"cds_end": null,
"cds_length": 5997,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047437810.1",
"gene_hgnc_id": 31042,
"gene_symbol": "GREB1L",
"hgvs_c": "c.37C>G",
"hgvs_p": "p.Arg13Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293766.1",
"strand": true,
"transcript": "XM_047437810.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 1997,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7579,
"cdna_start": 318,
"cds_end": null,
"cds_length": 5994,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017025990.2",
"gene_hgnc_id": 31042,
"gene_symbol": "GREB1L",
"hgvs_c": "c.37C>G",
"hgvs_p": "p.Arg13Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881479.1",
"strand": true,
"transcript": "XM_017025990.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 1970,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7498,
"cdna_start": 318,
"cds_end": null,
"cds_length": 5913,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017025991.2",
"gene_hgnc_id": 31042,
"gene_symbol": "GREB1L",
"hgvs_c": "c.37C>G",
"hgvs_p": "p.Arg13Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881480.1",
"strand": true,
"transcript": "XM_017025991.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1969,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7495,
"cdna_start": 318,
"cds_end": null,
"cds_length": 5910,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047437811.1",
"gene_hgnc_id": 31042,
"gene_symbol": "GREB1L",
"hgvs_c": "c.37C>G",
"hgvs_p": "p.Arg13Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293767.1",
"strand": true,
"transcript": "XM_047437811.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 1967,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9476,
"cdna_start": 318,
"cds_end": null,
"cds_length": 5904,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_006722547.4",
"gene_hgnc_id": 31042,
"gene_symbol": "GREB1L",
"hgvs_c": "c.37C>G",
"hgvs_p": "p.Arg13Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006722610.1",
"strand": true,
"transcript": "XM_006722547.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 1955,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7343,
"cdna_start": 208,
"cds_end": null,
"cds_length": 5868,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017025993.2",
"gene_hgnc_id": 31042,
"gene_symbol": "GREB1L",
"hgvs_c": "c.37C>G",
"hgvs_p": "p.Arg13Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881482.1",
"strand": true,
"transcript": "XM_017025993.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1955,
"aa_ref": "R",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7453,
"cdna_start": 318,
"cds_end": null,
"cds_length": 5868,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047437813.1",
"gene_hgnc_id": 31042,
"gene_symbol": "GREB1L",
"hgvs_c": "c.37C>G",
"hgvs_p": "p.Arg13Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293769.1",
"strand": true,
"transcript": "XM_047437813.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1955,
"aa_ref": "R",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7531,
"cdna_start": 396,
"cds_end": null,
"cds_length": 5868,
"cds_start": 37,
"consequences": [
"missense_variant"
],
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