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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: 16-8847761-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=8847761&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PMM2",
"hgnc_id": 9115,
"hgvs_c": "c.677C>T",
"hgvs_p": "p.Thr226Ile",
"inheritance_mode": "AR",
"pathogenic_score": 13,
"score": 13,
"transcript": "NM_000303.3",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000260350",
"hgnc_id": 58482,
"hgvs_c": "n.319G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 8,
"score": 8,
"transcript": "ENST00000567942.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong,PP5_Moderate",
"acmg_score": 13,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.4679,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.52,
"chr": "16",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "PMM2-congenital disorder of glycosylation",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9595221281051636,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 246,
"aa_ref": "T",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2285,
"cdna_start": 721,
"cds_end": null,
"cds_length": 741,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_000303.3",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "c.677C>T",
"hgvs_p": "p.Thr226Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000268261.9",
"protein_coding": true,
"protein_id": "NP_000294.1",
"strand": true,
"transcript": "NM_000303.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 246,
"aa_ref": "T",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2285,
"cdna_start": 721,
"cds_end": null,
"cds_length": 741,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000268261.9",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "c.677C>T",
"hgvs_p": "p.Thr226Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000303.3",
"protein_coding": true,
"protein_id": "ENSP00000268261.4",
"strand": true,
"transcript": "ENST00000268261.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 793,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000565221.5",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "n.*295C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000457932.1",
"strand": true,
"transcript": "ENST00000565221.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1557,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000566540.5",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "n.*299C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000454284.1",
"strand": true,
"transcript": "ENST00000566540.5",
"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": 5397,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000567697.2",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "n.3845C>T",
"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": "ENST00000567697.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 793,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000565221.5",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "n.*295C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000457932.1",
"strand": true,
"transcript": "ENST00000565221.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1557,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000566540.5",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "n.*299C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000454284.1",
"strand": true,
"transcript": "ENST00000566540.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 260,
"aa_ref": "T",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2323,
"cdna_start": 760,
"cds_end": null,
"cds_length": 783,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000966170.1",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "c.719C>T",
"hgvs_p": "p.Thr240Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636229.1",
"strand": true,
"transcript": "ENST00000966170.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 245,
"aa_ref": "T",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2299,
"cdna_start": 735,
"cds_end": null,
"cds_length": 738,
"cds_start": 674,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000932322.1",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "c.674C>T",
"hgvs_p": "p.Thr225Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602381.1",
"strand": true,
"transcript": "ENST00000932322.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 236,
"aa_ref": "T",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2247,
"cdna_start": 683,
"cds_end": null,
"cds_length": 711,
"cds_start": 647,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000932323.1",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "c.647C>T",
"hgvs_p": "p.Thr216Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602382.1",
"strand": true,
"transcript": "ENST00000932323.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 231,
"aa_ref": "T",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 999,
"cdna_start": 663,
"cds_end": null,
"cds_length": 696,
"cds_start": 632,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000859787.1",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "c.632C>T",
"hgvs_p": "p.Thr211Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529846.1",
"strand": true,
"transcript": "ENST00000859787.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 228,
"aa_ref": "T",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2268,
"cdna_start": 705,
"cds_end": null,
"cds_length": 687,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000932321.1",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "c.623C>T",
"hgvs_p": "p.Thr208Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602380.1",
"strand": true,
"transcript": "ENST00000932321.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 223,
"aa_ref": "T",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2222,
"cdna_start": 652,
"cds_end": null,
"cds_length": 672,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000859785.1",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Thr203Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529844.1",
"strand": true,
"transcript": "ENST00000859785.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 219,
"aa_ref": "T",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 907,
"cdna_start": 800,
"cds_end": null,
"cds_length": 660,
"cds_start": 596,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000566983.5",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "c.596C>T",
"hgvs_p": "p.Thr199Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457956.1",
"strand": true,
"transcript": "ENST00000566983.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 182,
"aa_ref": "T",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 852,
"cdna_start": 516,
"cds_end": null,
"cds_length": 549,
"cds_start": 485,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000859788.1",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Thr162Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529847.1",
"strand": true,
"transcript": "ENST00000859788.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 155,
"aa_ref": "T",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 698,
"cdna_start": 420,
"cds_end": null,
"cds_length": 468,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000569958.5",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Thr135Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456302.1",
"strand": true,
"transcript": "ENST00000569958.5",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 131,
"aa_ref": "T",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1918,
"cdna_start": 355,
"cds_end": null,
"cds_length": 396,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000859786.1",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Thr111Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529845.1",
"strand": true,
"transcript": "ENST00000859786.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 163,
"aa_ref": "T",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2095,
"cdna_start": 531,
"cds_end": null,
"cds_length": 492,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047434215.1",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Thr143Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290171.1",
"strand": true,
"transcript": "XM_047434215.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 569,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000562025.1",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "n.211C>T",
"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": "ENST00000562025.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 931,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000562318.5",
"gene_hgnc_id": 9115,
"gene_symbol": "PMM2",
"hgvs_c": "n.*399C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000454395.1",
"strand": true,
"transcript": "ENST00000562318.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
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