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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: 20-62193460-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=62193460&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MTG2",
"hgnc_id": 16239,
"hgvs_c": "c.40G>A",
"hgvs_p": "p.Val14Met",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001384347.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 12,
"alphamissense_prediction": null,
"alphamissense_score": 0.0963,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.74,
"chr": "20",
"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": 0.03632953763008118,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 406,
"aa_ref": "V",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3747,
"cdna_start": 75,
"cds_end": null,
"cds_length": 1221,
"cds_start": 40,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_015666.4",
"gene_hgnc_id": 16239,
"gene_symbol": "MTG2",
"hgvs_c": "c.40G>A",
"hgvs_p": "p.Val14Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000370823.8",
"protein_coding": true,
"protein_id": "NP_056481.1",
"strand": true,
"transcript": "NM_015666.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 406,
"aa_ref": "V",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3747,
"cdna_start": 75,
"cds_end": null,
"cds_length": 1221,
"cds_start": 40,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000370823.8",
"gene_hgnc_id": 16239,
"gene_symbol": "MTG2",
"hgvs_c": "c.40G>A",
"hgvs_p": "p.Val14Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015666.4",
"protein_coding": true,
"protein_id": "ENSP00000359859.3",
"strand": true,
"transcript": "ENST00000370823.8",
"transcript_support_level": 5
},
{
"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": 2814,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000467101.5",
"gene_hgnc_id": 16239,
"gene_symbol": "MTG2",
"hgvs_c": "n.40G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435214.1",
"strand": true,
"transcript": "ENST00000467101.5",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 424,
"aa_ref": "V",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3801,
"cdna_start": 75,
"cds_end": null,
"cds_length": 1275,
"cds_start": 40,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001384347.1",
"gene_hgnc_id": 16239,
"gene_symbol": "MTG2",
"hgvs_c": "c.40G>A",
"hgvs_p": "p.Val14Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371276.1",
"strand": true,
"transcript": "NM_001384347.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 424,
"aa_ref": "V",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2822,
"cdna_start": 70,
"cds_end": null,
"cds_length": 1275,
"cds_start": 40,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000948274.1",
"gene_hgnc_id": 16239,
"gene_symbol": "MTG2",
"hgvs_c": "c.40G>A",
"hgvs_p": "p.Val14Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618333.1",
"strand": true,
"transcript": "ENST00000948274.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 406,
"aa_ref": "V",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3040,
"cdna_start": 169,
"cds_end": null,
"cds_length": 1221,
"cds_start": 40,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000881344.1",
"gene_hgnc_id": 16239,
"gene_symbol": "MTG2",
"hgvs_c": "c.40G>A",
"hgvs_p": "p.Val14Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551403.1",
"strand": true,
"transcript": "ENST00000881344.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 406,
"aa_ref": "V",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3026,
"cdna_start": 170,
"cds_end": null,
"cds_length": 1221,
"cds_start": 40,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000881345.1",
"gene_hgnc_id": 16239,
"gene_symbol": "MTG2",
"hgvs_c": "c.40G>A",
"hgvs_p": "p.Val14Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551404.1",
"strand": true,
"transcript": "ENST00000881345.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 406,
"aa_ref": "V",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2827,
"cdna_start": 135,
"cds_end": null,
"cds_length": 1221,
"cds_start": 40,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000881346.1",
"gene_hgnc_id": 16239,
"gene_symbol": "MTG2",
"hgvs_c": "c.40G>A",
"hgvs_p": "p.Val14Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551405.1",
"strand": true,
"transcript": "ENST00000881346.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 406,
"aa_ref": "V",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2744,
"cdna_start": 205,
"cds_end": null,
"cds_length": 1221,
"cds_start": 40,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000881347.1",
"gene_hgnc_id": 16239,
"gene_symbol": "MTG2",
"hgvs_c": "c.40G>A",
"hgvs_p": "p.Val14Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551406.1",
"strand": true,
"transcript": "ENST00000881347.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 406,
"aa_ref": "V",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1530,
"cdna_start": 255,
"cds_end": null,
"cds_length": 1221,
"cds_start": 40,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000881348.1",
"gene_hgnc_id": 16239,
"gene_symbol": "MTG2",
"hgvs_c": "c.40G>A",
"hgvs_p": "p.Val14Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551407.1",
"strand": true,
"transcript": "ENST00000881348.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 406,
"aa_ref": "V",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1425,
"cdna_start": 153,
"cds_end": null,
"cds_length": 1221,
"cds_start": 40,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000881349.1",
"gene_hgnc_id": 16239,
"gene_symbol": "MTG2",
"hgvs_c": "c.40G>A",
"hgvs_p": "p.Val14Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551408.1",
"strand": true,
"transcript": "ENST00000881349.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 406,
"aa_ref": "V",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2836,
"cdna_start": 129,
"cds_end": null,
"cds_length": 1221,
"cds_start": 40,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000931516.1",
"gene_hgnc_id": 16239,
"gene_symbol": "MTG2",
"hgvs_c": "c.40G>A",
"hgvs_p": "p.Val14Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601575.1",
"strand": true,
"transcript": "ENST00000931516.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 406,
"aa_ref": "V",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1478,
"cdna_start": 205,
"cds_end": null,
"cds_length": 1221,
"cds_start": 40,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000931517.1",
"gene_hgnc_id": 16239,
"gene_symbol": "MTG2",
"hgvs_c": "c.40G>A",
"hgvs_p": "p.Val14Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601576.1",
"strand": true,
"transcript": "ENST00000931517.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 406,
"aa_ref": "V",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1496,
"cdna_start": 224,
"cds_end": null,
"cds_length": 1221,
"cds_start": 40,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000948275.1",
"gene_hgnc_id": 16239,
"gene_symbol": "MTG2",
"hgvs_c": "c.40G>A",
"hgvs_p": "p.Val14Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618334.1",
"strand": true,
"transcript": "ENST00000948275.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 406,
"aa_ref": "V",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3586,
"cdna_start": 2310,
"cds_end": null,
"cds_length": 1221,
"cds_start": 40,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000948276.1",
"gene_hgnc_id": 16239,
"gene_symbol": "MTG2",
"hgvs_c": "c.40G>A",
"hgvs_p": "p.Val14Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618335.1",
"strand": true,
"transcript": "ENST00000948276.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 327,
"aa_ref": "V",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1346,
"cdna_start": 75,
"cds_end": null,
"cds_length": 984,
"cds_start": 40,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001384348.1",
"gene_hgnc_id": 16239,
"gene_symbol": "MTG2",
"hgvs_c": "c.40G>A",
"hgvs_p": "p.Val14Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371277.1",
"strand": true,
"transcript": "NM_001384348.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 232,
"aa_ref": "V",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 727,
"cdna_start": 68,
"cds_end": null,
"cds_length": 699,
"cds_start": 40,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000448254.1",
"gene_hgnc_id": 16239,
"gene_symbol": "MTG2",
"hgvs_c": "c.40G>A",
"hgvs_p": "p.Val14Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414693.1",
"strand": true,
"transcript": "ENST00000448254.1",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 434,
"aa_ref": "V",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7384,
"cdna_start": 3952,
"cds_end": null,
"cds_length": 1305,
"cds_start": 124,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_017027805.2",
"gene_hgnc_id": 16239,
"gene_symbol": "MTG2",
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016883294.1",
"strand": true,
"transcript": "XM_017027805.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 422,
"aa_ref": "V",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3825,
"cdna_start": 393,
"cds_end": null,
"cds_length": 1269,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_024451869.2",
"gene_hgnc_id": 16239,
"gene_symbol": "MTG2",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Val30Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024307637.1",
"strand": true,
"transcript": "XM_024451869.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 406,
"aa_ref": "V",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3523,
"cdna_start": 91,
"cds_end": null,
"cds_length": 1221,
"cds_start": 40,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047440103.1",
"gene_hgnc_id": 16239,
"gene_symbol": "MTG2",
"hgvs_c": "c.40G>A",
"hgvs_p": "p.Val14Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296059.1",
"strand": true,
"transcript": "XM_047440103.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 355,
"aa_ref": "V",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5223,
"cdna_start": 3952,
"cds_end": null,
"cds_length": 1068,
"cds_start": 124,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047440104.1",
"gene_hgnc_id": 16239,
"gene_symbol": "MTG2",
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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