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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: 12-56155547-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56155547&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MYL6B",
"hgnc_id": 29823,
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Gly159Ser",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_002475.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MYL6B-AS1",
"hgnc_id": 55472,
"hgvs_c": "n.350+2087C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000548731.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 30,
"alphamissense_prediction": null,
"alphamissense_score": 0.4577,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.21,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8806907534599304,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 208,
"aa_ref": "G",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 828,
"cdna_start": 566,
"cds_end": null,
"cds_length": 627,
"cds_start": 475,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_002475.5",
"gene_hgnc_id": 29823,
"gene_symbol": "MYL6B",
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Gly159Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000695999.1",
"protein_coding": true,
"protein_id": "NP_002466.1",
"strand": true,
"transcript": "NM_002475.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 208,
"aa_ref": "G",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 828,
"cdna_start": 566,
"cds_end": null,
"cds_length": 627,
"cds_start": 475,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000695999.1",
"gene_hgnc_id": 29823,
"gene_symbol": "MYL6B",
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Gly159Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002475.5",
"protein_coding": true,
"protein_id": "ENSP00000512320.1",
"strand": true,
"transcript": "ENST00000695999.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 208,
"aa_ref": "G",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1034,
"cdna_start": 778,
"cds_end": null,
"cds_length": 627,
"cds_start": 475,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000550443.5",
"gene_hgnc_id": 29823,
"gene_symbol": "MYL6B",
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Gly159Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446643.1",
"strand": true,
"transcript": "ENST00000550443.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 217,
"aa_ref": "G",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 763,
"cdna_start": 502,
"cds_end": null,
"cds_length": 654,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000696001.1",
"gene_hgnc_id": 29823,
"gene_symbol": "MYL6B",
"hgvs_c": "c.502G>A",
"hgvs_p": "p.Gly168Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512322.1",
"strand": true,
"transcript": "ENST00000696001.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 211,
"aa_ref": "G",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 837,
"cdna_start": 566,
"cds_end": null,
"cds_length": 636,
"cds_start": 475,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000873598.1",
"gene_hgnc_id": 29823,
"gene_symbol": "MYL6B",
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Gly159Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543657.1",
"strand": true,
"transcript": "ENST00000873598.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 211,
"aa_ref": "G",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 856,
"cdna_start": 587,
"cds_end": null,
"cds_length": 636,
"cds_start": 475,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000912616.1",
"gene_hgnc_id": 29823,
"gene_symbol": "MYL6B",
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Gly159Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582675.1",
"strand": true,
"transcript": "ENST00000912616.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 211,
"aa_ref": "G",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 890,
"cdna_start": 627,
"cds_end": null,
"cds_length": 636,
"cds_start": 475,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000912622.1",
"gene_hgnc_id": 29823,
"gene_symbol": "MYL6B",
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Gly159Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582681.1",
"strand": true,
"transcript": "ENST00000912622.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 208,
"aa_ref": "G",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 892,
"cdna_start": 630,
"cds_end": null,
"cds_length": 627,
"cds_start": 475,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001199629.2",
"gene_hgnc_id": 29823,
"gene_symbol": "MYL6B",
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Gly159Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186558.1",
"strand": true,
"transcript": "NM_001199629.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 208,
"aa_ref": "G",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1305,
"cdna_start": 897,
"cds_end": null,
"cds_length": 627,
"cds_start": 475,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000553066.5",
"gene_hgnc_id": 29823,
"gene_symbol": "MYL6B",
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Gly159Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450385.1",
"strand": true,
"transcript": "ENST00000553066.5",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 208,
"aa_ref": "G",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1237,
"cdna_start": 829,
"cds_end": null,
"cds_length": 627,
"cds_start": 475,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000873595.1",
"gene_hgnc_id": 29823,
"gene_symbol": "MYL6B",
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Gly159Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543654.1",
"strand": true,
"transcript": "ENST00000873595.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 208,
"aa_ref": "G",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 886,
"cdna_start": 619,
"cds_end": null,
"cds_length": 627,
"cds_start": 475,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000873596.1",
"gene_hgnc_id": 29823,
"gene_symbol": "MYL6B",
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Gly159Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543655.1",
"strand": true,
"transcript": "ENST00000873596.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 208,
"aa_ref": "G",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 942,
"cdna_start": 685,
"cds_end": null,
"cds_length": 627,
"cds_start": 475,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000873597.1",
"gene_hgnc_id": 29823,
"gene_symbol": "MYL6B",
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Gly159Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543656.1",
"strand": true,
"transcript": "ENST00000873597.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 208,
"aa_ref": "G",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1608,
"cdna_start": 1348,
"cds_end": null,
"cds_length": 627,
"cds_start": 475,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000873599.1",
"gene_hgnc_id": 29823,
"gene_symbol": "MYL6B",
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Gly159Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543658.1",
"strand": true,
"transcript": "ENST00000873599.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 208,
"aa_ref": "G",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 848,
"cdna_start": 587,
"cds_end": null,
"cds_length": 627,
"cds_start": 475,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000912612.1",
"gene_hgnc_id": 29823,
"gene_symbol": "MYL6B",
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Gly159Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582671.1",
"strand": true,
"transcript": "ENST00000912612.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 208,
"aa_ref": "G",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 999,
"cdna_start": 584,
"cds_end": null,
"cds_length": 627,
"cds_start": 475,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000912615.1",
"gene_hgnc_id": 29823,
"gene_symbol": "MYL6B",
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Gly159Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582674.1",
"strand": true,
"transcript": "ENST00000912615.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 208,
"aa_ref": "G",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 955,
"cdna_start": 693,
"cds_end": null,
"cds_length": 627,
"cds_start": 475,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000912618.1",
"gene_hgnc_id": 29823,
"gene_symbol": "MYL6B",
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Gly159Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582677.1",
"strand": true,
"transcript": "ENST00000912618.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 208,
"aa_ref": "G",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1034,
"cdna_start": 630,
"cds_end": null,
"cds_length": 627,
"cds_start": 475,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000912619.1",
"gene_hgnc_id": 29823,
"gene_symbol": "MYL6B",
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Gly159Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582678.1",
"strand": true,
"transcript": "ENST00000912619.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 208,
"aa_ref": "G",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1367,
"cdna_start": 963,
"cds_end": null,
"cds_length": 627,
"cds_start": 475,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000912623.1",
"gene_hgnc_id": 29823,
"gene_symbol": "MYL6B",
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Gly159Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582682.1",
"strand": true,
"transcript": "ENST00000912623.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 208,
"aa_ref": "G",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1105,
"cdna_start": 841,
"cds_end": null,
"cds_length": 627,
"cds_start": 475,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000912624.1",
"gene_hgnc_id": 29823,
"gene_symbol": "MYL6B",
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Gly159Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582683.1",
"strand": true,
"transcript": "ENST00000912624.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 207,
"aa_ref": "G",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 887,
"cdna_start": 621,
"cds_end": null,
"cds_length": 624,
"cds_start": 475,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000912610.1",
"gene_hgnc_id": 29823,
"gene_symbol": "MYL6B",
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Gly159Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582669.1",
"strand": true,
"transcript": "ENST00000912610.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 207,
"aa_ref": "G",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 859,
"cdna_start": 592,
"cds_end": null,
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