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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: 2-1912023-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=1912023&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MYT1L",
"hgnc_id": 7623,
"hgvs_c": "c.1706G>A",
"hgvs_p": "p.Arg569Gln",
"inheritance_mode": "AD",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_001303052.2",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PP3,PP5_Very_Strong",
"acmg_score": 11,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9967,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.01,
"chr": "2",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": " autosomal dominant 39,Intellectual disability,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:4",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7910210490226746,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1186,
"aa_ref": "R",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7144,
"cdna_start": 2535,
"cds_end": null,
"cds_length": 3561,
"cds_start": 1706,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001303052.2",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.1706G>A",
"hgvs_p": "p.Arg569Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000647738.2",
"protein_coding": true,
"protein_id": "NP_001289981.1",
"strand": false,
"transcript": "NM_001303052.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1186,
"aa_ref": "R",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7144,
"cdna_start": 2535,
"cds_end": null,
"cds_length": 3561,
"cds_start": 1706,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000647738.2",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.1706G>A",
"hgvs_p": "p.Arg569Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001303052.2",
"protein_coding": true,
"protein_id": "ENSP00000497479.2",
"strand": false,
"transcript": "ENST00000647738.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1186,
"aa_ref": "R",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6951,
"cdna_start": 2593,
"cds_end": null,
"cds_length": 3561,
"cds_start": 1706,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000428368.7",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.1706G>A",
"hgvs_p": "p.Arg569Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396103.3",
"strand": false,
"transcript": "ENST00000428368.7",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1184,
"aa_ref": "R",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7227,
"cdna_start": 2629,
"cds_end": null,
"cds_length": 3555,
"cds_start": 1700,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000399161.8",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.1700G>A",
"hgvs_p": "p.Arg567Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382114.3",
"strand": false,
"transcript": "ENST00000399161.8",
"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": 2381,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000602387.6",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "n.1199G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000473409.2",
"strand": false,
"transcript": "ENST00000602387.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1207,
"aa_ref": "R",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7269,
"cdna_start": 2608,
"cds_end": null,
"cds_length": 3624,
"cds_start": 1706,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000644820.1",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.1706G>A",
"hgvs_p": "p.Arg569Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496210.1",
"strand": false,
"transcript": "ENST00000644820.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1186,
"aa_ref": "R",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7220,
"cdna_start": 2611,
"cds_end": null,
"cds_length": 3561,
"cds_start": 1706,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001329844.2",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.1706G>A",
"hgvs_p": "p.Arg569Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316773.1",
"strand": false,
"transcript": "NM_001329844.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1186,
"aa_ref": "R",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7010,
"cdna_start": 2401,
"cds_end": null,
"cds_length": 3561,
"cds_start": 1706,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001329845.1",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.1706G>A",
"hgvs_p": "p.Arg569Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316774.1",
"strand": false,
"transcript": "NM_001329845.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1186,
"aa_ref": "R",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6804,
"cdna_start": 2401,
"cds_end": null,
"cds_length": 3561,
"cds_start": 1706,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000647694.1",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.1706G>A",
"hgvs_p": "p.Arg569Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497722.1",
"strand": false,
"transcript": "ENST00000647694.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1186,
"aa_ref": "R",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7178,
"cdna_start": 2601,
"cds_end": null,
"cds_length": 3561,
"cds_start": 1700,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000650485.2",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.1700G>A",
"hgvs_p": "p.Arg567Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497068.1",
"strand": false,
"transcript": "ENST00000650485.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1186,
"aa_ref": "R",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7141,
"cdna_start": 2555,
"cds_end": null,
"cds_length": 3561,
"cds_start": 1706,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000892482.1",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.1706G>A",
"hgvs_p": "p.Arg569Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562541.1",
"strand": false,
"transcript": "ENST00000892482.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1185,
"aa_ref": "R",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7067,
"cdna_start": 2514,
"cds_end": null,
"cds_length": 3558,
"cds_start": 1703,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000650560.1",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.1703G>A",
"hgvs_p": "p.Arg568Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497816.1",
"strand": false,
"transcript": "ENST00000650560.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1184,
"aa_ref": "R",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7105,
"cdna_start": 2496,
"cds_end": null,
"cds_length": 3555,
"cds_start": 1700,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001329847.2",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.1700G>A",
"hgvs_p": "p.Arg567Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316776.1",
"strand": false,
"transcript": "NM_001329847.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1184,
"aa_ref": "R",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7187,
"cdna_start": 2578,
"cds_end": null,
"cds_length": 3555,
"cds_start": 1700,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001329848.1",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.1700G>A",
"hgvs_p": "p.Arg567Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316777.1",
"strand": false,
"transcript": "NM_001329848.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1184,
"aa_ref": "R",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7138,
"cdna_start": 2529,
"cds_end": null,
"cds_length": 3555,
"cds_start": 1700,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_015025.4",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.1700G>A",
"hgvs_p": "p.Arg567Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055840.2",
"strand": false,
"transcript": "NM_015025.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1184,
"aa_ref": "R",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6912,
"cdna_start": 2654,
"cds_end": null,
"cds_length": 3555,
"cds_start": 1700,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000648316.1",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.1700G>A",
"hgvs_p": "p.Arg567Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497870.1",
"strand": false,
"transcript": "ENST00000648316.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1184,
"aa_ref": "R",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7322,
"cdna_start": 2739,
"cds_end": null,
"cds_length": 3555,
"cds_start": 1700,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000648928.1",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.1700G>A",
"hgvs_p": "p.Arg567Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497017.1",
"strand": false,
"transcript": "ENST00000648928.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7009,
"cdna_start": 2601,
"cds_end": null,
"cds_length": 3555,
"cds_start": 1700,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000649207.1",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.1700G>A",
"hgvs_p": "p.Arg567Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496986.1",
"strand": false,
"transcript": "ENST00000649207.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1148,
"aa_ref": "R",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6376,
"cdna_start": 2529,
"cds_end": null,
"cds_length": 3447,
"cds_start": 1700,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001329849.3",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.1700G>A",
"hgvs_p": "p.Arg567Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316778.1",
"strand": false,
"transcript": "NM_001329849.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1148,
"aa_ref": "R",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6155,
"cdna_start": 2511,
"cds_end": null,
"cds_length": 3447,
"cds_start": 1700,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000648665.2",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.1700G>A",
"hgvs_p": "p.Arg567Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497115.1",
"strand": false,
"transcript": "ENST00000648665.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1146,
"aa_ref": "R",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6337,
"cdna_start": 2496,
"cds_end": null,
"cds_length": 3441,
"cds_start": 1700,
"consequences": [
"missense_variant"
],
"exon_count": 25,
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"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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"cds_end": null,
"cds_length": null,
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"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
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"feature": "ENST00000650081.1",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "n.*1143G>A",
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"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000497922.1",
"strand": false,
"transcript": "ENST00000650081.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs878853045",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
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"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"phenotype_combined": "not provided|Intellectual disability|Intellectual disability, autosomal dominant 39",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.806,
"pos": 1912023,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.42,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001303052.2"
}
]
}