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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: 6-130055205-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=130055205&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "L3MBTL3",
"hgnc_id": 23035,
"hgvs_c": "c.617C>T",
"hgvs_p": "p.Ser206Leu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_032438.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 23,
"alphamissense_prediction": null,
"alphamissense_score": 0.1733,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.27,
"chr": "6",
"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": 0.16655483841896057,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 780,
"aa_ref": "S",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4206,
"cdna_start": 795,
"cds_end": null,
"cds_length": 2343,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_032438.4",
"gene_hgnc_id": 23035,
"gene_symbol": "L3MBTL3",
"hgvs_c": "c.617C>T",
"hgvs_p": "p.Ser206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000361794.7",
"protein_coding": true,
"protein_id": "NP_115814.1",
"strand": true,
"transcript": "NM_032438.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 780,
"aa_ref": "S",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4206,
"cdna_start": 795,
"cds_end": null,
"cds_length": 2343,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000361794.7",
"gene_hgnc_id": 23035,
"gene_symbol": "L3MBTL3",
"hgvs_c": "c.617C>T",
"hgvs_p": "p.Ser206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032438.4",
"protein_coding": true,
"protein_id": "ENSP00000354526.2",
"strand": true,
"transcript": "ENST00000361794.7",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 755,
"aa_ref": "S",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3165,
"cdna_start": 712,
"cds_end": null,
"cds_length": 2268,
"cds_start": 542,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000533560.5",
"gene_hgnc_id": 23035,
"gene_symbol": "L3MBTL3",
"hgvs_c": "c.542C>T",
"hgvs_p": "p.Ser181Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437185.1",
"strand": true,
"transcript": "ENST00000533560.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 815,
"aa_ref": "S",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3334,
"cdna_start": 872,
"cds_end": null,
"cds_length": 2448,
"cds_start": 722,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000858931.1",
"gene_hgnc_id": 23035,
"gene_symbol": "L3MBTL3",
"hgvs_c": "c.722C>T",
"hgvs_p": "p.Ser241Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528990.1",
"strand": true,
"transcript": "ENST00000858931.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 815,
"aa_ref": "S",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4837,
"cdna_start": 1427,
"cds_end": null,
"cds_length": 2448,
"cds_start": 722,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000966136.1",
"gene_hgnc_id": 23035,
"gene_symbol": "L3MBTL3",
"hgvs_c": "c.722C>T",
"hgvs_p": "p.Ser241Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636195.1",
"strand": true,
"transcript": "ENST00000966136.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 780,
"aa_ref": "S",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4245,
"cdna_start": 823,
"cds_end": null,
"cds_length": 2343,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000368136.3",
"gene_hgnc_id": 23035,
"gene_symbol": "L3MBTL3",
"hgvs_c": "c.617C>T",
"hgvs_p": "p.Ser206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357118.2",
"strand": true,
"transcript": "ENST00000368136.3",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 780,
"aa_ref": "S",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4320,
"cdna_start": 909,
"cds_end": null,
"cds_length": 2343,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000858923.1",
"gene_hgnc_id": 23035,
"gene_symbol": "L3MBTL3",
"hgvs_c": "c.617C>T",
"hgvs_p": "p.Ser206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528982.1",
"strand": true,
"transcript": "ENST00000858923.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 780,
"aa_ref": "S",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4328,
"cdna_start": 915,
"cds_end": null,
"cds_length": 2343,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000858926.1",
"gene_hgnc_id": 23035,
"gene_symbol": "L3MBTL3",
"hgvs_c": "c.617C>T",
"hgvs_p": "p.Ser206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528985.1",
"strand": true,
"transcript": "ENST00000858926.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 780,
"aa_ref": "S",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4309,
"cdna_start": 898,
"cds_end": null,
"cds_length": 2343,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000858929.1",
"gene_hgnc_id": 23035,
"gene_symbol": "L3MBTL3",
"hgvs_c": "c.617C>T",
"hgvs_p": "p.Ser206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528988.1",
"strand": true,
"transcript": "ENST00000858929.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 780,
"aa_ref": "S",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3350,
"cdna_start": 888,
"cds_end": null,
"cds_length": 2343,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000858930.1",
"gene_hgnc_id": 23035,
"gene_symbol": "L3MBTL3",
"hgvs_c": "c.617C>T",
"hgvs_p": "p.Ser206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528989.1",
"strand": true,
"transcript": "ENST00000858930.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 780,
"aa_ref": "S",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3251,
"cdna_start": 797,
"cds_end": null,
"cds_length": 2343,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000858933.1",
"gene_hgnc_id": 23035,
"gene_symbol": "L3MBTL3",
"hgvs_c": "c.617C>T",
"hgvs_p": "p.Ser206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528992.1",
"strand": true,
"transcript": "ENST00000858933.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 780,
"aa_ref": "S",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3948,
"cdna_start": 1514,
"cds_end": null,
"cds_length": 2343,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000858934.1",
"gene_hgnc_id": 23035,
"gene_symbol": "L3MBTL3",
"hgvs_c": "c.617C>T",
"hgvs_p": "p.Ser206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528993.1",
"strand": true,
"transcript": "ENST00000858934.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 755,
"aa_ref": "S",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4131,
"cdna_start": 720,
"cds_end": null,
"cds_length": 2268,
"cds_start": 542,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001007102.4",
"gene_hgnc_id": 23035,
"gene_symbol": "L3MBTL3",
"hgvs_c": "c.542C>T",
"hgvs_p": "p.Ser181Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001007103.1",
"strand": true,
"transcript": "NM_001007102.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 755,
"aa_ref": "S",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4117,
"cdna_start": 706,
"cds_end": null,
"cds_length": 2268,
"cds_start": 542,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001346550.2",
"gene_hgnc_id": 23035,
"gene_symbol": "L3MBTL3",
"hgvs_c": "c.542C>T",
"hgvs_p": "p.Ser181Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333479.1",
"strand": true,
"transcript": "NM_001346550.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 755,
"aa_ref": "S",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4225,
"cdna_start": 814,
"cds_end": null,
"cds_length": 2268,
"cds_start": 542,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001346551.2",
"gene_hgnc_id": 23035,
"gene_symbol": "L3MBTL3",
"hgvs_c": "c.542C>T",
"hgvs_p": "p.Ser181Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333480.1",
"strand": true,
"transcript": "NM_001346551.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 755,
"aa_ref": "S",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4148,
"cdna_start": 735,
"cds_end": null,
"cds_length": 2268,
"cds_start": 542,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000368139.6",
"gene_hgnc_id": 23035,
"gene_symbol": "L3MBTL3",
"hgvs_c": "c.542C>T",
"hgvs_p": "p.Ser181Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357121.2",
"strand": true,
"transcript": "ENST00000368139.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 755,
"aa_ref": "S",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3243,
"cdna_start": 785,
"cds_end": null,
"cds_length": 2268,
"cds_start": 542,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000526019.5",
"gene_hgnc_id": 23035,
"gene_symbol": "L3MBTL3",
"hgvs_c": "c.542C>T",
"hgvs_p": "p.Ser181Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436706.1",
"strand": true,
"transcript": "ENST00000526019.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 755,
"aa_ref": "S",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4229,
"cdna_start": 818,
"cds_end": null,
"cds_length": 2268,
"cds_start": 542,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000858924.1",
"gene_hgnc_id": 23035,
"gene_symbol": "L3MBTL3",
"hgvs_c": "c.542C>T",
"hgvs_p": "p.Ser181Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528983.1",
"strand": true,
"transcript": "ENST00000858924.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 755,
"aa_ref": "S",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4194,
"cdna_start": 783,
"cds_end": null,
"cds_length": 2268,
"cds_start": 542,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000858925.1",
"gene_hgnc_id": 23035,
"gene_symbol": "L3MBTL3",
"hgvs_c": "c.542C>T",
"hgvs_p": "p.Ser181Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528984.1",
"strand": true,
"transcript": "ENST00000858925.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 755,
"aa_ref": "S",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4249,
"cdna_start": 839,
"cds_end": null,
"cds_length": 2268,
"cds_start": 542,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000858927.1",
"gene_hgnc_id": 23035,
"gene_symbol": "L3MBTL3",
"hgvs_c": "c.542C>T",
"hgvs_p": "p.Ser181Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528986.1",
"strand": true,
"transcript": "ENST00000858927.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 755,
"aa_ref": "S",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3280,
"cdna_start": 836,
"cds_end": null,
"cds_length": 2268,
"cds_start": 542,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000858928.1",
"gene_hgnc_id": 23035,
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