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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: 4-153466405-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=153466405&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TMEM131L",
"hgnc_id": 29146,
"hgvs_c": "c.8G>T",
"hgvs_p": "p.Gly3Val",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001131007.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 220,
"alphamissense_prediction": null,
"alphamissense_score": 0.3055,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "4",
"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": 0.08407706022262573,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1610,
"aa_ref": "G",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5006,
"cdna_start": 46,
"cds_end": null,
"cds_length": 4833,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001131007.2",
"gene_hgnc_id": 29146,
"gene_symbol": "TMEM131L",
"hgvs_c": "c.8G>T",
"hgvs_p": "p.Gly3Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000409959.8",
"protein_coding": true,
"protein_id": "NP_001124479.1",
"strand": true,
"transcript": "NM_001131007.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1610,
"aa_ref": "G",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5006,
"cdna_start": 46,
"cds_end": null,
"cds_length": 4833,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000409959.8",
"gene_hgnc_id": 29146,
"gene_symbol": "TMEM131L",
"hgvs_c": "c.8G>T",
"hgvs_p": "p.Gly3Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001131007.2",
"protein_coding": true,
"protein_id": "ENSP00000386787.3",
"strand": true,
"transcript": "ENST00000409959.8",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1609,
"aa_ref": "G",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5003,
"cdna_start": 46,
"cds_end": null,
"cds_length": 4830,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_015196.4",
"gene_hgnc_id": 29146,
"gene_symbol": "TMEM131L",
"hgvs_c": "c.8G>T",
"hgvs_p": "p.Gly3Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056011.3",
"strand": true,
"transcript": "NM_015196.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1609,
"aa_ref": "G",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5017,
"cdna_start": 60,
"cds_end": null,
"cds_length": 4830,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000409663.7",
"gene_hgnc_id": 29146,
"gene_symbol": "TMEM131L",
"hgvs_c": "c.8G>T",
"hgvs_p": "p.Gly3Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386574.3",
"strand": true,
"transcript": "ENST00000409663.7",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1609,
"aa_ref": "G",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5957,
"cdna_start": 99,
"cds_end": null,
"cds_length": 4830,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000886543.1",
"gene_hgnc_id": 29146,
"gene_symbol": "TMEM131L",
"hgvs_c": "c.8G>T",
"hgvs_p": "p.Gly3Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556606.1",
"strand": true,
"transcript": "ENST00000886543.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1609,
"aa_ref": "G",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5919,
"cdna_start": 68,
"cds_end": null,
"cds_length": 4830,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000939904.1",
"gene_hgnc_id": 29146,
"gene_symbol": "TMEM131L",
"hgvs_c": "c.8G>T",
"hgvs_p": "p.Gly3Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609963.1",
"strand": true,
"transcript": "ENST00000939904.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1608,
"aa_ref": "G",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5008,
"cdna_start": 57,
"cds_end": null,
"cds_length": 4827,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000886548.1",
"gene_hgnc_id": 29146,
"gene_symbol": "TMEM131L",
"hgvs_c": "c.8G>T",
"hgvs_p": "p.Gly3Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556607.1",
"strand": true,
"transcript": "ENST00000886548.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1608,
"aa_ref": "G",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4975,
"cdna_start": 41,
"cds_end": null,
"cds_length": 4827,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000939912.1",
"gene_hgnc_id": 29146,
"gene_symbol": "TMEM131L",
"hgvs_c": "c.8G>T",
"hgvs_p": "p.Gly3Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609971.1",
"strand": true,
"transcript": "ENST00000939912.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1598,
"aa_ref": "G",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4885,
"cdna_start": 46,
"cds_end": null,
"cds_length": 4797,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000971912.1",
"gene_hgnc_id": 29146,
"gene_symbol": "TMEM131L",
"hgvs_c": "c.8G>T",
"hgvs_p": "p.Gly3Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641971.1",
"strand": true,
"transcript": "ENST00000971912.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1597,
"aa_ref": "G",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4988,
"cdna_start": 70,
"cds_end": null,
"cds_length": 4794,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000971910.1",
"gene_hgnc_id": 29146,
"gene_symbol": "TMEM131L",
"hgvs_c": "c.8G>T",
"hgvs_p": "p.Gly3Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641969.1",
"strand": true,
"transcript": "ENST00000971910.1",
"transcript_support_level": null
},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5861,
"cdna_start": 46,
"cds_end": null,
"cds_length": 4791,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000939905.1",
"gene_hgnc_id": 29146,
"gene_symbol": "TMEM131L",
"hgvs_c": "c.8G>T",
"hgvs_p": "p.Gly3Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609964.1",
"strand": true,
"transcript": "ENST00000939905.1",
"transcript_support_level": null
},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 5860,
"cdna_start": 46,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000971909.1",
"gene_hgnc_id": 29146,
"gene_symbol": "TMEM131L",
"hgvs_c": "c.8G>T",
"hgvs_p": "p.Gly3Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641968.1",
"strand": true,
"transcript": "ENST00000971909.1",
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},
{
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"cds_end": null,
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],
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"feature": "ENST00000939910.1",
"gene_hgnc_id": 29146,
"gene_symbol": "TMEM131L",
"hgvs_c": "c.8G>T",
"hgvs_p": "p.Gly3Val",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609969.1",
"strand": true,
"transcript": "ENST00000939910.1",
"transcript_support_level": null
},
{
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"aa_length": 1584,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4919,
"cdna_start": 44,
"cds_end": null,
"cds_length": 4755,
"cds_start": 8,
"consequences": [
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],
"exon_count": 34,
"exon_rank": 1,
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"feature": "ENST00000886549.1",
"gene_hgnc_id": 29146,
"gene_symbol": "TMEM131L",
"hgvs_c": "c.8G>T",
"hgvs_p": "p.Gly3Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556608.1",
"strand": true,
"transcript": "ENST00000886549.1",
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},
{
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"consequences": [
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],
"exon_count": 34,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000886550.1",
"gene_hgnc_id": 29146,
"gene_symbol": "TMEM131L",
"hgvs_c": "c.8G>T",
"hgvs_p": "p.Gly3Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556609.1",
"strand": true,
"transcript": "ENST00000886550.1",
"transcript_support_level": null
},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4911,
"cdna_start": 65,
"cds_end": null,
"cds_length": 4719,
"cds_start": 8,
"consequences": [
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],
"exon_count": 34,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000939907.1",
"gene_hgnc_id": 29146,
"gene_symbol": "TMEM131L",
"hgvs_c": "c.8G>T",
"hgvs_p": "p.Gly3Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609966.1",
"strand": true,
"transcript": "ENST00000939907.1",
"transcript_support_level": null
},
{
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"aa_length": 1542,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4714,
"cdna_start": 42,
"cds_end": null,
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"consequences": [
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],
"exon_count": 33,
"exon_rank": 1,
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"feature": "ENST00000886551.1",
"gene_hgnc_id": 29146,
"gene_symbol": "TMEM131L",
"hgvs_c": "c.8G>T",
"hgvs_p": "p.Gly3Val",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000556610.1",
"strand": true,
"transcript": "ENST00000886551.1",
"transcript_support_level": null
},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
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"cdna_start": 43,
"cds_end": null,
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"consequences": [
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],
"exon_count": 33,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000939911.1",
"gene_hgnc_id": 29146,
"gene_symbol": "TMEM131L",
"hgvs_c": "c.8G>T",
"hgvs_p": "p.Gly3Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609970.1",
"strand": true,
"transcript": "ENST00000939911.1",
"transcript_support_level": null
},
{
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"aa_ref": "G",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5678,
"cdna_start": 29,
"cds_end": null,
"cds_length": 4623,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000939906.1",
"gene_hgnc_id": 29146,
"gene_symbol": "TMEM131L",
"hgvs_c": "c.8G>T",
"hgvs_p": "p.Gly3Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609965.1",
"strand": true,
"transcript": "ENST00000939906.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1525,
"aa_ref": "G",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5672,
"cdna_start": 70,
"cds_end": null,
"cds_length": 4578,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000939903.1",
"gene_hgnc_id": 29146,
"gene_symbol": "TMEM131L",
"hgvs_c": "c.8G>T",
"hgvs_p": "p.Gly3Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609962.1",
"strand": true,
"transcript": "ENST00000939903.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1525,
"aa_ref": "G",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4763,
"cdna_start": 58,
"cds_end": null,
"cds_length": 4578,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000939909.1",
"gene_hgnc_id": 29146,
"gene_symbol": "TMEM131L",
"hgvs_c": "c.8G>T",
"hgvs_p": "p.Gly3Val",
"intron_rank": null,
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