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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: 4-158706351-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=158706351&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ETFDH",
"hgnc_id": 3483,
"hgvs_c": "c.1448C>T",
"hgvs_p": "p.Pro483Leu",
"inheritance_mode": "AR",
"pathogenic_score": 23,
"score": 23,
"transcript": "NM_004453.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PM2,PM5,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_score": 23,
"allele_count_reference_population": 56,
"alphamissense_prediction": null,
"alphamissense_score": 0.3412,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.53,
"chr": "4",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": " glutaric acidemia type II, late-onset,Acyl-CoA dehydrogenase deficiency,Glutaric acidemia iic,Glutaric acidemia type 2C,Multiple acyl-CoA dehydrogenase deficiency,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:7 LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9827117919921875,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 617,
"aa_ref": "P",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3111,
"cdna_start": 1609,
"cds_end": null,
"cds_length": 1854,
"cds_start": 1448,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_004453.4",
"gene_hgnc_id": 3483,
"gene_symbol": "ETFDH",
"hgvs_c": "c.1448C>T",
"hgvs_p": "p.Pro483Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000511912.6",
"protein_coding": true,
"protein_id": "NP_004444.2",
"strand": true,
"transcript": "NM_004453.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 617,
"aa_ref": "P",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3111,
"cdna_start": 1609,
"cds_end": null,
"cds_length": 1854,
"cds_start": 1448,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000511912.6",
"gene_hgnc_id": 3483,
"gene_symbol": "ETFDH",
"hgvs_c": "c.1448C>T",
"hgvs_p": "p.Pro483Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004453.4",
"protein_coding": true,
"protein_id": "ENSP00000426638.1",
"strand": true,
"transcript": "ENST00000511912.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 865,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000506422.1",
"gene_hgnc_id": 3483,
"gene_symbol": "ETFDH",
"hgvs_c": "n.418C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000506422.1",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 618,
"aa_ref": "P",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2227,
"cdna_start": 1639,
"cds_end": null,
"cds_length": 1857,
"cds_start": 1448,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000684622.1",
"gene_hgnc_id": 3483,
"gene_symbol": "ETFDH",
"hgvs_c": "c.1448C>T",
"hgvs_p": "p.Pro483Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507546.1",
"strand": true,
"transcript": "ENST00000684622.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 617,
"aa_ref": "P",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2436,
"cdna_start": 1734,
"cds_end": null,
"cds_length": 1854,
"cds_start": 1448,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000908056.1",
"gene_hgnc_id": 3483,
"gene_symbol": "ETFDH",
"hgvs_c": "c.1448C>T",
"hgvs_p": "p.Pro483Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578115.1",
"strand": true,
"transcript": "ENST00000908056.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 617,
"aa_ref": "P",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2241,
"cdna_start": 1697,
"cds_end": null,
"cds_length": 1854,
"cds_start": 1448,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000908057.1",
"gene_hgnc_id": 3483,
"gene_symbol": "ETFDH",
"hgvs_c": "c.1448C>T",
"hgvs_p": "p.Pro483Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578116.1",
"strand": true,
"transcript": "ENST00000908057.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 617,
"aa_ref": "P",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2286,
"cdna_start": 1738,
"cds_end": null,
"cds_length": 1854,
"cds_start": 1448,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000935955.1",
"gene_hgnc_id": 3483,
"gene_symbol": "ETFDH",
"hgvs_c": "c.1448C>T",
"hgvs_p": "p.Pro483Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606014.1",
"strand": true,
"transcript": "ENST00000935955.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 616,
"aa_ref": "P",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4385,
"cdna_start": 1751,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1448,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000953090.1",
"gene_hgnc_id": 3483,
"gene_symbol": "ETFDH",
"hgvs_c": "c.1448C>T",
"hgvs_p": "p.Pro483Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623149.1",
"strand": true,
"transcript": "ENST00000953090.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 600,
"aa_ref": "P",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4155,
"cdna_start": 1558,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1397,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000684505.1",
"gene_hgnc_id": 3483,
"gene_symbol": "ETFDH",
"hgvs_c": "c.1397C>T",
"hgvs_p": "p.Pro466Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508237.1",
"strand": true,
"transcript": "ENST00000684505.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 570,
"aa_ref": "P",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2970,
"cdna_start": 1468,
"cds_end": null,
"cds_length": 1713,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001281737.2",
"gene_hgnc_id": 3483,
"gene_symbol": "ETFDH",
"hgvs_c": "c.1307C>T",
"hgvs_p": "p.Pro436Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001268666.1",
"strand": true,
"transcript": "NM_001281737.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 570,
"aa_ref": "P",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1903,
"cdna_start": 1425,
"cds_end": null,
"cds_length": 1713,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000307738.5",
"gene_hgnc_id": 3483,
"gene_symbol": "ETFDH",
"hgvs_c": "c.1307C>T",
"hgvs_p": "p.Pro436Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000303552.5",
"strand": true,
"transcript": "ENST00000307738.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 570,
"aa_ref": "P",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4093,
"cdna_start": 1498,
"cds_end": null,
"cds_length": 1713,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000682456.1",
"gene_hgnc_id": 3483,
"gene_symbol": "ETFDH",
"hgvs_c": "c.1307C>T",
"hgvs_p": "p.Pro436Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508240.1",
"strand": true,
"transcript": "ENST00000682456.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 569,
"aa_ref": "P",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4090,
"cdna_start": 1495,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1304,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000683483.1",
"gene_hgnc_id": 3483,
"gene_symbol": "ETFDH",
"hgvs_c": "c.1304C>T",
"hgvs_p": "p.Pro435Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507719.1",
"strand": true,
"transcript": "ENST00000683483.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 556,
"aa_ref": "P",
"aa_start": 422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1952,
"cdna_start": 1360,
"cds_end": null,
"cds_length": 1671,
"cds_start": 1265,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001281738.1",
"gene_hgnc_id": 3483,
"gene_symbol": "ETFDH",
"hgvs_c": "c.1265C>T",
"hgvs_p": "p.Pro422Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001268667.1",
"strand": true,
"transcript": "NM_001281738.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 556,
"aa_ref": "P",
"aa_start": 422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4098,
"cdna_start": 1501,
"cds_end": null,
"cds_length": 1671,
"cds_start": 1265,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000683305.1",
"gene_hgnc_id": 3483,
"gene_symbol": "ETFDH",
"hgvs_c": "c.1265C>T",
"hgvs_p": "p.Pro422Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508043.1",
"strand": true,
"transcript": "ENST00000683305.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 556,
"aa_ref": "P",
"aa_start": 422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4425,
"cdna_start": 1828,
"cds_end": null,
"cds_length": 1671,
"cds_start": 1265,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000684036.1",
"gene_hgnc_id": 3483,
"gene_symbol": "ETFDH",
"hgvs_c": "c.1265C>T",
"hgvs_p": "p.Pro422Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507276.1",
"strand": true,
"transcript": "ENST00000684036.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 556,
"aa_ref": "P",
"aa_start": 422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4614,
"cdna_start": 2017,
"cds_end": null,
"cds_length": 1671,
"cds_start": 1265,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000684627.1",
"gene_hgnc_id": 3483,
"gene_symbol": "ETFDH",
"hgvs_c": "c.1265C>T",
"hgvs_p": "p.Pro422Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507471.1",
"strand": true,
"transcript": "ENST00000684627.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 543,
"aa_ref": "P",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2259,
"cdna_start": 1775,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1448,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000953091.1",
"gene_hgnc_id": 3483,
"gene_symbol": "ETFDH",
"hgvs_c": "c.1448C>T",
"hgvs_p": "p.Pro483Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623150.1",
"strand": true,
"transcript": "ENST00000953091.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 522,
"aa_ref": "P",
"aa_start": 388,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3949,
"cdna_start": 1354,
"cds_end": null,
"cds_length": 1569,
"cds_start": 1163,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000684641.1",
"gene_hgnc_id": 3483,
"gene_symbol": "ETFDH",
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Pro388Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507642.1",
"strand": true,
"transcript": "ENST00000684641.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 452,
"aa_ref": "P",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3824,
"cdna_start": 1227,
"cds_end": null,
"cds_length": 1359,
"cds_start": 953,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000683751.1",
"gene_hgnc_id": 3483,
"gene_symbol": "ETFDH",
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Pro318Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506944.1",
"strand": true,
"transcript": "ENST00000683751.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 226,
"aa_ref": "P",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3758,
"cdna_start": 1161,
"cds_end": null,
"cds_length": 681,
"cds_start": 275,
"consequences": [
"missense_variant"
],
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