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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: 2-222909140-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=222909140&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 222909140,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004457.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.368T>C",
"hgvs_p": "p.Ile123Thr",
"transcript": "NM_004457.5",
"protein_id": "NP_004448.2",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 720,
"cds_start": 368,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 5577,
"mane_select": "ENST00000357430.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004457.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.368T>C",
"hgvs_p": "p.Ile123Thr",
"transcript": "ENST00000357430.8",
"protein_id": "ENSP00000350012.3",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 720,
"cds_start": 368,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 5577,
"mane_select": "NM_004457.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357430.8"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.368T>C",
"hgvs_p": "p.Ile123Thr",
"transcript": "ENST00000903386.1",
"protein_id": "ENSP00000573445.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 725,
"cds_start": 368,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 2996,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903386.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.368T>C",
"hgvs_p": "p.Ile123Thr",
"transcript": "NM_001354158.2",
"protein_id": "NP_001341087.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 720,
"cds_start": 368,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 5518,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354158.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.368T>C",
"hgvs_p": "p.Ile123Thr",
"transcript": "NM_001354159.2",
"protein_id": "NP_001341088.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 720,
"cds_start": 368,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 5411,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354159.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.368T>C",
"hgvs_p": "p.Ile123Thr",
"transcript": "NM_203372.3",
"protein_id": "NP_976251.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 720,
"cds_start": 368,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 5470,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_203372.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.368T>C",
"hgvs_p": "p.Ile123Thr",
"transcript": "ENST00000392066.7",
"protein_id": "ENSP00000375918.3",
"transcript_support_level": 5,
"aa_start": 123,
"aa_end": null,
"aa_length": 720,
"cds_start": 368,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 3147,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392066.7"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.368T>C",
"hgvs_p": "p.Ile123Thr",
"transcript": "ENST00000679514.1",
"protein_id": "ENSP00000506361.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 720,
"cds_start": 368,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 5574,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679514.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.368T>C",
"hgvs_p": "p.Ile123Thr",
"transcript": "ENST00000679558.1",
"protein_id": "ENSP00000504907.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 720,
"cds_start": 368,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 5464,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679558.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.368T>C",
"hgvs_p": "p.Ile123Thr",
"transcript": "ENST00000680147.1",
"protein_id": "ENSP00000504861.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 720,
"cds_start": 368,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 750,
"cdna_end": null,
"cdna_length": 5500,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680147.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.368T>C",
"hgvs_p": "p.Ile123Thr",
"transcript": "ENST00000680251.1",
"protein_id": "ENSP00000505400.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 720,
"cds_start": 368,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 5433,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680251.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.368T>C",
"hgvs_p": "p.Ile123Thr",
"transcript": "ENST00000680395.1",
"protein_id": "ENSP00000505793.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 720,
"cds_start": 368,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 789,
"cdna_end": null,
"cdna_length": 5539,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680395.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.368T>C",
"hgvs_p": "p.Ile123Thr",
"transcript": "ENST00000680684.1",
"protein_id": "ENSP00000506468.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 720,
"cds_start": 368,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 5341,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680684.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.368T>C",
"hgvs_p": "p.Ile123Thr",
"transcript": "ENST00000680921.1",
"protein_id": "ENSP00000505940.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 720,
"cds_start": 368,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 5544,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680921.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.368T>C",
"hgvs_p": "p.Ile123Thr",
"transcript": "ENST00000681383.1",
"protein_id": "ENSP00000505654.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 720,
"cds_start": 368,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 787,
"cdna_end": null,
"cdna_length": 5537,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681383.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.368T>C",
"hgvs_p": "p.Ile123Thr",
"transcript": "ENST00000681697.1",
"protein_id": "ENSP00000505856.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 720,
"cds_start": 368,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 5524,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681697.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.368T>C",
"hgvs_p": "p.Ile123Thr",
"transcript": "ENST00000903381.1",
"protein_id": "ENSP00000573440.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 720,
"cds_start": 368,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 4114,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903381.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.368T>C",
"hgvs_p": "p.Ile123Thr",
"transcript": "ENST00000903382.1",
"protein_id": "ENSP00000573441.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 720,
"cds_start": 368,
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"cdna_start": 762,
"cdna_end": null,
"cdna_length": 4008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903382.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.368T>C",
"hgvs_p": "p.Ile123Thr",
"transcript": "ENST00000903383.1",
"protein_id": "ENSP00000573442.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 720,
"cds_start": 368,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 3310,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903383.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.368T>C",
"hgvs_p": "p.Ile123Thr",
"transcript": "ENST00000903384.1",
"protein_id": "ENSP00000573443.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 720,
"cds_start": 368,
"cds_end": null,
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"cdna_start": 2910,
"cdna_end": null,
"cdna_length": 5267,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903384.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.368T>C",
"hgvs_p": "p.Ile123Thr",
"transcript": "ENST00000955376.1",
"protein_id": "ENSP00000625435.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 720,
"cds_start": 368,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 4037,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955376.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.368T>C",
"hgvs_p": "p.Ile123Thr",
"transcript": "ENST00000955377.1",
"protein_id": "ENSP00000625436.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 720,
"cds_start": 368,
"cds_end": null,
"cds_length": 2163,
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{
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],
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Pathogenic",
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"acmg_by_gene": [
{
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AR",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}