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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: 15-72021000-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=72021000&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MYO9A",
"hgnc_id": 7608,
"hgvs_c": "c.1016A>T",
"hgvs_p": "p.Tyr339Phe",
"inheritance_mode": "Unknown,AD,AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_006901.4",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000261632",
"hgnc_id": 58543,
"hgvs_c": "n.277-15515T>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "ENST00000568391.1",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MYO9A-AS1",
"hgnc_id": 58543,
"hgvs_c": "n.455-15515T>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "XR_001751796.2",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.4111,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.3,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9475641250610352,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2548,
"aa_ref": "Y",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12478,
"cdna_start": 1558,
"cds_end": null,
"cds_length": 7647,
"cds_start": 1016,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_006901.4",
"gene_hgnc_id": 7608,
"gene_symbol": "MYO9A",
"hgvs_c": "c.1016A>T",
"hgvs_p": "p.Tyr339Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000356056.10",
"protein_coding": true,
"protein_id": "NP_008832.2",
"strand": false,
"transcript": "NM_006901.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2548,
"aa_ref": "Y",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 12478,
"cdna_start": 1558,
"cds_end": null,
"cds_length": 7647,
"cds_start": 1016,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000356056.10",
"gene_hgnc_id": 7608,
"gene_symbol": "MYO9A",
"hgvs_c": "c.1016A>T",
"hgvs_p": "p.Tyr339Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006901.4",
"protein_coding": true,
"protein_id": "ENSP00000348349.5",
"strand": false,
"transcript": "ENST00000356056.10",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2396,
"aa_ref": "Y",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8111,
"cdna_start": 1176,
"cds_end": null,
"cds_length": 7191,
"cds_start": 1016,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000564571.5",
"gene_hgnc_id": 7608,
"gene_symbol": "MYO9A",
"hgvs_c": "c.1016A>T",
"hgvs_p": "p.Tyr339Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456192.1",
"strand": false,
"transcript": "ENST00000564571.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1301,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5111,
"cdna_start": null,
"cds_end": null,
"cds_length": 3906,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000566885.5",
"gene_hgnc_id": 7608,
"gene_symbol": "MYO9A",
"hgvs_c": "c.-143A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454446.1",
"strand": false,
"transcript": "ENST00000566885.5",
"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": 8864,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 25,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000563542.5",
"gene_hgnc_id": 7608,
"gene_symbol": "MYO9A",
"hgvs_c": "n.1089A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000563542.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4056,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000567560.5",
"gene_hgnc_id": 7608,
"gene_symbol": "MYO9A",
"hgvs_c": "n.1489A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000567560.5",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2592,
"aa_ref": "Y",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8576,
"cdna_start": 1263,
"cds_end": null,
"cds_length": 7779,
"cds_start": 1016,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000971716.1",
"gene_hgnc_id": 7608,
"gene_symbol": "MYO9A",
"hgvs_c": "c.1016A>T",
"hgvs_p": "p.Tyr339Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641775.1",
"strand": false,
"transcript": "ENST00000971716.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2561,
"aa_ref": "Y",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12037,
"cdna_start": 1087,
"cds_end": null,
"cds_length": 7686,
"cds_start": 1016,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000922047.1",
"gene_hgnc_id": 7608,
"gene_symbol": "MYO9A",
"hgvs_c": "c.1016A>T",
"hgvs_p": "p.Tyr339Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592106.1",
"strand": false,
"transcript": "ENST00000922047.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2529,
"aa_ref": "Y",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8348,
"cdna_start": 1192,
"cds_end": null,
"cds_length": 7590,
"cds_start": 1016,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000971717.1",
"gene_hgnc_id": 7608,
"gene_symbol": "MYO9A",
"hgvs_c": "c.1016A>T",
"hgvs_p": "p.Tyr339Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641776.1",
"strand": false,
"transcript": "ENST00000971717.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2638,
"aa_ref": "Y",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12748,
"cdna_start": 1558,
"cds_end": null,
"cds_length": 7917,
"cds_start": 1016,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011521613.4",
"gene_hgnc_id": 7608,
"gene_symbol": "MYO9A",
"hgvs_c": "c.1016A>T",
"hgvs_p": "p.Tyr339Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519915.1",
"strand": false,
"transcript": "XM_011521613.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2638,
"aa_ref": "Y",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12793,
"cdna_start": 1603,
"cds_end": null,
"cds_length": 7917,
"cds_start": 1016,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011521614.4",
"gene_hgnc_id": 7608,
"gene_symbol": "MYO9A",
"hgvs_c": "c.1016A>T",
"hgvs_p": "p.Tyr339Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519916.1",
"strand": false,
"transcript": "XM_011521614.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2638,
"aa_ref": "Y",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12551,
"cdna_start": 1361,
"cds_end": null,
"cds_length": 7917,
"cds_start": 1016,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011521615.4",
"gene_hgnc_id": 7608,
"gene_symbol": "MYO9A",
"hgvs_c": "c.1016A>T",
"hgvs_p": "p.Tyr339Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519917.1",
"strand": false,
"transcript": "XM_011521615.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2638,
"aa_ref": "Y",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12345,
"cdna_start": 1155,
"cds_end": null,
"cds_length": 7917,
"cds_start": 1016,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011521616.4",
"gene_hgnc_id": 7608,
"gene_symbol": "MYO9A",
"hgvs_c": "c.1016A>T",
"hgvs_p": "p.Tyr339Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519918.1",
"strand": false,
"transcript": "XM_011521616.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2637,
"aa_ref": "Y",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12745,
"cdna_start": 1558,
"cds_end": null,
"cds_length": 7914,
"cds_start": 1016,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011521617.4",
"gene_hgnc_id": 7608,
"gene_symbol": "MYO9A",
"hgvs_c": "c.1016A>T",
"hgvs_p": "p.Tyr339Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519919.1",
"strand": false,
"transcript": "XM_011521617.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2637,
"aa_ref": "Y",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12342,
"cdna_start": 1155,
"cds_end": null,
"cds_length": 7914,
"cds_start": 1016,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047432547.1",
"gene_hgnc_id": 7608,
"gene_symbol": "MYO9A",
"hgvs_c": "c.1016A>T",
"hgvs_p": "p.Tyr339Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288503.1",
"strand": false,
"transcript": "XM_047432547.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2637,
"aa_ref": "Y",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12790,
"cdna_start": 1603,
"cds_end": null,
"cds_length": 7914,
"cds_start": 1016,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047432548.1",
"gene_hgnc_id": 7608,
"gene_symbol": "MYO9A",
"hgvs_c": "c.1016A>T",
"hgvs_p": "p.Tyr339Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288504.1",
"strand": false,
"transcript": "XM_047432548.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 2620,
"aa_ref": "Y",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12694,
"cdna_start": 1558,
"cds_end": null,
"cds_length": 7863,
"cds_start": 1016,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011521618.4",
"gene_hgnc_id": 7608,
"gene_symbol": "MYO9A",
"hgvs_c": "c.1016A>T",
"hgvs_p": "p.Tyr339Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519920.1",
"strand": false,
"transcript": "XM_011521618.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2619,
"aa_ref": "Y",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12691,
"cdna_start": 1558,
"cds_end": null,
"cds_length": 7860,
"cds_start": 1016,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_006720539.4",
"gene_hgnc_id": 7608,
"gene_symbol": "MYO9A",
"hgvs_c": "c.1016A>T",
"hgvs_p": "p.Tyr339Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006720602.1",
"strand": false,
"transcript": "XM_006720539.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2619,
"aa_ref": "Y",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12691,
"cdna_start": 1558,
"cds_end": null,
"cds_length": 7860,
"cds_start": 1016,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011521619.4",
"gene_hgnc_id": 7608,
"gene_symbol": "MYO9A",
"hgvs_c": "c.1016A>T",
"hgvs_p": "p.Tyr339Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519921.1",
"strand": false,
"transcript": "XM_011521619.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2619,
"aa_ref": "Y",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12288,
"cdna_start": 1155,
"cds_end": null,
"cds_length": 7860,
"cds_start": 1016,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047432549.1",
"gene_hgnc_id": 7608,
"gene_symbol": "MYO9A",
"hgvs_c": "c.1016A>T",
"hgvs_p": "p.Tyr339Phe",
"intron_rank": null,
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}