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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: 11-47580595-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=47580595&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NDUFS3",
"hgnc_id": 7710,
"hgvs_c": "c.204C>G",
"hgvs_p": "p.Ile68Met",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_004551.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.1215,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.26,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Leigh syndrome,Mitochondrial complex I deficiency",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.27596360445022583,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 264,
"aa_ref": "I",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 894,
"cdna_start": 222,
"cds_end": null,
"cds_length": 795,
"cds_start": 204,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_004551.3",
"gene_hgnc_id": 7710,
"gene_symbol": "NDUFS3",
"hgvs_c": "c.204C>G",
"hgvs_p": "p.Ile68Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000263774.9",
"protein_coding": true,
"protein_id": "NP_004542.1",
"strand": true,
"transcript": "NM_004551.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 264,
"aa_ref": "I",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 894,
"cdna_start": 222,
"cds_end": null,
"cds_length": 795,
"cds_start": 204,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000263774.9",
"gene_hgnc_id": 7710,
"gene_symbol": "NDUFS3",
"hgvs_c": "c.204C>G",
"hgvs_p": "p.Ile68Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004551.3",
"protein_coding": true,
"protein_id": "ENSP00000263774.4",
"strand": true,
"transcript": "ENST00000263774.9",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 262,
"aa_ref": "I",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 912,
"cdna_start": 241,
"cds_end": null,
"cds_length": 789,
"cds_start": 198,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000892082.1",
"gene_hgnc_id": 7710,
"gene_symbol": "NDUFS3",
"hgvs_c": "c.198C>G",
"hgvs_p": "p.Ile66Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562141.1",
"strand": true,
"transcript": "ENST00000892082.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 259,
"aa_ref": "I",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 878,
"cdna_start": 222,
"cds_end": null,
"cds_length": 780,
"cds_start": 204,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000892084.1",
"gene_hgnc_id": 7710,
"gene_symbol": "NDUFS3",
"hgvs_c": "c.204C>G",
"hgvs_p": "p.Ile68Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562143.1",
"strand": true,
"transcript": "ENST00000892084.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 247,
"aa_ref": "I",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 844,
"cdna_start": 222,
"cds_end": null,
"cds_length": 744,
"cds_start": 204,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000925068.1",
"gene_hgnc_id": 7710,
"gene_symbol": "NDUFS3",
"hgvs_c": "c.204C>G",
"hgvs_p": "p.Ile68Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595127.1",
"strand": true,
"transcript": "ENST00000925068.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 234,
"aa_ref": "I",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 828,
"cdna_start": 246,
"cds_end": null,
"cds_length": 705,
"cds_start": 204,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000961331.1",
"gene_hgnc_id": 7710,
"gene_symbol": "NDUFS3",
"hgvs_c": "c.204C>G",
"hgvs_p": "p.Ile68Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631390.1",
"strand": true,
"transcript": "ENST00000961331.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 224,
"aa_ref": "I",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 830,
"cdna_start": 278,
"cds_end": null,
"cds_length": 675,
"cds_start": 204,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000892081.1",
"gene_hgnc_id": 7710,
"gene_symbol": "NDUFS3",
"hgvs_c": "c.204C>G",
"hgvs_p": "p.Ile68Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562140.1",
"strand": true,
"transcript": "ENST00000892081.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 222,
"aa_ref": "I",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 771,
"cdna_start": 222,
"cds_end": null,
"cds_length": 669,
"cds_start": 204,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000925067.1",
"gene_hgnc_id": 7710,
"gene_symbol": "NDUFS3",
"hgvs_c": "c.204C>G",
"hgvs_p": "p.Ile68Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595126.1",
"strand": true,
"transcript": "ENST00000925067.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 222,
"aa_ref": "I",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 769,
"cdna_start": 222,
"cds_end": null,
"cds_length": 669,
"cds_start": 204,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000925069.1",
"gene_hgnc_id": 7710,
"gene_symbol": "NDUFS3",
"hgvs_c": "c.204C>G",
"hgvs_p": "p.Ile68Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595128.1",
"strand": true,
"transcript": "ENST00000925069.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 214,
"aa_ref": "I",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 754,
"cdna_start": 229,
"cds_end": null,
"cds_length": 645,
"cds_start": 204,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000925066.1",
"gene_hgnc_id": 7710,
"gene_symbol": "NDUFS3",
"hgvs_c": "c.204C>G",
"hgvs_p": "p.Ile68Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595125.1",
"strand": true,
"transcript": "ENST00000925066.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 182,
"aa_ref": "I",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 648,
"cdna_start": 222,
"cds_end": null,
"cds_length": 549,
"cds_start": 204,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000892083.1",
"gene_hgnc_id": 7710,
"gene_symbol": "NDUFS3",
"hgvs_c": "c.204C>G",
"hgvs_p": "p.Ile68Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562142.1",
"strand": true,
"transcript": "ENST00000892083.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 161,
"aa_ref": "I",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 561,
"cdna_start": 256,
"cds_end": null,
"cds_length": 486,
"cds_start": 204,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000528192.5",
"gene_hgnc_id": 7710,
"gene_symbol": "NDUFS3",
"hgvs_c": "c.204C>G",
"hgvs_p": "p.Ile68Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432099.1",
"strand": true,
"transcript": "ENST00000528192.5",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 121,
"aa_ref": "I",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 583,
"cdna_start": 224,
"cds_end": null,
"cds_length": 366,
"cds_start": 204,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000534208.5",
"gene_hgnc_id": 7710,
"gene_symbol": "NDUFS3",
"hgvs_c": "c.204C>G",
"hgvs_p": "p.Ile68Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433405.1",
"strand": true,
"transcript": "ENST00000534208.5",
"transcript_support_level": 4
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 76,
"aa_ref": "I",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 253,
"cdna_start": 158,
"cds_end": null,
"cds_length": 233,
"cds_start": 138,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000530295.5",
"gene_hgnc_id": 7710,
"gene_symbol": "NDUFS3",
"hgvs_c": "c.138C>G",
"hgvs_p": "p.Ile46Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431588.1",
"strand": true,
"transcript": "ENST00000530295.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 209,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 716,
"cdna_start": null,
"cds_end": null,
"cds_length": 630,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925070.1",
"gene_hgnc_id": 7710,
"gene_symbol": "NDUFS3",
"hgvs_c": "c.138-311C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595129.1",
"strand": true,
"transcript": "ENST00000925070.1",
"transcript_support_level": null
},
{
"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": 733,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000524568.1",
"gene_hgnc_id": 7710,
"gene_symbol": "NDUFS3",
"hgvs_c": "n.307C>G",
"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": "ENST00000524568.1",
"transcript_support_level": 2
},
{
"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": 2049,
"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": "ENST00000531351.2",
"gene_hgnc_id": 7710,
"gene_symbol": "NDUFS3",
"hgvs_c": "n.161C>G",
"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": "ENST00000531351.2",
"transcript_support_level": 5
},
{
"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": 567,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000533105.1",
"gene_hgnc_id": 7710,
"gene_symbol": "NDUFS3",
"hgvs_c": "n.321C>G",
"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": "ENST00000533105.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1769,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000533507.5",
"gene_hgnc_id": 7710,
"gene_symbol": "NDUFS3",
"hgvs_c": "n.886C>G",
"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": "ENST00000533507.5",
"transcript_support_level": 2
},
{
"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": 1263,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000534716.2",
"gene_hgnc_id": 7710,
"gene_symbol": "NDUFS3",
"hgvs_c": "n.222C>G",
"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": "ENST00000534716.2",
"transcript_support_level": 2
},
{
"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": 3333,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000677462.1",
"gene_hgnc_id": 7710,
"gene_symbol": "NDUFS3",
"hgvs_c": "n.1363C>G",
"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": "ENST00000677462.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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],
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}
]
}