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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: 11-67611025-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=67611025&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NDUFV1",
"hgnc_id": 7716,
"hgvs_c": "c.731A>G",
"hgvs_p": "p.Asn244Ser",
"inheritance_mode": "AR",
"pathogenic_score": 8,
"score": 8,
"transcript": "NM_007103.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong",
"acmg_score": 8,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.8134,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.21,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9854331016540527,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 464,
"aa_ref": "N",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1560,
"cdna_start": 800,
"cds_end": null,
"cds_length": 1395,
"cds_start": 731,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_007103.4",
"gene_hgnc_id": 7716,
"gene_symbol": "NDUFV1",
"hgvs_c": "c.731A>G",
"hgvs_p": "p.Asn244Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000322776.11",
"protein_coding": true,
"protein_id": "NP_009034.2",
"strand": true,
"transcript": "NM_007103.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 464,
"aa_ref": "N",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1560,
"cdna_start": 800,
"cds_end": null,
"cds_length": 1395,
"cds_start": 731,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000322776.11",
"gene_hgnc_id": 7716,
"gene_symbol": "NDUFV1",
"hgvs_c": "c.731A>G",
"hgvs_p": "p.Asn244Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007103.4",
"protein_coding": true,
"protein_id": "ENSP00000322450.6",
"strand": true,
"transcript": "ENST00000322776.11",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 455,
"aa_ref": "N",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1503,
"cdna_start": 769,
"cds_end": null,
"cds_length": 1368,
"cds_start": 704,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000529927.5",
"gene_hgnc_id": 7716,
"gene_symbol": "NDUFV1",
"hgvs_c": "c.704A>G",
"hgvs_p": "p.Asn235Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436766.1",
"strand": true,
"transcript": "ENST00000529927.5",
"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": 774,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000526169.1",
"gene_hgnc_id": 7716,
"gene_symbol": "NDUFV1",
"hgvs_c": "n.473A>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": "ENST00000526169.1",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 469,
"aa_ref": "N",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1557,
"cdna_start": 802,
"cds_end": null,
"cds_length": 1410,
"cds_start": 731,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000926240.1",
"gene_hgnc_id": 7716,
"gene_symbol": "NDUFV1",
"hgvs_c": "c.731A>G",
"hgvs_p": "p.Asn244Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596299.1",
"strand": true,
"transcript": "ENST00000926240.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 464,
"aa_ref": "N",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2528,
"cdna_start": 1768,
"cds_end": null,
"cds_length": 1395,
"cds_start": 731,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000647561.1",
"gene_hgnc_id": 7716,
"gene_symbol": "NDUFV1",
"hgvs_c": "c.731A>G",
"hgvs_p": "p.Asn244Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497587.1",
"strand": true,
"transcript": "ENST00000647561.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 463,
"aa_ref": "N",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1584,
"cdna_start": 837,
"cds_end": null,
"cds_length": 1392,
"cds_start": 728,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000926237.1",
"gene_hgnc_id": 7716,
"gene_symbol": "NDUFV1",
"hgvs_c": "c.728A>G",
"hgvs_p": "p.Asn243Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596296.1",
"strand": true,
"transcript": "ENST00000926237.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 462,
"aa_ref": "N",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1578,
"cdna_start": 838,
"cds_end": null,
"cds_length": 1389,
"cds_start": 731,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000926238.1",
"gene_hgnc_id": 7716,
"gene_symbol": "NDUFV1",
"hgvs_c": "c.731A>G",
"hgvs_p": "p.Asn244Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596297.1",
"strand": true,
"transcript": "ENST00000926238.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 457,
"aa_ref": "N",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1512,
"cdna_start": 771,
"cds_end": null,
"cds_length": 1374,
"cds_start": 710,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000415352.6",
"gene_hgnc_id": 7716,
"gene_symbol": "NDUFV1",
"hgvs_c": "c.710A>G",
"hgvs_p": "p.Asn237Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395368.2",
"strand": true,
"transcript": "ENST00000415352.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 455,
"aa_ref": "N",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1533,
"cdna_start": 773,
"cds_end": null,
"cds_length": 1368,
"cds_start": 704,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001166102.2",
"gene_hgnc_id": 7716,
"gene_symbol": "NDUFV1",
"hgvs_c": "c.704A>G",
"hgvs_p": "p.Asn235Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001159574.1",
"strand": true,
"transcript": "NM_001166102.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 437,
"aa_ref": "N",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1479,
"cdna_start": 739,
"cds_end": null,
"cds_length": 1314,
"cds_start": 650,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000879258.1",
"gene_hgnc_id": 7716,
"gene_symbol": "NDUFV1",
"hgvs_c": "c.650A>G",
"hgvs_p": "p.Asn217Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549317.1",
"strand": true,
"transcript": "ENST00000879258.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 422,
"aa_ref": "N",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1415,
"cdna_start": 801,
"cds_end": null,
"cds_length": 1269,
"cds_start": 731,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000964390.1",
"gene_hgnc_id": 7716,
"gene_symbol": "NDUFV1",
"hgvs_c": "c.731A>G",
"hgvs_p": "p.Asn244Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634449.1",
"strand": true,
"transcript": "ENST00000964390.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 410,
"aa_ref": "N",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1371,
"cdna_start": 630,
"cds_end": null,
"cds_length": 1233,
"cds_start": 569,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000879260.1",
"gene_hgnc_id": 7716,
"gene_symbol": "NDUFV1",
"hgvs_c": "c.569A>G",
"hgvs_p": "p.Asn190Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549319.1",
"strand": true,
"transcript": "ENST00000879260.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 408,
"aa_ref": "N",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1365,
"cdna_start": 792,
"cds_end": null,
"cds_length": 1227,
"cds_start": 731,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000926241.1",
"gene_hgnc_id": 7716,
"gene_symbol": "NDUFV1",
"hgvs_c": "c.731A>G",
"hgvs_p": "p.Asn244Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596300.1",
"strand": true,
"transcript": "ENST00000926241.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 408,
"aa_ref": "N",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1351,
"cdna_start": 610,
"cds_end": null,
"cds_length": 1227,
"cds_start": 563,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000926242.1",
"gene_hgnc_id": 7716,
"gene_symbol": "NDUFV1",
"hgvs_c": "c.563A>G",
"hgvs_p": "p.Asn188Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596301.1",
"strand": true,
"transcript": "ENST00000926242.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 397,
"aa_ref": "N",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1383,
"cdna_start": 843,
"cds_end": null,
"cds_length": 1194,
"cds_start": 731,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000879257.1",
"gene_hgnc_id": 7716,
"gene_symbol": "NDUFV1",
"hgvs_c": "c.731A>G",
"hgvs_p": "p.Asn244Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549316.1",
"strand": true,
"transcript": "ENST00000879257.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 381,
"aa_ref": "N",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1270,
"cdna_start": 778,
"cds_end": null,
"cds_length": 1146,
"cds_start": 731,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000879261.1",
"gene_hgnc_id": 7716,
"gene_symbol": "NDUFV1",
"hgvs_c": "c.731A>G",
"hgvs_p": "p.Asn244Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549320.1",
"strand": true,
"transcript": "ENST00000879261.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 363,
"aa_ref": "N",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1493,
"cdna_start": 753,
"cds_end": null,
"cds_length": 1092,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000532303.5",
"gene_hgnc_id": 7716,
"gene_symbol": "NDUFV1",
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Asn143Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432015.1",
"strand": true,
"transcript": "ENST00000532303.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 450,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1497,
"cdna_start": null,
"cds_end": null,
"cds_length": 1353,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879259.1",
"gene_hgnc_id": 7716,
"gene_symbol": "NDUFV1",
"hgvs_c": "c.701-12A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549318.1",
"strand": true,
"transcript": "ENST00000879259.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 439,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1472,
"cdna_start": null,
"cds_end": null,
"cds_length": 1320,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000964389.1",
"gene_hgnc_id": 7716,
"gene_symbol": "NDUFV1",
"hgvs_c": "c.701-45A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634448.1",
"strand": true,
"transcript": "ENST00000964389.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 432,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1419,
"cdna_start": null,
"cds_end": null,
"cds_length": 1299,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926243.1",
"gene_hgnc_id": 7716,
"gene_symbol": "NDUFV1",
"hgvs_c": "c.680-45A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
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