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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: 1-75761164-GTTGAACTAGCTAGAATGAGTTA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=75761164&ref=GTTGAACTAGCTAGAATGAGTTA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 75761164,
"ref": "GTTGAACTAGCTAGAATGAGTTA",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000370841.9",
"consequences": [
{
"aa_ref": "VELARMSY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.989_1010delTTGAACTAGCTAGAATGAGTTA",
"hgvs_p": "p.Val330fs",
"transcript": "NM_000016.6",
"protein_id": "NP_000007.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 421,
"cds_start": 989,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 2261,
"mane_select": "ENST00000370841.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VELARMSY",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.989_1010delTTGAACTAGCTAGAATGAGTTA",
"hgvs_p": "p.Val330fs",
"transcript": "ENST00000370841.9",
"protein_id": "ENSP00000359878.5",
"transcript_support_level": 1,
"aa_start": 330,
"aa_end": null,
"aa_length": 421,
"cds_start": 989,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 2261,
"mane_select": "NM_000016.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VELARMSY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.1088_1109delTTGAACTAGCTAGAATGAGTTA",
"hgvs_p": "p.Val363fs",
"transcript": "ENST00000370834.9",
"protein_id": "ENSP00000359871.5",
"transcript_support_level": 1,
"aa_start": 363,
"aa_end": null,
"aa_length": 454,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 2172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VELARMSY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.1001_1022delTTGAACTAGCTAGAATGAGTTA",
"hgvs_p": "p.Val334fs",
"transcript": "ENST00000420607.6",
"protein_id": "ENSP00000409612.2",
"transcript_support_level": 1,
"aa_start": 334,
"aa_end": null,
"aa_length": 425,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 1332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VELARMSY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.893_914delTTGAACTAGCTAGAATGAGTTA",
"hgvs_p": "p.Val298fs",
"transcript": "ENST00000541113.6",
"protein_id": "ENSP00000442324.2",
"transcript_support_level": 1,
"aa_start": 298,
"aa_end": null,
"aa_length": 389,
"cds_start": 893,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1250,
"cdna_end": null,
"cdna_length": 2360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "n.*757_*778delTTGAACTAGCTAGAATGAGTTA",
"hgvs_p": null,
"transcript": "ENST00000526196.5",
"protein_id": "ENSP00000431953.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "n.*730_*751delTTGAACTAGCTAGAATGAGTTA",
"hgvs_p": null,
"transcript": "ENST00000534334.5",
"protein_id": "ENSP00000435584.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "n.*757_*778delTTGAACTAGCTAGAATGAGTTA",
"hgvs_p": null,
"transcript": "ENST00000526196.5",
"protein_id": "ENSP00000431953.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "n.*730_*751delTTGAACTAGCTAGAATGAGTTA",
"hgvs_p": null,
"transcript": "ENST00000534334.5",
"protein_id": "ENSP00000435584.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VELARMSY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.1088_1109delTTGAACTAGCTAGAATGAGTTA",
"hgvs_p": "p.Val363fs",
"transcript": "NM_001286043.2",
"protein_id": "NP_001272972.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 454,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 2360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VELARMSY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.1001_1022delTTGAACTAGCTAGAATGAGTTA",
"hgvs_p": "p.Val334fs",
"transcript": "NM_001127328.3",
"protein_id": "NP_001120800.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 425,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 2273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VELARMSY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.881_902delTTGAACTAGCTAGAATGAGTTA",
"hgvs_p": "p.Val294fs",
"transcript": "NM_001286042.2",
"protein_id": "NP_001272971.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 385,
"cds_start": 881,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 980,
"cdna_end": null,
"cdna_length": 2173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VELARMSY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.848_869delTTGAACTAGCTAGAATGAGTTA",
"hgvs_p": "p.Val283fs",
"transcript": "ENST00000680805.1",
"protein_id": "ENSP00000505447.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 374,
"cds_start": 848,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 2315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VELARMSY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.731_752delTTGAACTAGCTAGAATGAGTTA",
"hgvs_p": "p.Val244fs",
"transcript": "ENST00000681790.1",
"protein_id": "ENSP00000505130.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 335,
"cds_start": 731,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 1169,
"cdna_end": null,
"cdna_length": 2403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VELARMSY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.551_572delTTGAACTAGCTAGAATGAGTTA",
"hgvs_p": "p.Val184fs",
"transcript": "ENST00000679687.1",
"protein_id": "ENSP00000506598.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 275,
"cds_start": 551,
"cds_end": null,
"cds_length": 828,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 1688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VELARMSY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.422_443delTTGAACTAGCTAGAATGAGTTA",
"hgvs_p": "p.Val141fs",
"transcript": "NM_001286044.2",
"protein_id": "NP_001272973.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 232,
"cds_start": 422,
"cds_end": null,
"cds_length": 699,
"cdna_start": 798,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "n.3113_3134delTTGAACTAGCTAGAATGAGTTA",
"hgvs_p": null,
"transcript": "ENST00000473018.3",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "n.262_283delTTGAACTAGCTAGAATGAGTTA",
"hgvs_p": null,
"transcript": "ENST00000481374.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "n.*575_*596delTTGAACTAGCTAGAATGAGTTA",
"hgvs_p": null,
"transcript": "ENST00000525808.5",
"protein_id": "ENSP00000434823.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "n.*773_*794delTTGAACTAGCTAGAATGAGTTA",
"hgvs_p": null,
"transcript": "ENST00000526129.5",
"protein_id": "ENSP00000434092.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "n.898_919delTTGAACTAGCTAGAATGAGTTA",
"hgvs_p": null,
"transcript": "ENST00000529059.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "n.2000_2021delTTGAACTAGCTAGAATGAGTTA",
"hgvs_p": null,
"transcript": "ENST00000532207.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4318,
"mane_select": null,
"mane_plus": null,
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],
"inheritance_mode": "AR",
"hgvs_c": "c.989_1010delTTGAACTAGCTAGAATGAGTTA",
"hgvs_p": "p.Val330fs"
}
],
"clinvar_disease": "Medium-chain acyl-coenzyme A dehydrogenase deficiency",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Medium-chain acyl-coenzyme A dehydrogenase deficiency",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}