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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: 1-75761159-TG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=75761159&ref=TG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "ACADM",
"hgnc_id": 89,
"hgvs_c": "c.1083delG",
"hgvs_p": "p.Met361fs",
"inheritance_mode": "AR",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_001286043.2",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 8,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Medium-chain acyl-coenzyme A dehydrogenase deficiency,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5 LP:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 421,
"aa_ref": "M",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2261,
"cdna_start": 1063,
"cds_end": null,
"cds_length": 1266,
"cds_start": 984,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_000016.6",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "c.984delG",
"hgvs_p": "p.Met328fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000370841.9",
"protein_coding": true,
"protein_id": "NP_000007.1",
"strand": true,
"transcript": "NM_000016.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 421,
"aa_ref": "M",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2261,
"cdna_start": 1063,
"cds_end": null,
"cds_length": 1266,
"cds_start": 984,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000370841.9",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "c.984delG",
"hgvs_p": "p.Met328fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000016.6",
"protein_coding": true,
"protein_id": "ENSP00000359878.5",
"strand": true,
"transcript": "ENST00000370841.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 454,
"aa_ref": "M",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2172,
"cdna_start": 1162,
"cds_end": null,
"cds_length": 1365,
"cds_start": 1083,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000370834.9",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "c.1083delG",
"hgvs_p": "p.Met361fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359871.5",
"strand": true,
"transcript": "ENST00000370834.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 425,
"aa_ref": "M",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1332,
"cdna_start": 1004,
"cds_end": null,
"cds_length": 1278,
"cds_start": 996,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000420607.6",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "c.996delG",
"hgvs_p": "p.Met332fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409612.2",
"strand": true,
"transcript": "ENST00000420607.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 389,
"aa_ref": "M",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2360,
"cdna_start": 1245,
"cds_end": null,
"cds_length": 1170,
"cds_start": 888,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000541113.6",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "c.888delG",
"hgvs_p": "p.Met296fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442324.2",
"strand": true,
"transcript": "ENST00000541113.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1451,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000526196.5",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "n.*752delG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000431953.1",
"strand": true,
"transcript": "ENST00000526196.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1149,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000534334.5",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "n.*725delG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435584.1",
"strand": true,
"transcript": "ENST00000534334.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1451,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000526196.5",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "n.*752delG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000431953.1",
"strand": true,
"transcript": "ENST00000526196.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1149,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000534334.5",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "n.*725delG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435584.1",
"strand": true,
"transcript": "ENST00000534334.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 454,
"aa_ref": "M",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2360,
"cdna_start": 1162,
"cds_end": null,
"cds_length": 1365,
"cds_start": 1083,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001286043.2",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "c.1083delG",
"hgvs_p": "p.Met361fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001272972.1",
"strand": true,
"transcript": "NM_001286043.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 453,
"aa_ref": "M",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2300,
"cdna_start": 1122,
"cds_end": null,
"cds_length": 1362,
"cds_start": 1080,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000879989.1",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "c.1080delG",
"hgvs_p": "p.Met360fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550048.1",
"strand": true,
"transcript": "ENST00000879989.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 437,
"aa_ref": "M",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2138,
"cdna_start": 1122,
"cds_end": null,
"cds_length": 1314,
"cds_start": 1032,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000879990.1",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "c.1032delG",
"hgvs_p": "p.Met344fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550049.1",
"strand": true,
"transcript": "ENST00000879990.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 425,
"aa_ref": "M",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2273,
"cdna_start": 1075,
"cds_end": null,
"cds_length": 1278,
"cds_start": 996,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001127328.3",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "c.996delG",
"hgvs_p": "p.Met332fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001120800.1",
"strand": true,
"transcript": "NM_001127328.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 421,
"aa_ref": "M",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2374,
"cdna_start": 1182,
"cds_end": null,
"cds_length": 1266,
"cds_start": 984,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000927351.1",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "c.984delG",
"hgvs_p": "p.Met328fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597410.1",
"strand": true,
"transcript": "ENST00000927351.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 420,
"aa_ref": "M",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2060,
"cdna_start": 1043,
"cds_end": null,
"cds_length": 1263,
"cds_start": 981,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000879991.1",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "c.981delG",
"hgvs_p": "p.Met327fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550050.1",
"strand": true,
"transcript": "ENST00000879991.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 420,
"aa_ref": "M",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2164,
"cdna_start": 1147,
"cds_end": null,
"cds_length": 1263,
"cds_start": 981,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000956292.1",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "c.981delG",
"hgvs_p": "p.Met327fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626351.1",
"strand": true,
"transcript": "ENST00000956292.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 419,
"aa_ref": "M",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2283,
"cdna_start": 1005,
"cds_end": null,
"cds_length": 1260,
"cds_start": 978,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000879987.1",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "c.978delG",
"hgvs_p": "p.Met326fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550046.1",
"strand": true,
"transcript": "ENST00000879987.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 394,
"aa_ref": "M",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1950,
"cdna_start": 933,
"cds_end": null,
"cds_length": 1185,
"cds_start": 903,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000879995.1",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "c.903delG",
"hgvs_p": "p.Met301fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550054.1",
"strand": true,
"transcript": "ENST00000879995.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 385,
"aa_ref": "M",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2173,
"cdna_start": 975,
"cds_end": null,
"cds_length": 1158,
"cds_start": 876,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001286042.2",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "c.876delG",
"hgvs_p": "p.Met292fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001272971.1",
"strand": true,
"transcript": "NM_001286042.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 374,
"aa_ref": "M",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2315,
"cdna_start": 1200,
"cds_end": null,
"cds_length": 1125,
"cds_start": 843,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000680805.1",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "c.843delG",
"hgvs_p": "p.Met281fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505447.1",
"strand": true,
"transcript": "ENST00000680805.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 342,
"aa_ref": "M",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1795,
"cdna_start": 780,
"cds_end": null,
"cds_length": 1029,
"cds_start": 747,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000879994.1",
"gene_hgnc_id": 89,
"gene_symbol": "ACADM",
"hgvs_c": "c.747delG",
"hgvs_p": "p.Met249fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550053.1",
"strand": true,
"transcript": "ENST00000879994.1",
"transcript_support_level": null
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