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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: 1-75761364-C-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=75761364&ref=C&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 75761364,
"ref": "C",
"alt": "CT",
"effect": "frameshift_variant",
"transcript": "NM_001286043.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "L?",
"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.1189dupT",
"hgvs_p": "p.Tyr397fs",
"transcript": "NM_000016.6",
"protein_id": "NP_000007.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 421,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 1269,
"cdna_end": null,
"cdna_length": 2261,
"mane_select": "ENST00000370841.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000016.6"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"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.1189dupT",
"hgvs_p": "p.Tyr397fs",
"transcript": "ENST00000370841.9",
"protein_id": "ENSP00000359878.5",
"transcript_support_level": 1,
"aa_start": 397,
"aa_end": null,
"aa_length": 421,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 1269,
"cdna_end": null,
"cdna_length": 2261,
"mane_select": "NM_000016.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370841.9"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"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.1288dupT",
"hgvs_p": "p.Tyr430fs",
"transcript": "ENST00000370834.9",
"protein_id": "ENSP00000359871.5",
"transcript_support_level": 1,
"aa_start": 430,
"aa_end": null,
"aa_length": 454,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1368,
"cdna_end": null,
"cdna_length": 2172,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370834.9"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"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.1201dupT",
"hgvs_p": "p.Tyr401fs",
"transcript": "ENST00000420607.6",
"protein_id": "ENSP00000409612.2",
"transcript_support_level": 1,
"aa_start": 401,
"aa_end": null,
"aa_length": 425,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 1332,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420607.6"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"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.1093dupT",
"hgvs_p": "p.Tyr365fs",
"transcript": "ENST00000541113.6",
"protein_id": "ENSP00000442324.2",
"transcript_support_level": 1,
"aa_start": 365,
"aa_end": null,
"aa_length": 389,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 2360,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541113.6"
},
{
"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.*957dupT",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1451,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000526196.5"
},
{
"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.*957dupT",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1451,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000526196.5"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"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.1288dupT",
"hgvs_p": "p.Tyr430fs",
"transcript": "NM_001286043.2",
"protein_id": "NP_001272972.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 454,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1368,
"cdna_end": null,
"cdna_length": 2360,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286043.2"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"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.1285dupT",
"hgvs_p": "p.Tyr429fs",
"transcript": "ENST00000879989.1",
"protein_id": "ENSP00000550048.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 453,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 2300,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879989.1"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"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.1237dupT",
"hgvs_p": "p.Tyr413fs",
"transcript": "ENST00000879990.1",
"protein_id": "ENSP00000550049.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 437,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 2138,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879990.1"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"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.1201dupT",
"hgvs_p": "p.Tyr401fs",
"transcript": "NM_001127328.3",
"protein_id": "NP_001120800.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 425,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1281,
"cdna_end": null,
"cdna_length": 2273,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127328.3"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"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.1189dupT",
"hgvs_p": "p.Tyr397fs",
"transcript": "ENST00000927351.1",
"protein_id": "ENSP00000597410.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 421,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 1388,
"cdna_end": null,
"cdna_length": 2374,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927351.1"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"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.1186dupT",
"hgvs_p": "p.Tyr396fs",
"transcript": "ENST00000879991.1",
"protein_id": "ENSP00000550050.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 420,
"cds_start": 1187,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 2060,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879991.1"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"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.1186dupT",
"hgvs_p": "p.Tyr396fs",
"transcript": "ENST00000956292.1",
"protein_id": "ENSP00000626351.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 420,
"cds_start": 1187,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1353,
"cdna_end": null,
"cdna_length": 2164,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956292.1"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"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.1183dupT",
"hgvs_p": "p.Tyr395fs",
"transcript": "ENST00000879987.1",
"protein_id": "ENSP00000550046.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 419,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 2283,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879987.1"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"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.1108dupT",
"hgvs_p": "p.Tyr370fs",
"transcript": "ENST00000879995.1",
"protein_id": "ENSP00000550054.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 394,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 1950,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879995.1"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"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.1081dupT",
"hgvs_p": "p.Tyr361fs",
"transcript": "NM_001286042.2",
"protein_id": "NP_001272971.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 385,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 1181,
"cdna_end": null,
"cdna_length": 2173,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286042.2"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"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.1060dupT",
"hgvs_p": "p.Tyr354fs",
"transcript": "ENST00000879992.1",
"protein_id": "ENSP00000550051.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 378,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 1930,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879992.1"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"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.1048dupT",
"hgvs_p": "p.Tyr350fs",
"transcript": "ENST00000680805.1",
"protein_id": "ENSP00000505447.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 374,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1406,
"cdna_end": null,
"cdna_length": 2315,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680805.1"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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": "c.952dupT",
"hgvs_p": "p.Tyr318fs",
"transcript": "ENST00000879994.1",
"protein_id": "ENSP00000550053.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 342,
"cds_start": 953,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 986,
"cdna_end": null,
"cdna_length": 1795,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879994.1"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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": "c.949dupT",
"hgvs_p": "p.Tyr317fs",
"transcript": "ENST00000879997.1",
"protein_id": "ENSP00000550056.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 341,
"cds_start": 950,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 1785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879997.1"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"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.931dupT",
"hgvs_p": "p.Tyr311fs",
"transcript": "ENST00000681790.1",
"protein_id": "ENSP00000505130.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 335,
"cds_start": 932,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 1370,
"cdna_end": null,
"cdna_length": 2403,
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
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"phenotype_combined": "not provided|Medium-chain acyl-coenzyme A dehydrogenase deficiency",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
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}
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}