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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: 1-75733559-TTTAA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=75733559&ref=TTTAA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 75733559,
"ref": "TTTAA",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000370841.9",
"consequences": [
{
"aa_ref": "IS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.322_325delATTA",
"hgvs_p": "p.Ile108fs",
"transcript": "NM_000016.6",
"protein_id": "NP_000007.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 421,
"cds_start": 322,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 2261,
"mane_select": "ENST00000370841.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IS",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.322_325delATTA",
"hgvs_p": "p.Ile108fs",
"transcript": "ENST00000370841.9",
"protein_id": "ENSP00000359878.5",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 421,
"cds_start": 322,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 2261,
"mane_select": "NM_000016.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.421_424delATTA",
"hgvs_p": "p.Ile141fs",
"transcript": "ENST00000370834.9",
"protein_id": "ENSP00000359871.5",
"transcript_support_level": 1,
"aa_start": 141,
"aa_end": null,
"aa_length": 454,
"cds_start": 421,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 2172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.334_337delATTA",
"hgvs_p": "p.Ile112fs",
"transcript": "ENST00000420607.6",
"protein_id": "ENSP00000409612.2",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 425,
"cds_start": 334,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 1332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.322_325delATTA",
"hgvs_p": "p.Ile108fs",
"transcript": "ENST00000541113.6",
"protein_id": "ENSP00000442324.2",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 389,
"cds_start": 322,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 679,
"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": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "n.*90_*93delATTA",
"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": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "n.*90_*93delATTA",
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "n.286+641_286+644delATTA",
"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": "IS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.421_424delATTA",
"hgvs_p": "p.Ile141fs",
"transcript": "NM_001286043.2",
"protein_id": "NP_001272972.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 454,
"cds_start": 421,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 2360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.334_337delATTA",
"hgvs_p": "p.Ile112fs",
"transcript": "NM_001127328.3",
"protein_id": "NP_001120800.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 425,
"cds_start": 334,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 413,
"cdna_end": null,
"cdna_length": 2273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.214_217delATTA",
"hgvs_p": "p.Ile72fs",
"transcript": "NM_001286042.2",
"protein_id": "NP_001272971.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 385,
"cds_start": 214,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 313,
"cdna_end": null,
"cdna_length": 2173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.322_325delATTA",
"hgvs_p": "p.Ile108fs",
"transcript": "ENST00000680805.1",
"protein_id": "ENSP00000505447.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 374,
"cds_start": 322,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 2315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.322_325delATTA",
"hgvs_p": "p.Ile108fs",
"transcript": "ENST00000680964.1",
"protein_id": "ENSP00000505961.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 342,
"cds_start": 322,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 3789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.64_67delATTA",
"hgvs_p": "p.Ile22fs",
"transcript": "ENST00000681790.1",
"protein_id": "ENSP00000505130.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 335,
"cds_start": 64,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 502,
"cdna_end": null,
"cdna_length": 2403,
"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": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "n.1284_1287delATTA",
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "n.1284_1287delATTA",
"hgvs_p": null,
"transcript": "ENST00000525881.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1653,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "n.*106_*109delATTA",
"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": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "n.*86_*89delATTA",
"hgvs_p": null,
"transcript": "ENST00000532509.5",
"protein_id": "ENSP00000432522.1",
"transcript_support_level": 5,
"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": 825,
"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": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "n.1284_1287delATTA",
"hgvs_p": null,
"transcript": "ENST00000679509.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "n.*90_*93delATTA",
"hgvs_p": null,
"transcript": "ENST00000679530.1",
"protein_id": "ENSP00000506454.1",
"transcript_support_level": null,
"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": 2573,
"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": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "n.1284_1287delATTA",
"hgvs_p": null,
"transcript": "ENST00000679615.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 5322,
"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": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "n.*285_*288delATTA",
"hgvs_p": null,
"transcript": "ENST00000679709.1",
"protein_id": "ENSP00000506623.1",
"transcript_support_level": null,
"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": 2424,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "n.2449_2452delATTA",
"hgvs_p": null,
"transcript": "ENST00000680166.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "n.*221_*224delTTAA",
"hgvs_p": null,
"transcript": "ENST00000534146.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"dbsnp": "rs875989873",
"frequency_reference_population": 0.0000061567507,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000615675,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.598,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000370841.9",
"gene_symbol": "ACADM",
"hgnc_id": 89,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.322_325delATTA",
"hgvs_p": "p.Ile108fs"
}
],
"clinvar_disease": "Medium-chain acyl-coenzyme A dehydrogenase deficiency,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4",
"phenotype_combined": "Medium-chain acyl-coenzyme A dehydrogenase deficiency|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}