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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: 3-51989026-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=51989026&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 51989026,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000636358.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.1178G>A",
"hgvs_p": "p.Arg393His",
"transcript": "NM_000666.3",
"protein_id": "NP_000657.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 408,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 1251,
"cdna_end": null,
"cdna_length": 1422,
"mane_select": "ENST00000636358.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.1178G>A",
"hgvs_p": "p.Arg393His",
"transcript": "ENST00000636358.2",
"protein_id": "ENSP00000490149.1",
"transcript_support_level": 1,
"aa_start": 393,
"aa_end": null,
"aa_length": 408,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 1251,
"cdna_end": null,
"cdna_length": 1422,
"mane_select": "NM_000666.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "c.1481G>A",
"hgvs_p": "p.Arg494His",
"transcript": "ENST00000463937.1",
"protein_id": "ENSP00000420487.1",
"transcript_support_level": 5,
"aa_start": 494,
"aa_end": null,
"aa_length": 509,
"cds_start": 1481,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1557,
"cdna_end": null,
"cdna_length": 1705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.1178G>A",
"hgvs_p": "p.Arg393His",
"transcript": "ENST00000404366.7",
"protein_id": "ENSP00000384296.2",
"transcript_support_level": 1,
"aa_start": 393,
"aa_end": null,
"aa_length": 408,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 1473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "c.1745G>A",
"hgvs_p": "p.Arg582His",
"transcript": "ENST00000637978.1",
"protein_id": "ENSP00000490744.1",
"transcript_support_level": 5,
"aa_start": 582,
"aa_end": null,
"aa_length": 584,
"cds_start": 1745,
"cds_end": null,
"cds_length": 1756,
"cdna_start": 1747,
"cdna_end": null,
"cdna_length": 1758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "c.1448G>A",
"hgvs_p": "p.Arg483His",
"transcript": "NM_001316331.2",
"protein_id": "NP_001303260.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 498,
"cds_start": 1448,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1665,
"cdna_end": null,
"cdna_length": 1836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.1178G>A",
"hgvs_p": "p.Arg393His",
"transcript": "NM_001198895.2",
"protein_id": "NP_001185824.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 408,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 1417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.1073G>A",
"hgvs_p": "p.Arg358His",
"transcript": "NM_001198898.2",
"protein_id": "NP_001185827.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 373,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 1146,
"cdna_end": null,
"cdna_length": 1317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.1073G>A",
"hgvs_p": "p.Arg358His",
"transcript": "ENST00000476351.5",
"protein_id": "ENSP00000417056.1",
"transcript_support_level": 3,
"aa_start": 358,
"aa_end": null,
"aa_length": 373,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 1409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.1073G>A",
"hgvs_p": "p.Arg358His",
"transcript": "ENST00000635797.1",
"protein_id": "ENSP00000490007.1",
"transcript_support_level": 5,
"aa_start": 358,
"aa_end": null,
"aa_length": 373,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 1146,
"cdna_end": null,
"cdna_length": 1294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.983G>A",
"hgvs_p": "p.Arg328His",
"transcript": "NM_001198897.2",
"protein_id": "NP_001185826.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 343,
"cds_start": 983,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 1227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.983G>A",
"hgvs_p": "p.Arg328His",
"transcript": "ENST00000476854.5",
"protein_id": "ENSP00000419262.1",
"transcript_support_level": 3,
"aa_start": 328,
"aa_end": null,
"aa_length": 343,
"cds_start": 983,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 1148,
"cdna_end": null,
"cdna_length": 1319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.962G>A",
"hgvs_p": "p.Arg321His",
"transcript": "NM_001198896.2",
"protein_id": "NP_001185825.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 336,
"cds_start": 962,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 1206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.962G>A",
"hgvs_p": "p.Arg321His",
"transcript": "ENST00000494103.5",
"protein_id": "ENSP00000417618.1",
"transcript_support_level": 3,
"aa_start": 321,
"aa_end": null,
"aa_length": 336,
"cds_start": 962,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1127,
"cdna_end": null,
"cdna_length": 1298,
"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": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "n.*1089G>A",
"hgvs_p": null,
"transcript": "ENST00000463721.5",
"protein_id": "ENSP00000417688.1",
"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": 1836,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "n.641G>A",
"hgvs_p": null,
"transcript": "ENST00000490244.2",
"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": 812,
"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": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "n.*448G>A",
"hgvs_p": null,
"transcript": "ENST00000491318.5",
"protein_id": "ENSP00000418683.1",
"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": 1390,
"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": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "n.*2446G>A",
"hgvs_p": null,
"transcript": "ENST00000635937.1",
"protein_id": "ENSP00000489887.1",
"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": 3078,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "n.*1411G>A",
"hgvs_p": null,
"transcript": "ENST00000635941.1",
"protein_id": "ENSP00000490309.1",
"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": 1691,
"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": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "n.*1749G>A",
"hgvs_p": null,
"transcript": "ENST00000635946.1",
"protein_id": "ENSP00000490284.1",
"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": 2459,
"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": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "n.*1450G>A",
"hgvs_p": null,
"transcript": "ENST00000635951.1",
"protein_id": "ENSP00000490649.1",
"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": 2168,
"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": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "n.*1515G>A",
"hgvs_p": null,
"transcript": "ENST00000636089.1",
"protein_id": "ENSP00000490657.1",
"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": 2230,
"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": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "n.*2414G>A",
"hgvs_p": null,
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{
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:2",
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"pathogenicity_classification_combined": "Benign/Likely benign",
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}
],
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}