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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: 16-20548404-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=20548404&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 20548404,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_182617.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2B",
"gene_hgnc_id": 30931,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Asp322His",
"transcript": "NM_001105069.2",
"protein_id": "NP_001098539.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 577,
"cds_start": 964,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000329697.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105069.2"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2B",
"gene_hgnc_id": 30931,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Asp322His",
"transcript": "ENST00000329697.10",
"protein_id": "ENSP00000327453.6",
"transcript_support_level": 1,
"aa_start": 322,
"aa_end": null,
"aa_length": 577,
"cds_start": 964,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001105069.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000329697.10"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2B",
"gene_hgnc_id": 30931,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Asp322His",
"transcript": "ENST00000414188.6",
"protein_id": "ENSP00000390378.3",
"transcript_support_level": 1,
"aa_start": 322,
"aa_end": null,
"aa_length": 577,
"cds_start": 964,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414188.6"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2B",
"gene_hgnc_id": 30931,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Asp322His",
"transcript": "ENST00000567001.5",
"protein_id": "ENSP00000456378.1",
"transcript_support_level": 1,
"aa_start": 322,
"aa_end": null,
"aa_length": 577,
"cds_start": 964,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567001.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2B",
"gene_hgnc_id": 30931,
"hgvs_c": "n.1139G>C",
"hgvs_p": null,
"transcript": "ENST00000569364.5",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000569364.5"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2B",
"gene_hgnc_id": 30931,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Asp322His",
"transcript": "ENST00000879901.1",
"protein_id": "ENSP00000549960.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 581,
"cds_start": 964,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879901.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2B",
"gene_hgnc_id": 30931,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Asp322His",
"transcript": "NM_182617.4",
"protein_id": "NP_872423.3",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 577,
"cds_start": 964,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182617.4"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2B",
"gene_hgnc_id": 30931,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Asp322His",
"transcript": "ENST00000565232.5",
"protein_id": "ENSP00000454995.1",
"transcript_support_level": 2,
"aa_start": 322,
"aa_end": null,
"aa_length": 577,
"cds_start": 964,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565232.5"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2B",
"gene_hgnc_id": 30931,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Asp322His",
"transcript": "ENST00000879903.1",
"protein_id": "ENSP00000549962.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 577,
"cds_start": 964,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879903.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2B",
"gene_hgnc_id": 30931,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Asp322His",
"transcript": "ENST00000879906.1",
"protein_id": "ENSP00000549965.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 577,
"cds_start": 964,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879906.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2B",
"gene_hgnc_id": 30931,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Asp322His",
"transcript": "ENST00000879907.1",
"protein_id": "ENSP00000549966.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 577,
"cds_start": 964,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879907.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2B",
"gene_hgnc_id": 30931,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Asp322His",
"transcript": "ENST00000879908.1",
"protein_id": "ENSP00000549967.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 577,
"cds_start": 964,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879908.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2B",
"gene_hgnc_id": 30931,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Asp322His",
"transcript": "ENST00000879897.1",
"protein_id": "ENSP00000549956.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 576,
"cds_start": 964,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879897.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2B",
"gene_hgnc_id": 30931,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Asp322His",
"transcript": "ENST00000879898.1",
"protein_id": "ENSP00000549957.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 575,
"cds_start": 964,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879898.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2B",
"gene_hgnc_id": 30931,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Asp322His",
"transcript": "ENST00000879895.1",
"protein_id": "ENSP00000549954.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 561,
"cds_start": 964,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879895.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2B",
"gene_hgnc_id": 30931,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Asp322His",
"transcript": "ENST00000879894.1",
"protein_id": "ENSP00000549953.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 551,
"cds_start": 964,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879894.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2B",
"gene_hgnc_id": 30931,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Asp322His",
"transcript": "ENST00000879900.1",
"protein_id": "ENSP00000549959.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 551,
"cds_start": 964,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879900.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2B",
"gene_hgnc_id": 30931,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Asp322His",
"transcript": "ENST00000879902.1",
"protein_id": "ENSP00000549961.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 543,
"cds_start": 964,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879902.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2B",
"gene_hgnc_id": 30931,
"hgvs_c": "c.820G>C",
"hgvs_p": "p.Asp274His",
"transcript": "ENST00000879904.1",
"protein_id": "ENSP00000549963.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 529,
"cds_start": 820,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879904.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2B",
"gene_hgnc_id": 30931,
"hgvs_c": "c.727G>C",
"hgvs_p": "p.Asp243His",
"transcript": "NM_001410902.1",
"protein_id": "NP_001397831.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 498,
"cds_start": 727,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410902.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2B",
"gene_hgnc_id": 30931,
"hgvs_c": "c.727G>C",
"hgvs_p": "p.Asp243His",
"transcript": "ENST00000565322.5",
"protein_id": "ENSP00000457377.1",
"transcript_support_level": 2,
"aa_start": 243,
"aa_end": null,
"aa_length": 498,
"cds_start": 727,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565322.5"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2B",
"gene_hgnc_id": 30931,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Asp322His",
"transcript": "ENST00000879896.1",
"protein_id": "ENSP00000549955.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 467,
"cds_start": 964,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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"verdict": "Uncertain_significance",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}