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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: 18-36156575-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=36156575&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 36156575,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000358232.11",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1385G>A",
"hgvs_p": "p.Arg462Gln",
"transcript": "NM_018255.4",
"protein_id": "NP_060725.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 826,
"cds_start": 1385,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 1420,
"cdna_end": null,
"cdna_length": 8432,
"mane_select": "ENST00000358232.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1385G>A",
"hgvs_p": "p.Arg462Gln",
"transcript": "ENST00000358232.11",
"protein_id": "ENSP00000350967.6",
"transcript_support_level": 1,
"aa_start": 462,
"aa_end": null,
"aa_length": 826,
"cds_start": 1385,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 1420,
"cdna_end": null,
"cdna_length": 8432,
"mane_select": "NM_018255.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1175G>A",
"hgvs_p": "p.Arg392Gln",
"transcript": "ENST00000423854.6",
"protein_id": "ENSP00000391202.2",
"transcript_support_level": 1,
"aa_start": 392,
"aa_end": null,
"aa_length": 756,
"cds_start": 1175,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1175G>A",
"hgvs_p": "p.Arg392Gln",
"transcript": "ENST00000542824.5",
"protein_id": "ENSP00000443800.1",
"transcript_support_level": 1,
"aa_start": 392,
"aa_end": null,
"aa_length": 756,
"cds_start": 1175,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1185,
"cdna_end": null,
"cdna_length": 2288,
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "n.1385G>A",
"hgvs_p": null,
"transcript": "ENST00000539560.5",
"protein_id": "ENSP00000443555.1",
"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": 2542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1580G>A",
"hgvs_p": "p.Arg527Gln",
"transcript": "NM_001242875.3",
"protein_id": "NP_001229804.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 891,
"cds_start": 1580,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 1615,
"cdna_end": null,
"cdna_length": 8627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1580G>A",
"hgvs_p": "p.Arg527Gln",
"transcript": "ENST00000442325.6",
"protein_id": "ENSP00000414851.2",
"transcript_support_level": 2,
"aa_start": 527,
"aa_end": null,
"aa_length": 891,
"cds_start": 1580,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 1616,
"cdna_end": null,
"cdna_length": 2722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1502G>A",
"hgvs_p": "p.Arg501Gln",
"transcript": "NM_001324466.2",
"protein_id": "NP_001311395.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 865,
"cds_start": 1502,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 1537,
"cdna_end": null,
"cdna_length": 8549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1370G>A",
"hgvs_p": "p.Arg457Gln",
"transcript": "NM_001242876.3",
"protein_id": "NP_001229805.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 821,
"cds_start": 1370,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 1405,
"cdna_end": null,
"cdna_length": 8417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1370G>A",
"hgvs_p": "p.Arg457Gln",
"transcript": "ENST00000350494.10",
"protein_id": "ENSP00000316051.6",
"transcript_support_level": 2,
"aa_start": 457,
"aa_end": null,
"aa_length": 821,
"cds_start": 1370,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 1384,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1307G>A",
"hgvs_p": "p.Arg436Gln",
"transcript": "NM_001242877.3",
"protein_id": "NP_001229806.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 800,
"cds_start": 1307,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 8354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1307G>A",
"hgvs_p": "p.Arg436Gln",
"transcript": "ENST00000351393.10",
"protein_id": "ENSP00000257191.7",
"transcript_support_level": 2,
"aa_start": 436,
"aa_end": null,
"aa_length": 800,
"cds_start": 1307,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 1350,
"cdna_end": null,
"cdna_length": 2453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1253G>A",
"hgvs_p": "p.Arg418Gln",
"transcript": "NM_001324465.2",
"protein_id": "NP_001311394.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 782,
"cds_start": 1253,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 8300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1235G>A",
"hgvs_p": "p.Arg412Gln",
"transcript": "NM_001324467.2",
"protein_id": "NP_001311396.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 776,
"cds_start": 1235,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 1270,
"cdna_end": null,
"cdna_length": 8282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1175G>A",
"hgvs_p": "p.Arg392Gln",
"transcript": "NM_001242878.3",
"protein_id": "NP_001229807.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 756,
"cds_start": 1175,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 8222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1175G>A",
"hgvs_p": "p.Arg392Gln",
"transcript": "NM_001242879.3",
"protein_id": "NP_001229808.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 756,
"cds_start": 1175,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 8222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.938G>A",
"hgvs_p": "p.Arg313Gln",
"transcript": "NM_001324468.2",
"protein_id": "NP_001311397.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 677,
"cds_start": 938,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 8353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1580G>A",
"hgvs_p": "p.Arg527Gln",
"transcript": "XM_047437610.1",
"protein_id": "XP_047293566.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 777,
"cds_start": 1580,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 1615,
"cdna_end": null,
"cdna_length": 2420,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "n.179G>A",
"hgvs_p": null,
"transcript": "ENST00000542050.5",
"protein_id": null,
"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": 690,
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "n.1420G>A",
"hgvs_p": null,
"transcript": "NR_040110.3",
"protein_id": null,
"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": 8380,
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "n.1353G>A",
"hgvs_p": null,
"transcript": "NR_136897.2",
"protein_id": null,
"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": 8313,
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "n.1420G>A",
"hgvs_p": null,
"transcript": "NR_136898.2",
"protein_id": null,
"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": 8377,
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "n.1420G>A",
"hgvs_p": null,
"transcript": "NR_137173.2",
"protein_id": null,
"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": 8298,
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "n.289-4357G>A",
"hgvs_p": null,
"transcript": "ENST00000540799.1",
"protein_id": "ENSP00000468091.1",
"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": 381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"dbsnp": "rs371310428",
"frequency_reference_population": 0.0000074348795,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000547263,
"gnomad_genomes_af": 0.0000262822,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9201257228851318,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.923,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9859,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.48,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.883,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PM5",
"PP3_Moderate",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000358232.11",
"gene_symbol": "ELP2",
"hgnc_id": 18248,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1385G>A",
"hgvs_p": "p.Arg462Gln"
}
],
"clinvar_disease": " autosomal recessive 58, profound,Intellectual disability,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:2 LP:1 US:1",
"phenotype_combined": "Intellectual disability, autosomal recessive 58|Intellectual disability, profound|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}