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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: X-130005259-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=130005259&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 130005259,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001184772.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.28G>C",
"hgvs_p": "p.Gly10Arg",
"transcript": "NM_001379451.1",
"protein_id": "NP_001366380.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 1785,
"cds_start": 28,
"cds_end": null,
"cds_length": 5358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000540052.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379451.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.28G>C",
"hgvs_p": "p.Gly10Arg",
"transcript": "ENST00000540052.6",
"protein_id": "ENSP00000437775.2",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 1785,
"cds_start": 28,
"cds_end": null,
"cds_length": 5358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001379451.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540052.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.28G>C",
"hgvs_p": "p.Gly10Arg",
"transcript": "NM_001184772.3",
"protein_id": "NP_001171701.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 1785,
"cds_start": 28,
"cds_end": null,
"cds_length": 5358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184772.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.28G>C",
"hgvs_p": "p.Gly10Arg",
"transcript": "NM_001379450.1",
"protein_id": "NP_001366379.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 1785,
"cds_start": 28,
"cds_end": null,
"cds_length": 5358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379450.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.28G>C",
"hgvs_p": "p.Gly10Arg",
"transcript": "NM_001441326.1",
"protein_id": "NP_001428255.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 1785,
"cds_start": 28,
"cds_end": null,
"cds_length": 5358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441326.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.28G>C",
"hgvs_p": "p.Gly10Arg",
"transcript": "NM_001441327.1",
"protein_id": "NP_001428256.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 1785,
"cds_start": 28,
"cds_end": null,
"cds_length": 5358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441327.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.28G>C",
"hgvs_p": "p.Gly10Arg",
"transcript": "NM_001441328.1",
"protein_id": "NP_001428257.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 1785,
"cds_start": 28,
"cds_end": null,
"cds_length": 5358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441328.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.28G>C",
"hgvs_p": "p.Gly10Arg",
"transcript": "NM_021946.5",
"protein_id": "NP_068765.3",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 1711,
"cds_start": 28,
"cds_end": null,
"cds_length": 5136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021946.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.28G>C",
"hgvs_p": "p.Gly10Arg",
"transcript": "ENST00000218147.11",
"protein_id": "ENSP00000218147.7",
"transcript_support_level": 5,
"aa_start": 10,
"aa_end": null,
"aa_length": 1711,
"cds_start": 28,
"cds_end": null,
"cds_length": 5136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000218147.11"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.28G>C",
"hgvs_p": "p.Gly10Arg",
"transcript": "NM_001441329.1",
"protein_id": "NP_001428258.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 1655,
"cds_start": 28,
"cds_end": null,
"cds_length": 4968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441329.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.28G>C",
"hgvs_p": "p.Gly10Arg",
"transcript": "NM_001441330.1",
"protein_id": "NP_001428259.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 1655,
"cds_start": 28,
"cds_end": null,
"cds_length": 4968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441330.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.28G>C",
"hgvs_p": "p.Gly10Arg",
"transcript": "NM_001441331.1",
"protein_id": "NP_001428260.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 1655,
"cds_start": 28,
"cds_end": null,
"cds_length": 4968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441331.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.28G>C",
"hgvs_p": "p.Gly10Arg",
"transcript": "NM_001441332.1",
"protein_id": "NP_001428261.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 1655,
"cds_start": 28,
"cds_end": null,
"cds_length": 4968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441332.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.28G>C",
"hgvs_p": "p.Gly10Arg",
"transcript": "ENST00000607874.1",
"protein_id": "ENSP00000484149.1",
"transcript_support_level": 3,
"aa_start": 10,
"aa_end": null,
"aa_length": 27,
"cds_start": 28,
"cds_end": null,
"cds_length": 86,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000607874.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.28G>C",
"hgvs_p": "p.Gly10Arg",
"transcript": "XM_005262453.5",
"protein_id": "XP_005262510.2",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 1785,
"cds_start": 28,
"cds_end": null,
"cds_length": 5358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262453.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.28G>C",
"hgvs_p": "p.Gly10Arg",
"transcript": "XM_006724777.4",
"protein_id": "XP_006724840.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 1785,
"cds_start": 28,
"cds_end": null,
"cds_length": 5358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724777.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.28G>C",
"hgvs_p": "p.Gly10Arg",
"transcript": "XM_017029722.2",
"protein_id": "XP_016885211.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 1785,
"cds_start": 28,
"cds_end": null,
"cds_length": 5358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029722.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.28G>C",
"hgvs_p": "p.Gly10Arg",
"transcript": "XM_047442339.1",
"protein_id": "XP_047298295.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 1785,
"cds_start": 28,
"cds_end": null,
"cds_length": 5358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442339.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.28G>C",
"hgvs_p": "p.Gly10Arg",
"transcript": "XM_047442340.1",
"protein_id": "XP_047298296.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 1785,
"cds_start": 28,
"cds_end": null,
"cds_length": 5358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442340.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.28G>C",
"hgvs_p": "p.Gly10Arg",
"transcript": "XM_047442341.1",
"protein_id": "XP_047298297.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 1785,
"cds_start": 28,
"cds_end": null,
"cds_length": 5358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442341.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.28G>C",
"hgvs_p": "p.Gly10Arg",
"transcript": "XM_047442344.1",
"protein_id": "XP_047298300.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 1655,
"cds_start": 28,
"cds_end": null,
"cds_length": 4968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442344.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.-423G>C",
"hgvs_p": null,
"transcript": "XM_047442347.1",
"protein_id": "XP_047298303.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1557,
"cds_start": null,
"cds_end": null,
"cds_length": 4674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442347.1"
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{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "BCORL1",
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"hgvs_c": "n.28G>C",
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"transcript": "ENST00000488135.6",
"protein_id": "ENSP00000476643.1",
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"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000488135.6"
}
],
"gene_symbol": "BCORL1",
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"dbsnp": "rs1325772447",
"frequency_reference_population": 9.107717e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 9.10772e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23121872544288635,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.184,
"revel_prediction": "Benign",
"alphamissense_score": 0.8299,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.831,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001184772.3",
"gene_symbol": "BCORL1",
"hgnc_id": 25657,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.28G>C",
"hgvs_p": "p.Gly10Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}