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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-130015231-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=130015231&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 130015231,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000540052.6",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.2459A>G",
"hgvs_p": "p.Asn820Ser",
"transcript": "NM_001379451.1",
"protein_id": "NP_001366380.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 1785,
"cds_start": 2459,
"cds_end": null,
"cds_length": 5358,
"cdna_start": 2631,
"cdna_end": null,
"cdna_length": 7465,
"mane_select": "ENST00000540052.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.2459A>G",
"hgvs_p": "p.Asn820Ser",
"transcript": "ENST00000540052.6",
"protein_id": "ENSP00000437775.2",
"transcript_support_level": 1,
"aa_start": 820,
"aa_end": null,
"aa_length": 1785,
"cds_start": 2459,
"cds_end": null,
"cds_length": 5358,
"cdna_start": 2631,
"cdna_end": null,
"cdna_length": 7465,
"mane_select": "NM_001379451.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.764A>G",
"hgvs_p": "p.Asn255Ser",
"transcript": "ENST00000441294.1",
"protein_id": "ENSP00000416520.1",
"transcript_support_level": 1,
"aa_start": 255,
"aa_end": null,
"aa_length": 739,
"cds_start": 764,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 2221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.2459A>G",
"hgvs_p": "p.Asn820Ser",
"transcript": "NM_001184772.3",
"protein_id": "NP_001171701.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 1785,
"cds_start": 2459,
"cds_end": null,
"cds_length": 5358,
"cdna_start": 2938,
"cdna_end": null,
"cdna_length": 7772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.2459A>G",
"hgvs_p": "p.Asn820Ser",
"transcript": "NM_001379450.1",
"protein_id": "NP_001366379.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 1785,
"cds_start": 2459,
"cds_end": null,
"cds_length": 5358,
"cdna_start": 2759,
"cdna_end": null,
"cdna_length": 7593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.2459A>G",
"hgvs_p": "p.Asn820Ser",
"transcript": "NM_001441326.1",
"protein_id": "NP_001428255.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 1785,
"cds_start": 2459,
"cds_end": null,
"cds_length": 5358,
"cdna_start": 2723,
"cdna_end": null,
"cdna_length": 7557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.2459A>G",
"hgvs_p": "p.Asn820Ser",
"transcript": "NM_001441327.1",
"protein_id": "NP_001428256.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 1785,
"cds_start": 2459,
"cds_end": null,
"cds_length": 5358,
"cdna_start": 2969,
"cdna_end": null,
"cdna_length": 7803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.2459A>G",
"hgvs_p": "p.Asn820Ser",
"transcript": "NM_001441328.1",
"protein_id": "NP_001428257.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 1785,
"cds_start": 2459,
"cds_end": null,
"cds_length": 5358,
"cdna_start": 2547,
"cdna_end": null,
"cdna_length": 7381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.2459A>G",
"hgvs_p": "p.Asn820Ser",
"transcript": "NM_021946.5",
"protein_id": "NP_068765.3",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 1711,
"cds_start": 2459,
"cds_end": null,
"cds_length": 5136,
"cdna_start": 2631,
"cdna_end": null,
"cdna_length": 7243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.2459A>G",
"hgvs_p": "p.Asn820Ser",
"transcript": "ENST00000218147.11",
"protein_id": "ENSP00000218147.7",
"transcript_support_level": 5,
"aa_start": 820,
"aa_end": null,
"aa_length": 1711,
"cds_start": 2459,
"cds_end": null,
"cds_length": 5136,
"cdna_start": 2656,
"cdna_end": null,
"cdna_length": 6860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.2459A>G",
"hgvs_p": "p.Asn820Ser",
"transcript": "NM_001441329.1",
"protein_id": "NP_001428258.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 1655,
"cds_start": 2459,
"cds_end": null,
"cds_length": 4968,
"cdna_start": 2938,
"cdna_end": null,
"cdna_length": 7382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.2459A>G",
"hgvs_p": "p.Asn820Ser",
"transcript": "NM_001441330.1",
"protein_id": "NP_001428259.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 1655,
"cds_start": 2459,
"cds_end": null,
"cds_length": 4968,
"cdna_start": 2723,
"cdna_end": null,
"cdna_length": 7167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.2459A>G",
"hgvs_p": "p.Asn820Ser",
"transcript": "NM_001441331.1",
"protein_id": "NP_001428260.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 1655,
"cds_start": 2459,
"cds_end": null,
"cds_length": 4968,
"cdna_start": 2754,
"cdna_end": null,
"cdna_length": 7198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.2459A>G",
"hgvs_p": "p.Asn820Ser",
"transcript": "NM_001441332.1",
"protein_id": "NP_001428261.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 1655,
"cds_start": 2459,
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"cdna_start": 2631,
"cdna_end": null,
"cdna_length": 7075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.2459A>G",
"hgvs_p": "p.Asn820Ser",
"transcript": "XM_005262453.5",
"protein_id": "XP_005262510.2",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 1785,
"cds_start": 2459,
"cds_end": null,
"cds_length": 5358,
"cdna_start": 2659,
"cdna_end": null,
"cdna_length": 7493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.2459A>G",
"hgvs_p": "p.Asn820Ser",
"transcript": "XM_006724777.4",
"protein_id": "XP_006724840.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 1785,
"cds_start": 2459,
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"cdna_start": 2579,
"cdna_end": null,
"cdna_length": 7413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.2459A>G",
"hgvs_p": "p.Asn820Ser",
"transcript": "XM_017029722.2",
"protein_id": "XP_016885211.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 1785,
"cds_start": 2459,
"cds_end": null,
"cds_length": 5358,
"cdna_start": 2997,
"cdna_end": null,
"cdna_length": 7831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.2459A>G",
"hgvs_p": "p.Asn820Ser",
"transcript": "XM_047442339.1",
"protein_id": "XP_047298295.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 1785,
"cds_start": 2459,
"cds_end": null,
"cds_length": 5358,
"cdna_start": 2692,
"cdna_end": null,
"cdna_length": 7526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.2459A>G",
"hgvs_p": "p.Asn820Ser",
"transcript": "XM_047442340.1",
"protein_id": "XP_047298296.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 1785,
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"cdna_start": 3097,
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"cdna_length": 7931,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.2459A>G",
"hgvs_p": "p.Asn820Ser",
"transcript": "XM_047442341.1",
"protein_id": "XP_047298297.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 1785,
"cds_start": 2459,
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"cdna_start": 3165,
"cdna_end": null,
"cdna_length": 7999,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.2165A>G",
"hgvs_p": "p.Asn722Ser",
"transcript": "XM_047442346.1",
"protein_id": "XP_047298302.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 1687,
"cds_start": 2165,
"cds_end": null,
"cds_length": 5064,
"cdna_start": 2474,
"cdna_end": null,
"cdna_length": 7308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.2459A>G",
"hgvs_p": "p.Asn820Ser",
"transcript": "XM_047442344.1",
"protein_id": "XP_047298300.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 1655,
"cds_start": 2459,
"cds_end": null,
"cds_length": 4968,
"cdna_start": 2579,
"cdna_end": null,
"cdna_length": 7023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"hgvs_c": "c.2165A>G",
"hgvs_p": "p.Asn722Ser",
"transcript": "XM_047442347.1",
"protein_id": "XP_047298303.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 1557,
"cds_start": 2165,
"cds_end": null,
"cds_length": 4674,
"cdna_start": 2659,
"cdna_end": null,
"cdna_length": 7103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BCORL1",
"gene_hgnc_id": 25657,
"dbsnp": "rs398123004",
"frequency_reference_population": 0.000019822064,
"hom_count_reference_population": 8,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000127503,
"gnomad_genomes_af": 0.0000886879,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2352319359779358,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.107,
"revel_prediction": "Benign",
"alphamissense_score": 0.1135,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.445,
"phylop100way_prediction": "Uncertain_significance",
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2_Supporting",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000540052.6",
"gene_symbol": "BCORL1",
"hgnc_id": 25657,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.2459A>G",
"hgvs_p": "p.Asn820Ser"
}
],
"clinvar_disease": "Shukla-Vernon syndrome,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Shukla-Vernon syndrome|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}